Für Sie Recherchiert 4/23
Reclassifying hemophilia to include the definition of outcomes and phenotype as new targets
Thachil J., Connors J.M., Mahlangu J., Sholzberg M.
J. Thromb. Haemost. 2023 21:7 (1737-1740)
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Abstract
Hemophilia is classified into mild, moderate, and severe based on coagulation factor activity levels. Factor replacement and prophylaxis regimens in persons with hemophilia have helped to reduce bleeding and its related complications. With several newer treatments, some already approved and others soon to be, there may be a need to consider health-related quality of life in addition to bleed prevention as the goals of providing comprehensive care to persons with hemophilia. In this article, we discussed the reasons why such an approach may be relevant and call for the International Society of Thrombosis and Haemostasis to revisit the current classification of hemophilia.
Non-drug Index Terms
(Based on full text)
clinical feature, disease classification, disease severity, hemophilia, human, phenotype, prognosis, quality of life, review, risk factor
RNA sequencing suggests that non-coding RNAs play a role in the development of acquired haemophilia
Tigu A.B., Hotea I., Drula R., Zimta A.-A., Dirzu N., Santa M., Constantinescu C., Dima D., Bergthorsson J.T., Greiff V., Gulei D., Coriu D., Serban M., Mahlangu J., Tomuleasa C.
J. Cell. Mol. Med. 2023 27:13 (1790-1796)
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Abstract
Acquired haemophilia (AH) is a rare disorder characterized by bleeding in patients with no personal or family history of coagulation/clotting-related diseases. This disease occurs when the immune system, by mistake, generates autoantibodies that target FVIII, causing bleeding. Small RNAs from plasma collected from AH patients (n = 2), mild classical haemophilia (n = 3), severe classical haemophilia (n = 3) and healthy donors (n = 2), for sequencing by Illumina, NextSeq500. Based on bioinformatic analysis, AH patients were compared to all experimental groups and a significant number of altered transcripts were identified with one transcript being modified compared to all groups at fold change level. The Venn diagram shows that haemoglobin subunit alpha 1 was highlighted to be the common upregulated transcript in AH compared to classical haemophilia and healthy patients. Non-coding RNAs might play a role in AH pathogenesis; however, due to the rarity of HA, the current study needs to be translated on a larger number of AH samples and classical haemophilia samples to generate more solid data that can confirm our findings.
Drug Index Terms
(Based on full text)
blood clotting factor 8 (endogenous compound), glycated hemoglobin (endogenous compound), untranslated RNA (endogenous compound)
Non-drug Index Terms
(Based on full text)
3' untranslated region, article, bioinformatics, bleeding, blood collection tube, clinical article, controlled study, differential expression analysis, gene expression, hemophilia, hemophilia A, high throughput sequencer, human, immune system, retrospective study, RNA sequencing, thalassemia
Delgado-Flores C.J., García-Gomero D., Pinedo-Castillo L., Taype-Rondan A.
[In Process] Heal. Sci. Rep. 2023 6:7
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Abstract
Background and Aims: Hemophilia clinical practice guidelines (CPGs) play a vital role in guiding healthcare professionals' decisions. However, the quality and recommendations of CPGs for hemophilia may vary. This study aimed to assess the methodological quality of hemophilia CPGs published between 2017 and 2021 and compare their recommendations for prophylaxis using clotting factor concentrate. Methods: We conducted a comprehensive search for relevant CPGs in PubMed, TripDatabase, Grades of Recommendation, Assessment, Development, and Evaluation (GRADE) International Guidelines Database, Google Scholar, and Google. We used the AGREE-II instrument to assess the methodological quality of each CPG and compared their recommendations for prophylaxis. Results: Of the 11 CPGs that met the inclusion criteria, 5/11 were developed in upper-middle-income countries, and 6/11 used the GRADE methodology. The primary prophylaxis dose recommendations varied among the CPGs, with 4/11 recommending a low dose, 6/11 recommending an intermediate or high dose, and 1/11 not issuing a recommendation. However, only 2/11 CPGs provided justification for their recommendations on initiation and dose, and no economic evaluations were conducted to support these recommendations. Conclusion: The quality of hemophilia CPGs is not optimal, with inconsistent recommendations for prophylaxis and a lack of justification for these recommendations. To ensure evidence-based and trustworthy recommendations, there is a need for transparency and improvement in the decision-making process of hemophilia CPGs.
Drug Index Terms
blood clotting factor concentrate
Non-drug Index Terms
article, clinical practice, controlled study, decision making, drug megadose, economic evaluation, hemophilia, human, low drug dose, Medline, middle income country, practice guideline, prophylaxis, search engine, systematic review
Donati D., Spinnato P., Valdrè L., Piscitelli L., Farella G.M., Pagliarulo E., Benedetti M.G.
[In Process] J. Clin. Med. 2023 12:13
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Abstract
Background: Hemophilia is a inherited bleeding disorder that is characterized by intra-articular bleeding (hemarthrosis). The aim of the study was to evaluate the state of the satellite tendons of the target joints in the patient with hemophilic arthropathy and propose rehabilitation treatment with eccentric exercises. Methods: The tendons of the joints mainly affected by hemophilic arthropathy were evaluated by ultrasound. The ultrasound evaluation is associated with the use of evaluation clinical scales, such as the Hemophilia Joint Health Score (HJHS), the Functional Independence Score in Hemophilia (FISH), the Hemophilia Activity List (HAL), the DASH, the VISA-A, the VISA-P, and the VAS scale. Results: In 20 patients with hemophilic arthropathy, the thickness of the tendons that were examined was normal. In six subjects with severe joint damage, echostructural alterations were present, and signs of hyperemia and neo-vascularization were detected on color Doppler, as well as the presence of intratendinous calcifications. Conclusions: The tendons of the target joints in patients with hemophilic arthropathy are compromised by the indirect biomechanical damage caused by the joint disease, and rehabilitation treatment with eccentric exercises can be considered safe and effective in improving the tenso-elastic properties of the tendons.
Non-drug Index Terms
adult, arthropathy, article, calcification, clinical article, clinical assessment, clinical evaluation, color Doppler flowmetry, exercise, female, hemophilia, hemophilic arthropathy, human, hyperemia, joint destruction, male, rehabilitation, tendinitis, tendon, thickness, vascularization
How we manage cardiovascular disease in patients with hemophilia
Franchini M., Focosi D., Mannucci P.M.
[In Process] Haematologica 2023 108:7 (1748-1757)
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Abstract
With the striking advances in hemophilia care that have materialized particularly in the last two decades, an increasing number of persons with hemophilia (PWH) have achieved a quality of life and life expectancy very close to that of unaffected individuals. With aging, a growing number of PWH develop age-related co-morbidities, including cancer and cardiovascular disease. The latter (particularly coronary artery disease and atrial fibrillation) represent a new challenge for the hemophilia treatment centers because their management implies a delicate balance between the thrombotic risk and bleeding tendency, that is further enhanced by the concomitant use of antithrombotic agents. Because evidence from clinical trials is lacking, the management of PWH with cardiovascular diseases is mostly based on expert opinions, personal experiences, and the adaptation of the evidence stemming from studies on people without hemophilia. In this article, we focus on how to manage coronary artery disease and atrial fibrillation in patients with hemophilia.
Drug Index Terms
anticoagulant agent
Non-drug Index Terms
adult, aging, atrial fibrillation, bleeding tendency, cancer patient, cardiovascular disease, comorbidity, controlled study, coronary artery disease, hemophilia, human, life expectancy, malignant neoplasm, personal experience, quality of life, review, thrombosis
Acquired hemophilia A (AHA) due to anti-SARS-CoV-2 vaccination: A systematic review
Amisha F., Saluja P., Malik P., Van Rhee F.
eJHaem 2023 4:2 (532-543)
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Abstract
Vaccination against SARS-CoV2 has been the largest vaccination campaign over the past two decades. The aim of this study is to qualitatively assess the reported cases of acquired hemophilia A (AHA) that developed after COVID-19 vaccination to further elaborate on incidence, presentation, treatment, and outcomes.We queried Medline (PubMed), Google Scholar, and Embase databases to find reported cases of AHA after COVID-19 vaccines. We found 14 studies (19 cases) for this descriptive analysis. Most patients were elderly (mean age 73 years) and males (n = 12) with multiple comorbidities. All cases developed after mRNA vaccines - BNT162b2 Pfizer-BioNTech (n = 13) and mRNA-1273 Moderna (n = 6). All except one patient were treated, with the most common therapy being a combination of steroids, immunosuppression, and rFVIII (n = 13). Two patients died due to acute respiratory distress, and gall bladder rupture with persistent bleeding, respectively. While evaluating a patient with bleeding diathesis after COVID-19 vaccination, AHA should be kept in the differential diagnosis. Given the low incidence, we believe that the benefit of vaccination still outweighs the risk of disease acquisition.
Drug Index Terms
(Based on full text)
azathioprine (drug therapy), blood clotting factor 8, corticosteroid, cyclophosphamide (drug therapy), cyclosporine (drug therapy), elasomeran (adverse drug reaction, drug therapy), ibacovavec (adverse drug reaction, drug therapy), prednisone (drug therapy, oral drug administration), rituximab (drug therapy), SARS-CoV-2 vaccine (adverse drug reaction, drug therapy), steroid (drug therapy), tozinameran (adverse drug reaction, drug therapy), vaxzevria
Non-drug Index Terms
(Based on full text)
activated partial thromboplastin time, adult respiratory distress syndrome (complication), asthma, bladder rupture (complication), bleeding (complication), bleeding tendency (complication), chronic kidney failure, clinical evaluation, contusion, coronary artery disease, coronavirus disease 2019 (drug therapy), differential diagnosis, ecchymosis, glaucoma, hematothorax (complication), hematuria (complication), hemophilia A (drug therapy, side effect), human, hyperlipidemia, hypertension, immunosuppressive treatment, incidence, letter, melena (complication), non insulin dependent diabetes mellitus, outcome assessment, paroxysmal nocturnal hemoglobinuria, peripheral arterial disease, pleomorphic dermal sarcoma (complication), Preferred Reporting Items for Systematic Reviews and Meta-Analyses, prostate adenocarcinoma, prostate hypertrophy, qualitative analysis, quantitative analysis, remission, sarcoma (complication), sepsis (complication), Severe acute respiratory syndrome coronavirus 2, systematic review, thrombotic thrombocytopenic purpura, vaccination, von Willebrand disease (complication)
Teitel J.
J. Thromb. Haemost. 2023 21:5 (1104-1106)
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Drug Index Terms
(Based on full text)
von Willebrand factor
Non-drug Index Terms
(Based on full text)
angiodysplasia, angiogenesis, bleeding disorder, cancer diagnosis, colonoscopy, colorectal cancer, computer assisted tomography, controlled study, diagnostic test accuracy study, endoscopy, health care cost, hemophilia, hospitalization, human, life expectancy, note, predictive value, prevalence, questionnaire, risk factor, sigmoidoscopy, von Willebrand disease
Kelkar M., Kadanthode M., Mohanty S., Verma A.
J. Cranio-Maxillofac. Surg. 2023 51:5 (316-320)
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Abstract
Dental extraction in hemophiliacs can be complicated by perilous bleeding. Although developments in local hemostatics and factor replacement have made outpatient extraction feasible, there is no standard protocol for preventing hemorrhagic exigency. Low-level laser therapy (LLLT) has firmly established role in hemostasis due to its ability to seal vessels, but this function has not been conclusively established in hemophiliac patients. The objective of our study was to evaluate the effectiveness of LLLT as compared with the standard protocol alone in achieving post-extraction hemostasis. A prospective interventional cohort study was designed and consisted of 60 patients with hemophilia A or B, who reported to the Maulana Azad Institute of Dental Sciences, New Delhi between October 2021 and March 2022. These were divided equally into test and control groups, both following the standard protocol. In the test group, extraction sockets were exposed to LLLT. The study assessed time required, instance of rebleeding, and additional methods employed for hemostasis in each group. The results showed a 22.42% reduction in average time taken to achieve hemostasis in the test group as compared with the control group. The tranexamic acid pack was replaced in two cases in both groups after 60 min of procedure. Three cases in the control group required suturing, and one case required cauterization. Rebleeding occurred in four cases in the test group and in 13 cases among the controls. Postoperative factor was infused in three and 12 cases in the test and control groups, respectively. The authors believe that perioperative use of LLLT should be encouraged because it demonstrated a significantly reduced time for hemostasis among hemophilia patients.
Drug Index Terms
(Based on full text)
blood clotting factor 8 (endogenous compound), blood clotting factor 9 (endogenous compound), epinephrine (clinical trial), lidocaine (clinical trial), tramadol (clinical trial, drug therapy), tranexamic acid (clinical trial, drug therapy, intravenous drug administration)
Non-drug Index Terms
(Based on full text)
adjuvant therapy, adult, article, bleeding time, blood cell count, cauterization, clinical observation, cohort analysis, controlled study, dental laser (clinical trial), disease severity, hemophilia (drug therapy, therapy), hemophilia A (drug therapy, therapy), hemophilia B (drug therapy, therapy), human, inferior alveolar nerve, low level laser therapy, major clinical study, male, nerve block, partial thromboplastin time, Photon Plus, postoperative pain (drug therapy), postoperative period, preoperative treatment, prescription, prospective study, prothrombin time, randomized controlled trial, substitution therapy, surgical hemostasis, suture technique, therapy effect, tooth extraction
Mannan K.A., Kumar N., Ahluwalia J., Hans C., Kler A., Prakash G., Jain R.
Int. J. Lab. Hematol. 2023 45:2 (241-249)
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Abstract
Introduction: The clot waveform analysis (CWA) provide valuable information beyond clotting time. The present study was planned to assess whether the activated partial thromboplastin time (aPTT)-CWA can differentiate between hemophilia A (HA), hemophilia B (HB), or hemophilia A with inhibitors (HAWI). Methods: The aPTT-CWA was generated by an optical detection system (ACL-TOP™ 500 coagulation analyzer) and the other tests were performed as per instructions from the manufacturer in the kit. Results: A total of 75 samples (47-HA, 16-HAWI, and 12-HB) with prolonged aPTT were recruited. On analyzing the quantitative aPTT-CWA data of HA (non-inhibitors) and HB samples, the width of acceleration 1 [+] peak was the differentiating finding. Among the significant parameters, the second derivative [+] peak was lower in both mild and moderate HA, equating to HB. The time for the height of 1/2 fibrin formation and width of velocity was significantly higher in mild, moderate and severe HA. The study did not show any significant differentiating finding while comparing HAWI and hemophilia A non-inhibitors (HANI). In the subgroups of HAWI and HANI with aPTT <70 s and 70–100 s, the second derivative [+] peak (2A) was higher and the time for the height of 1/2 fibrin formation (1C) was lesser in HAWI. Conclusion: The aPTT-CWA parameters may be supportive for the differentiation of hemophilia including its severity and the existence of inhibitors.
Non-drug Index Terms
(Based on full text)
acceleration, ACL-TOP 500, activated partial thromboplastin time, analysis, article, clot waveform analysis, coagulation analyzer, controlled study, fibrin formation, height, hemophilia, hemophilia A, hemophilia B, human, quantitative analysis, receiver operating characteristic, sensitivity and specificity, velocity, waveform
The impact of ankle haemarthropathy in patients with moderate haemophilia
Wilkins R.A., Siddle H.J., Chapman G.J., Horn E., Walwyn R., Redmond A.C.
Haemophilia 2023 29:2 (600-607)
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Abstract
Introduction: Moderate haemophilia has traditionally been associated with less complications than severe haemophilia. Changes in treatment recommendations have highlighted the burden of moderate haemophilia with a subset of patients with a severe bleeding phenotype. The ankle joint is disproportionally affected by ankle haemarthropathy however the impact has not been evaluated in moderate haemophilia, nor the effect on health related quality of life (HRQoL) or foot and ankle outcomes. Aims: To establish the impact of ankle haemarthropathy in patients with moderate haemophilia. Methods: A multicentre questionnaire study recruited patients from 11 haemophilia centres in England, Scotland and Wales. The HAEMO-QoL-A and Manchester-Oxford foot and ankle questionnaire (MOXFQ) with total and domain scores measured impact. Measures of pain and ankle haemophilia joint health (HJHS) scores were also collected. Results: Twenty-nine participants were recruited. HAEMO-QoL A mean (SD) total scores of 10.8 (5.2) of 100 (best health) and foot and ankle specific MOXFQ total scores of 45.5 (24.7) above zero (best outcome) indicate poor HRQoL and foot and ankle outcomes. Average ankle pain over past 6 months of (0–10) 5.5 (SD2.5) was reported and median (IQR) ankle HJHS of 3.0 (1;12.5) to 4.5 (0;9.5) for the left and right ankles. Conclusion: HRQoL and foot and ankle specific outcomes are poor in patients with moderate haemophilia and ankle haemarthropathy, driven by chronic levels of ankle joint pain. Despite moderate haemophilia being considered less affected by haemarthrosis and haemarthropathy, patients with a bleeding or haemarthropathy phenotype are clinically similar to patients with severe haemophilia A.
Non-drug Index Terms
(Based on full text)
adult, ankle hemarthropathy, ankle hemarthrosis, ankle pain, arthropathy, article, bleeding, body mass, body weight, clinical article, cross-sectional study, England, female, hemarthrosis, hemophilia, hemophilia joint health score, hemophilia specific quality of life questionnaire for adult, human, male, Manchester-Oxford Foot Questionnaire, pain assessment, population research, quality of life, questionnaire, scoring system, Scotland, United Kingdom, Wales
Cotino C., Pérez-Alenda S., Cruz-Montecinos C., López-Bueno R., Núñez-Cortés R., Suso-Martí L., Mendez-Rebolledo G., Andersen L.L., Casaña J., Calatayud J.
[Article in Press] Haemophilia 2023 :
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Abstract
Background: People with haemophilia (PWH) tend to be less physically active than the general population, but there is a lack of research on the specific barriers and facilitators affecting their participation in physical activities. Objectives: This study aims to explore perceived barriers and facilitators to physical activity in severe PWH. Design: An explorative qualitative study based on focus groups. Methods: Four focus groups including 16 participants (severe haemophilia A patients) were conducted to examine the factors perceived as facilitators or barriers to haemophiliacs engaging in physical activity. One researcher conducted a thematic analysis of all data. Results: Three themes were identified: body function, personal factors, and environmental factors. Key facilitators identified were access to prophylaxis treatment to reduce the risk of bleeding(s), the enjoyability of physical activity, fitness and health motives, social interaction, support, and low cost. PWH faced additional barriers to being physically active including hurtful joints, mobility issues, haemophilic arthropathy, dislike or disinterest, lack of motivation, fear of injury, tiredness, lack of time, lack of guidance, negative social influence, restriction, and lack of coordination of prophylaxis treatment. Conclusion: This exploratory study demonstrated that participation in physical activity in PWH is influenced not only by their own abilities and attitudes, but also by external variables, including family, friends, healthcare professionals, structures, and communities. The results of this study may be used to assist caregivers and health professionals, inform programs, interventions, and policies to promote physical activity and health in severe PWH.
Non-drug Index Terms
adult, article, caregiver, clinical article, controlled study, coordination disorder, environmental factor, exercise, exploratory research, fatigue, fear, female, friend, hemophilia, hemophilia A, hemophilic arthropathy, human, injury, joint mobility, male, motivation, physical activity, prophylaxis, qualitative research, social interaction, thematic analysis
The impact of inhibitors on the quality of life in patients with hemophilia
Haghpanah S., Naderi M., Kamalian S., Tavoosi H., Parand S., Javanmardi N., Karimi M.
SAGE Open Med. 2023 11:
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Abstract
Objective: To investigate the association of health-related quality of life in hemophilia patients with inhibitor and clinical and demographic characteristics. Methods: In this multi-center cross-sectional study, 41 male patients with hemophilia A were investigated from May to October 2021. All patients were registered at the Hemophilia Clinic affiliated with Shiraz and Zahedan Universities of Medical Sciences in Iran. Health-related quality of life of the patients was evaluated by the Short Form-36 questionnaire. Results: The patients’ mean ± SD of age was 36.9 ± 13.2 (range: 18–76) years. Eleven patients (26.8%) were inhibitor positive. In univariate analysis, physical function, mental health dimension, and total Short Form-36 scores were significantly lower in the inhibitor-positive patients (p < 0.001, p = 0.045, and p = 0.035, respectively). Moreover, patients with severe disease showed significantly lower scores in physical function (p < 0.001), physical health dimension (p = 0.018), and total Short Form-36 (p = 0.031) than those with mild and moderate hemophilia. Also, blood-borne infections showed a significant association with lower score in physical health dimension (p = 0.038). In addition, annual bleeding rate showed significant negative correlations with physical health dimension (rs = −0.609, p < 0.001), mental health dimension (r = −0.317, p = 0.044), and total Short Form-36 (r = −0.455, p = 0.003) scores. In multiple linear regression analysis, disease severity revealed a significant negative relationship with scores in physical function (p = 0.001), role physical (RP) (p = 0.015), general health (GH) (p = 0.006), physical health dimension (p = 0.006), and marginally in total Short Form-36 score (p = 0.054). Also, age of the patients showed a significant negative association with physical function and GH scores (p < 0.001 and p = 0.015, respectively). Conclusion: Disease severity and age were shown as independent factors affecting health-related quality of life, but inhibitor alone was not an independent influencing factor. Reduced health-related quality of life was also observed in hemophilia patients with higher annual bleeding rate and blood-borne infections. Therefore, it is necessary to pay more attention to these subgroups. Further studies with larger sample size are needed for more accurate results.
Non-drug Index Terms
(Based on full text)
adult, aged, article, attention, bleeding, bloodstream infection, body mass, clinical article, cross-sectional study, demographics, disease severity, health, hemophilia, hemophilia A, human, male, mental health, multicenter study, multiple linear regression analysis, physical activity, quality of life, questionnaire, sample size, Short Form 36, univariate analysis
Sheridan N., Thompson B., Lichten L., Coleman K., Sidonio R.
Haemophilia 2023 29:2 (513-520)
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Abstract
Introduction: Mothers of children with haemophilia (CWH) experience guilt related to this genetic condition. Several factors contributing to maternal guilt have been identified, but the scope and extent of guilt have not previously been quantified. Aim: This study provides insight into the experience of mothers of CWH and how they perceive and manage guilt. It then identifies the most common and helpful coping mechanisms. Methods: Between May and October 2021, we distributed an anonymous electronic survey to mothers of CWH. The Parent Experience of Child Illness measured maternal guilt, the PROMIS Parent Proxy for Life Satisfaction measured perception of their child's life satisfaction and additional questions explored specific guilt factors and coping strategies. Results: Eighty-seven mothers responded to the survey. Forty percent of mothers experienced increased guilt. The most common reasons for guilt included putting their child through pain during infusions and passing on the affected X chromosome. Perceived life satisfaction, increased age and genetic counselling were associated with less guilt. The most common coping strategies involved utilizing social support, self-education and connecting with other mothers in the community. Conclusion: Some mothers experienced increased feelings of guilt, illustrating the need for providers to tactfully provide anticipatory guidance and counselling. Tangible manifestations of haemophilia were more likely to trigger feelings of guilt than familial factors. Community immersion was beneficial, as other mothers in the community served as a source of social and educational support. Most mothers did not report guilt, illustrating the adaptability and resilience of the haemophilia community.
Non-drug Index Terms
(Based on full text)
adolescent, adult, age, aged, anticipatory guidance, article, child, child health, coping behavior, cross-sectional study, disease association, emotion, female, genetic counseling, guilt, health education, hemophilia, human, infant, life satisfaction, major clinical study, male, maternal behavior, mother child relation, pain, psychological resilience, quality of life, social support, X chromosomal inheritance
Mancuso M.E., Holstein K., O‘Donnell J.S., Lobet S., Klamroth R.
Haemophilia 2023 29:2 (619-628)
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Abstract
Introduction: Synovitis, a common feature in haemophilia, is triggered by the presence of blood in joints, and represents the first step towards the development of chronic arthropathy. Synovitis may be detected early by means of ultrasound or magnetic resonance imaging scan; clinical joint scores are less sensitive in this setting. Regular long-term prophylaxis with clotting factor concentrates, as primary prophylaxis and tailored to individual needs, has high efficacy in preventing synovitis. In general, higher factor levels lower bleeding risk, but no direct correlation between factor levels and synovitis incidence has been demonstrated. Aim: This study aimed to develop an expert consensus relating to the definition, pathophysiology, diagnosis, prevention, follow-up and treatment of synovitis, recognising its relevance for joint health and taking into account existing knowledge gaps. Methods: A Delphi consensus study was designed and performed. An expert group prepared 22 statements based on existing literature; a wider expert panel subsequently voted on these. Results: Retention of panellists was high. Four statements required amending and consensus on all statements was achieved after three rounds of voting. Conclusion: This e-Delphi consensus study addressed the importance of synovitis in joint health of people with haemophilia and highlighted knowledge gaps in this field. Studies on the natural course of synovitis are lacking and the biological mechanisms underlying this process are not yet fully elucidated. While basic and clinical research proceeds in this field, expert consensus can help guide clinicians in their routine clinical practice, and Delphi methodology is often used to produce best-practice guidelines.
Drug Index Terms
(Based on full text)
blood clotting factor 8 concentrate (drug therapy)
Non-drug Index Terms
(Based on full text)
arthropathy, article, clinical research, Delphi study, diagnostic procedure, disease classification, disease course, European, follow up, hemophilia (drug therapy), human, knowledge gap, medical expert, nuclear magnetic resonance imaging, pathophysiology, point of care ultrasound, practice guideline, prophylaxis, synovitis (diagnosis, etiology, prevention)
Intraarticular management of chronic haemophilic arthropathy (Review)
Poenaru D., Sandulescu M.I., Cinteza D.
Biomed. Rep. 2023 19:3
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Abstract
Hemophilia is an inherited X-linked bleeding condit ion wit h predomi nant joi nt i nvolvement due to intra-articular bleeding, hemosiderin deposition and the synovial hypertrophy that is responsible for cartilage destruction, joint deformity and malalignment, pain and functional restriction. Management of chronic arthropathy includes conservative and surgical approaches. Conservative therapies consist of pain modulation, oral drugs, physiotherapy and intra-articular agents. For the present review, the literature was searched for intra-articular agents and 20 papers on the use of corticosteroids (CS), hyaluronic acid (HA) and platelet-rich plasma (PRP), with different regimes of administration, were included. CS had a longer record of injection, with statistically significant pain reduction and functional improvement in the short-term and moderate persistence in the long-term. HA was able to improve the clinical and functional status of joints with moderate or severe hemophilia. PRP was relatively recently introduced to joint management and the results remain controversial. Different associations between the above-mentioned agents were proposed by studies including a small number of patients, producing comparable results. It was concluded that there is a need for extensive research on intra-articular agents, with stratification according to the severity of joint involvement. The lack of a blinded or placebo-controlled arm due to ethical aspects makes the task challenging.
Drug Index Terms
(Based on full text)
antiinflammatory agent, corticosteroid (intraarticular drug administration), hemosiderin (endogenous compound), hyaluronic acid, lidocaine, methylprednisolone (intraarticular drug administration), ropivacaine, triamcinolone
Non-drug Index Terms
(Based on full text)
analgesia, arthropathy, article, articular cartilage, bone remodeling, cartilage degeneration, case study, chondrocyte, chronic hemophilic arthropathy, clinical assessment, comparative study, conservative treatment, functional status, hemophilic arthropathy, human, hypertrophy, pain, physiotherapy, pilot study, prophylaxis, prospective study, randomized controlled trial (topic), retrospective study, surgical approach, synovial hypertrophy, systematic review, thrombocyte rich plasma, ultrasound, Western Ontario and McMaster Universities Osteoarthritis Index, X linked sideroblastic anemia, X ray
Management of abdominal pseudotumours in haemophilia: a systematic review
Von Stauffenberg F., Hegemann I., Schwotzer R., Lehmann K., Widmer J.
Swiss Med Wkly 2023 153: (40094)
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Abstract
AIM: Haemophilic pseudotumours are complications in patients with haemophilia A or B and result from locally repetitive bleeding, mainly in the musculoskeletal system. Abdominal haemophilic pseudotumours are exceptionally rare but may cause severe complications. This systematic review aimed to evaluate therapy strategies for symptomatic abdominal haemophilic pseudotumours. METHODS: We systematically searched three databases (Medline [PubMed], Web of Science and EMBASE) for publications published between 1995 and 2023. Two reviewers independently selected the studies, extracted data and performed a quality assessment using the JBI critical appraisal checklist. RESULTS: From a total of 1199 articles, 39 articles describing 41 cases were included for final analysis. Conservative or interventional treatment was performed in 12 cases. In eight cases, a step-up to surgical therapy after interventional treatment was indicated. Primary surgical therapy was performed in 21 cases. Failure to cure was documented in 50% (n = 6) of patients treated in the first group, with a mortality rate of 16.6% (n = 2). Interventional therapy with a step-up to surgery showed no morbidity or mortality. Primary surgical resection documented favourable results in 66.6% (n = 14), with failure to cure in 9.5% (n = 2) and a mortality rate of 14.3% (n = 3). CONCLUSION: Primary surgical resection can be a first-line therapy for symptomatic, abdominal haemophilic pseudotumours, whereas preoperative embolisation could be used as a bridging therapy before surgery, especially in emergency settings. Diagnostic biopsy and percutaneous drainage should be avoided to prevent complications.
Non-drug Index Terms
(Based on full text)
abdomen, behavior therapy, biopsy, complication, hemophilia A (therapy), human, medicine
Mabrouk A.G., Abbas M.A.E.-B., Ezzat D.A., Sayed M.T., Ali F.M.
[In Process] J. Pediatr. Hematol. Oncol. 2023 45:6 (344-348)
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Abstract
Hemophilia is an X-linked recessive disorder. Children with hemophilia go through spontaneous and trauma-provoked bleeding. Recurring joint bleeds lead to ongoing incapacity. Achieving healthy joints is the primary target of hemophilia management. The current study objective was to assess hemophilic joints in individuals with hemophilic arthropathy clinically, radiographically, and functionally. This cross-sectional study included 50 children with severe hemophilia A who were selected from the pediatric hematology clinic. All children were assessed for Hemophilia Joint Health Score (HJHS). Joint assessed functionally by Functional Independence Score in Hemophilia (FISH) and radiologically by plain radiograph and scored by the Pettersson scoring system. Data were analyzed using Statistical Package for Social Sciences. The mean age of the studied cases of hemophilia was 8.5±3.1 years. The mean FISH score among the studied patients was 26.8±4.2, the mean HJHS was 16.8±12.8, and the Pettersson score was 4.9±2.7. The number of affected joints showed a significant negative correlation to the FISH score and a significant positive correlation to HJHS. The frequency of hemarthrosis/month showed a significant positive correlation to HJHS. The number of affected joints showed a significant negative correlation to the FISH score and a significant positive correlation to HJHS. Frequency of hemarthrosis/month showed a significant positive correlation to HJHS.
Non-drug Index Terms
article, child, clinical article, clinical assessment, controlled study, cross-sectional study, female, hemarthrosis, hematology, hemophilia, hemophilia A, hemophilic arthropathy, human, male, pediatric patient, school child, scoring system, sociology, X ray film
Hemophilia patients: are they naturally anticoagulated?
Tripodi A., Mannucci P.M., Peyvandi F.
Intern Emerg Med 2023 18:5 (1251-1254)
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Abstract
Hemophilia is an X-linked bleeding disorder, characterized by low plasma levels of coagulation factor VIII (FVIII) (hemophilia A) or FIX (hemophilia B). Because of this, hemophilia patients (HP) were considered as naturally-anticoagulated and therefore protected from thrombosis. Over the last decades hemophilia care underwent striking changes by the introduction of prophylaxis with repeated injections of standard or modified coagulation factor products that maintain steady-state trough levels of the deficient factor. Meanwhile, new medications, not based on replacement therapy, were developed (i.e., emicizumab and others). However, emicizumab (the only licensed drug) can be used only for prophylaxis; during acute bleeding or surgery, HP require additional therapies, supplementing emicizumab with FVIII/IX concentrates or with bypassing agents (e.g., recombinant activated FVII or activated prothrombin complex concentrate). Owing to the new therapeutic strategies, the hemostatic competency of HP is now much better assured than in the past and therefore their life expectancy is considerably improved. Furthermore, the combined effects of the improved life-expectancy and of the steady-state hemostatic competence achieved by prophylaxis, make HP to be near(normal). They are, therefore, liable to be affected by the circumstantial risk factors of venous thromboembolism (VTE) that are common in the general population. Furthermore, HP undergo frequent surgery/invasive procedures (especially major orthopedic surgery) when they are treated with coagulation factor concentrates or bypassing agents that may increase the risk of post-operative VTE. Therefore, one wonders if HP should be considered for perioperative antithrombotic prophylaxis to prevent postoperative VTE.Clinical data on the value of antithrombotic prophylaxis in this setting are scanty. Indeed, data from an observational multicentre prospective study of 46 HP who underwent orthopedic surgery concluded that the prevalence of postoperative symptomatic VTE was similar to that estimated in the general population. Multicenter prospective trials are warranted to address the value of antithrombotic prophylaxis to avoid post-operative VTE in HP, especially during major surgery when regular prophylaxis is supplemented with additional coagulation factor products or bypassing agents. Until this information is available, HP undergoing major surgery whilst on antihemorrhagic prophylaxis supplemented with coagulation factor concentrates or bypassing agents, should at least receive intermittent pneumatic compression.
Drug Index Terms
(Based on full text)
blood clotting factor (drug therapy), fibrinolytic agent (drug therapy), hemostatic agent (drug therapy)
Non-drug Index Terms
(Based on full text)
clinical trial, hemophilia A (drug therapy), human, multicenter study, prospective study, venous thromboembolism (drug therapy)
No difference in quality of life between persons with severe haemophilia A and B
Kihlberg K., Baghaei F., Bruzelius M., Funding E., Andre Holme P., Lassila R., Nummi V., Ranta S., Gretenkort Andersson N., Berntorp E., Astermark J.
Haemophilia 2023 29:4 (987-996)
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Abstract
Introduction: Good health-related quality of life (HRQoL) is an important goal in the treatment of persons with haemophilia B (PwHB). Studies focusing on this population are limited, however, and data are insufficient. Aim: To assess the HRQoL in PwHB and to compare this to data on persons with haemophilia A (PwHA), as well as to evaluate the impact of joint health on HRQoL and to identify areas of insufficient care. Methods: The B-NORD study enrolled persons with severe haemophilia B and matched controls with haemophilia A. HRQoL was assessed using the EQ-5D-3L questionnaire and joint health using Haemophilia Joint Health Score 2.1 (HJHS). Results: The EQ-5D-3L was completed by 63 PwHB and 63 PwHA. Mobility problems were reported by 46% of PwHB and 44% of PwHA, pain/discomfort by 62% and 56%, and anxiety/depression by 33% and 17%, respectively. No significant difference was observed between PwHA and PwHB in EQ-5D profiles, level sum score, EQ-5D index (PwHB mean.80, PwHA mean.83, p =.24), or EQ VAS score (PwHB: mean 70, PwHA: mean 77, p =.061). Linear regression adjusted for age demonstrated that an increase in HJHS score was associated with a significant decrease in both EQ-5D index (B -.003, R2.22) and EQ VAS score (B -.37, R2.17). Conclusion: Despite the majority of patients being treated with prophylaxis, impaired HRQoL was reported in both PwHB and PwHA. No differences in HRQoL were found between the two groups. Impaired joint health had a significant negative impact on HRQoL.
Drug Index Terms
(Based on full text)
antidepressant agent (drug therapy, special situation for pharmacovigilance), anxiolytic agent (drug therapy, special situation for pharmacovigilance), blood clotting factor 9 (endogenous compound), buprenorphine (drug therapy, special situation for pharmacovigilance), codeine (drug therapy, special situation for pharmacovigilance), nonsteroid antiinflammatory agent (drug therapy, special situation for pharmacovigilance), oxycodone (drug therapy, special situation for pharmacovigilance), paracetamol (drug therapy, special situation for pharmacovigilance), pregabalin (drug therapy, special situation for pharmacovigilance), tramadol (drug therapy, special situation for pharmacovigilance)
Non-drug Index Terms
(Based on full text)
adolescent, adult, age distribution, aged, anxiety disorder (drug therapy), arthropathy, article, controlled study, Denmark, depression (drug therapy), disease severity, European Quality of Life 5 Dimensions 3 Level questionnaire, European Quality of Life 5 Dimensions Visual Analogue Scale, hemophilia A, hemophilia B, Hemophilia Joint Health Score, human, linear regression analysis, major clinical study, male, multicenter study, Norway, observational study, pain (drug therapy), patient, patient care, person with hemophilia A, person with hemophilia B, prophylaxis, quality of life, quality of life assessment, Sweden, walking difficulty
Clotting factor activity levels and bleeding risk in people with haemophilia playing sports
Versloot O., Kemler E., Blokzijl J., Timmer M., Schuuring M., van Galen K.P.M., Kremer Hovinga I.C.L., van der Valk P.R., van Vulpen L.F.D., Schutgens R.E.G., van Koppenhagen C.F., van der Net J., Fischer K.
Haemophilia 2023 29:4 (1013-1023)
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Abstract
Background: Improved treatment options for people with haemophilia (PWH) have increased the possibilities for sports participation, but the risk of sports-induced bleeding (SIB) is still considered considerable by many. Aim: To assess sports associated injury- and bleeding risk in PWH and to assess clotting levels associated with safe sports participation. Methods: Sports injuries and SIBs were prospectively collected for 12 months in PWH aged 6–49 without inhibitors playing sports at least once weekly. Injuries were compared according to factor levels, severity, joint health, sports risk category and sports intensity. Factor activity at the time of injury was estimated using a pharmacokinetic model. Results: 125 participants aged 6–49 (41 children, 90% haemophilia A; 48% severe, 95% severe on prophylaxis) were included. Sports injuries were reported by 51 participants (41%). Most participants (62%) reported no bleeds at all and only 16% reported SIBs. SIBs were associated with factor levels at time of injury (OR: 0.93/%factor level (CI 0.88–0.99); p =.02), but not with haemophilia severity (OR: 0.62 (CI 0.20–1.89); p =.40), joint health, sports risk category or sports intensity. PWH with factor levels <10% during sports injury had a bleeding risk of 41% versus 20% in those with higher (>10%) factor levels. Conclusion: The results of this study emphasize the importance of clotting factor levels in prevention of bleeds. This information is vital for patient counselling and tailoring prophylactic treatment with clotting factors and non-replacement therapy.
Drug Index Terms
(Based on full text)
blood clotting factor (endogenous compound)
Non-drug Index Terms
(Based on full text)
adolescent, adult, article, bleeding, bleeding risk score, child, confidence interval, controlled study, disease severity, female, hemophilia, hemophilia A, human, joint, major clinical study, male, odds ratio, prospective study, sport, sport injury
Arvanitakis A., Holme P.A., Berntorp E., Astermark J.
Haemophilia 2023 29:4 (1032-1038)
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Abstract
Introduction: The timing of prophylaxis and F8 genotype can impact treatment outcomes in adults with severe haemophilia A (HA). Aim: To investigate how F8 genotype, timing, and type of prophylaxis influence arthropathy, bleeding rates, factor consumption and health-related quality of life (HRQoL). Methods: Thirty-eight patients with severe HA were enrolled. Bleeding events were recorded retrospectively during median 12.5 months. F8 gene variants were classified as null or non-null. Joint health and HRQoL were assessed with HJHS and EQ-5D-5L, respectively. Results: The median age at prophylaxis start was 1.25 years in the primary prophylaxis group (N = 15, median age 26 years) and 31.5 years in the secondary group (N = 22, 45 years), respectively. There were significant differences in the medians of HJHS (4 vs. 20, p <.001), EQ-5D-5L index (0.9647 vs. 0.904, p =.022), EQ VAS (87 vs. 75, p =.01) and FVIII consumption (3883 vs. 2737 IU/kg/year, p =.02), between the primary and secondary groups, respectively. Median annualized bleeding rate (ABR) was 0 for both groups. Twenty-five null and thirteen non-null F8 gene variants were identified. In the secondary prophylaxis group, lower median FVIII consumption (1926 vs. 3370 IU/kg/year) was shown for non-null compared to null variants, respectively, with similar ABR and HJHS. Conclusion: Delayed prophylaxis start with intermediate dose intensity prevents bleeds but at a cost of more arthropathy and reduced HRQoL, compared to higher intensity primary prophylaxis. Non-null F8 genotype may allow lower factor consumption with similar HJHS and bleeding rates, compared to null genotype.
Drug Index Terms
(Based on full text)
blood clotting factor 8 (drug therapy, pharmacoeconomics)
Non-drug Index Terms
(Based on full text)
adult, age, arthropathy, article, bleeding, clinical article, controlled study, European Quality of Life 5 Dimensions 5 Level questionnaire, European Quality of Life 5 Dimensions Visual Analogue Scale, genetic variability, genotype, hemophilia A (disease management, drug therapy, prevention), human, primary prevention, prophylaxis, quality of life, retrospective study, secondary prevention
Foubert A., Chantrain V.-A., Meeus M., Maes P., Haenen V., Lobet S., Lambert C., Hermans C., Roussel N.
[Article in Press] Haemophilia 2023 :
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Abstract
Background: Joint pain is the hallmark of haemophilia; therefore it seems clinically rather a musculoskeletal than a bleeding disorder. Although joint pain in people with haemophilia (PwH) is a complex and multidimensional problem, pain assessment remains primarily focused on the structural evaluation of their joints. Whereas, only few data are available on the potential implication of psychophysical and psychological factors. Objective: This study aimed to perform a psychophysical pain assessment including quantitative sensory testing (QST) and an evaluation of psychological factors in a large sample of PwH, to get insight into the individuals’ pain system. Methods: Ninety-nine adults (36.9 ± 13.5 years) with moderate/severe haemophilia A/B and 46 healthy controls filled in self-reported pain and psychological questionnaires and underwent a QST evaluation including static and dynamic tests. Static tests focused on the determination of thermal detection and pain thresholds and mechanical pressure pain thresholds. Dynamic tests evaluated pain facilitation and the efficacy of endogenous pain inhibition. Besides comparing PwH and healthy controls, between-subgroup differences were studied in PwH based on their pain distribution. Results: The study revealed increased thermal and mechanical pain sensitivity and the presence of unhelpful psychological factors such as anxiety/depression in PwH. Among the subgroups, especially PwH with widespread pain showed altered somatosensory functioning. Enhanced pain facilitation and impaired efficacy of endogenous pain inhibition in PwH could not be observed. Conclusion: Altered somatosensory functioning and unhelpful psychological factors, appear to play an important role in the pathophysiology of pain in PwH, especially in PwH with widespread pain.
Non-drug Index Terms
adult, anxiety, arthralgia, article, clinical article, controlled study, cross-sectional study, depression, facilitation, female, hemophilia, hemophilia A, hemophilia B, human, human tissue, male, nociception, pain assessment, pain threshold, pressure pain threshold, psychological aspect, quantitative sensory testing, questionnaire
Tedeschi R.
Int. J. Surg. Case Rep. 2023 110:
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Abstract
Introduction: Acquired haemophilia-A, although uncommon in elderly patients, poses significant clinical challenges, especially when associated with profound musculoskeletal complications. The potential mimicry of hematomas as tumors further complicates the diagnostic process. Case presentation: An 85-year-old male, with a remote history of hypertension, benign prostatic hyperplasia, and right inguinal hernia, presented with acute pain in the left lower limb, functional limitation, and deep hematomas in the ileopsoas and axillary region. Initial suspicions of a sarcomatous lesion in the ileopsoas, based on radiological findings, were refuted following histopathological examinations, which confirmed the presence of necrotic hemorrhagic tissue. The patient underwent a one-month physical therapy regimen, targeting lower extremity muscles, especially around the hip joint. Clinical discussion: The severity of the presentation and the involvement of vital muscles like the ileopsoas and quadriceps underscored the importance of comprehensive rehabilitation. Consistent therapeutic interventions, targeting muscle strength and joint function, demonstrated marked improvement as evidenced by the HJHS, HAL, and FISH scores. The multidisciplinary approach, entailing hematological, rehabilitative, and supportive measures, was paramount in ensuring holistic patient recovery. Conclusions: Acquired haemophilia-A in the elderly necessitates an integrative care approach, encompassing accurate diagnosis and tailored therapeutic interventions. This case emphasizes the transformative potential of dedicated physiotherapy in managing the musculoskeletal implications of this bleeding disorder, underscoring the value of early intervention and comprehensive care.
Drug Index Terms
(Based on full text)
antiinflammatory agent (drug therapy, special situation for pharmacovigilance), blood clotting factor 8 (endogenous compound), steroid (drug therapy, intramuscular drug administration, special situation for pharmacovigilance)
Non-drug Index Terms
(Based on full text)
abduction, acquired hemophilia A, aged, article, case report, clinical article, crutch, excisional biopsy, femoral nerve, follow up, functional status, hemophilia A, hip pain, histopathology, hospital admission, hospital discharge, human, human tissue, hypertension, iliopsoas muscle, inguinal hernia, joint mobility, kinesiotherapy, knee function, leg pain, low back pain, lower limb, lumbar disk hernia (drug therapy), male, medical history, muscle hematoma, muscle strength, nerve compression, nuclear magnetic resonance imaging, numeric rating scale, paresthesia, physiotherapy, prostate hypertrophy, quadriceps femoris muscle, rollator, steroid therapy, thigh, very elderly, walking difficulty, x-ray computed tomography
Minervini G., Marrapodi M.M., Tirupathi S., Afnan L., Ronsivalle V., Cervino G., Cicciù M.
[Article in Press] J Oral Rehabil 2023 :
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Abstract
BACKGROUND: Haemophilia A, B and von Willebrand disease are the most common bleeding disorders. There is an increased tendency of spontaneous bleeding into joints resulting in intra-articular infection. It is believed that Temporomandibular Joint (TMJ) can be affected in a similar manner which can further lead to limited mouth opening and ankylosis. The association between bleeding disorders (BD) and development of temporomandibular disorders (TMD) is poorly understood. This systematic review intends to evaluate the association of TMD in individuals with inherited bleeding disorders as compared to healthy controls. METHODS: PubMed, Ovid SP and Google Scholar were searched for articles published between the times of inception to 1 May 2023. All the articles were subjected to Population, Exposure, Comparison and Outcome model (PECO) based on which inclusion and exclusion criteria were applied. Participants (P) is children, adults or adolescents; Exposure (E) is children, adults or adolescents with a diagnosis of Haemophilia or bleeding disorder (BD); Comparator (C) is age and gender-matched healthy controls who do not have Haemophilia or bleeding disorder; Outcome (O) is prevalence of any signs or symptoms (clinical, radiographic) that is suggestive of temporomandibular disorder (TMD). Studies showing the prevalence of TMD are included for qualitative analysis. Only the studies which provided data of the prevalence of TMD in both the groups (BD and healthy controls) were included in the quantitative analysis. TMD diagnosis can be by clinical signs and symptoms, radiographic criteria, Diagnostic Criteria for Temporomandibular Disorders (DC/TMD), The Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) or any other imaging criteria (MRI). We have set the exclusion criteria as articles without a control group, diagnostic sensitivity studies, case reports and systematic reviews and narrative reviews. The software Review Manager version 5.4 (Cochrane Collaboration) was used to perform the pooled analysis. We measured the risk ratio (RR) between the two groups (BD and healthy controls) for the outcome TMD. RESULTS: A total of seven studies are included for qualitative analysis of data. The age of the population (BD and control) in the included studies ranged between 2 and 57 years. The prevalence of TMD in individual studies varied from 2% to 77%, and controls in the individual studies varied from 2% to 14%. Among the included studies, only clinical signs, symptoms and history were taken into consideration in four studies. Four studies were included for meta-analysis, the pooled result of the four studies suggests there is no significant difference in the prevalence of TMD in BD and control group (p value = .11, RR 2.19; 95% CI [0.84, 5.73]). CONCLUSION: This systematic review and meta-analysis elicits no association between bleeding disorders and increased prevalence of TMD.
Non-drug Index Terms
adolescent, adult, bleeding disorder, blood clotting disorder, bruxism, child, diagnosis, diagnostic test accuracy study, female, gender, hemophilia, human, male, manager, Medline, meta analysis, narrative, nuclear magnetic resonance imaging, outcome assessment, population exposure, prevalence, qualitative analysis, quantitative analysis, Research Diagnostic Criteria, review, search engine, sleep disorder, software, systematic review, temporomandibular joint, temporomandibular joint disorder, von Willebrand disease
Donati D., Spinnato P., Valdrè L., Piscitelli L., Farella G.M., Pagliarulo E., Benedetti M.G.
J. Clin. Med. 2023 12:13
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Abstract
Background: Hemophilia is a inherited bleeding disorder that is characterized by intra-articular bleeding (hemarthrosis). The aim of the study was to evaluate the state of the satellite tendons of the target joints in the patient with hemophilic arthropathy and propose rehabilitation treatment with eccentric exercises. Methods: The tendons of the joints mainly affected by hemophilic arthropathy were evaluated by ultrasound. The ultrasound evaluation is associated with the use of evaluation clinical scales, such as the Hemophilia Joint Health Score (HJHS), the Functional Independence Score in Hemophilia (FISH), the Hemophilia Activity List (HAL), the DASH, the VISA-A, the VISA-P, and the VAS scale. Results: In 20 patients with hemophilic arthropathy, the thickness of the tendons that were examined was normal. In six subjects with severe joint damage, echostructural alterations were present, and signs of hyperemia and neo-vascularization were detected on color Doppler, as well as the presence of intratendinous calcifications. Conclusions: The tendons of the target joints in patients with hemophilic arthropathy are compromised by the indirect biomechanical damage caused by the joint disease, and rehabilitation treatment with eccentric exercises can be considered safe and effective in improving the tenso-elastic properties of the tendons.
Non-drug Index Terms
(Based on full text)
achilles tendon, adult, arthropathy, article, biomechanics, calcification, clinical article, clinical assessment, clinical effectiveness, color Doppler flowmetry, Disability of the Arm Shoulder and Hand Questionnaire, disease severity, echography, evaluation study, exercise, Functional Independence Score in Hemophilia, hemophilia, hemophilia A, Hemophilia Activity List, hemophilia B, Hemophilia Joint Health Score, hemophilic arthropathy (diagnosis, rehabilitation), human, hyperemia, joint destruction, male, neovascularization (pathology), patellar ligament, patient safety, rating scale, rehabilitation care, scoring system, tendinitis (diagnosis, rehabilitation), tendon, vascularization, Victorian Institute of Sports Assessment Achilles Questionnaire, Victorian Institute of Sports Assessment Patellar Questionnaire, visual analog scale
Synovitis in hemophilia: preventing, detecting, and treating joint bleeds
Rodriguez-Merchan E.C.
Expert Rev. Hematol. 2023 16:7 (525-534)
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Abstract
Introduction: Most bleeding events in individuals with hemophilia occur within the ankle, knee, and elbow joints. Should the bleeding persist, the synovial membrane starts to hypertrophy and a vicious cycle of chronic hemophilic synovitis (CHS) occurs, leading to joint destruction. Areas covered: This article covers the prompt diagnosis of CHS by point-of-care ultrasonography (POC-US) and its treatment by means of several types of synovectomy. Expert opinion: It is essential to prevent, detect and treat hemophilic synovitis, because it indicates that the joint has bled and is at risk of bleeding further. Prophylaxis with standard half life (SHL) factor VIII (FVIII) concentrate is the standard of care for individuals with severe hemophilia A and can also be considered for selected patients with moderate disease. Several years of real-world experience with extended half life (EHL) FVIII, emicizumab, and other drugs in development will be needed to ascertain their final effect on bleeding and its complications. We must look for synovitis in individuals declaring joint pain and in asymptomatic patients, and POC-US is the most reasonable imaging instrument with which to carry out periodic joint screening. Radiosynovectomy, chemical synovectomy, and arthroscopic synovectomy markedly reduce bleeding events.
Drug Index Terms
(Based on full text)
blood clotting factor 8 concentrate, codeine, dipyrone, emicizumab, enzyme precursor, hyaluronic acid, oxytetracycline, paracetamol, rifampicin, tramadol, tumor necrosis factor (endogenous compound), tumor necrosis factor inhibitor, vasculotropin (endogenous compound), yttrium 90
Non-drug Index Terms
(Based on full text)
arterial embolization, arthralgia, arthroscopic synovectomy, asymptomatic disease, chemical synovectomy, chronic hemophilic synovitis (diagnosis, surgery), conservative treatment, contrast-enhanced ultrasound, echography, extended half life, half life time, health care cost, health care quality, hemarthrosis, hemophilia, hemophilia A, human, joint degeneration, long term care, personal experience, point of care ultrasound, primary prevention, radiosynovectomy, review, risk assessment, risk factor, short course therapy, synovectomy, synovitis (diagnosis, surgery), telemedicine, treatment indication
van Bergen E.D.P., van Leeuwen F.H.P., Foppen W., Timmer M.A., Schutgens R.E.G., Mastbergen S.C., Lafeber F.P.J.G., de Jong P.A., Fischer K., van Vulpen L.F.D.
[Article in Press] [In Process] Haemophilia 2023 :
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Abstract
Aim: Subclinical bleeding and inflammation play a role in progression of haemophilic arthropathy. Synovial proliferation is predictive of joint bleeding and its early detection may guide treatment changes and prevent arthropathy progression. This study evaluated the prevalence of active and inactive subclinical synovial proliferation and investigated potential biochemical blood/urine markers to identify patients with active subclinical synovial proliferation. Methods: This cross-sectional study included patients with severe haemophilia A born 1970–2006 who were evaluated during routine clinic visits. Patients with (a history of) inhibitors or recent joint bleeding were excluded. Elbows, knees and ankles were examined for subclinical synovial proliferation by ultrasound and physical examination. Active synovial proliferation was distinguished from inactive synovial proliferation using predefined criteria. Blood/urine biochemical markers (serum osteopontin, sVCAM-1, Coll2-1, COMP, CS846, TIMP, and urinary CTX-II) were compared individually and as combined indexes between patients with and without active synovial proliferation. Results: This cohort consisted of 79 patients with a median age of 31 years (range 16.5–50.8 years) with 62/79 (78%) of the patients using continuous prophylaxis. The annualized joint bleeding rate over the last 5 years was.6 (.2–1.1). Active (17/79, 22%) and inactive subclinical synovial proliferation (17/79, 22%) were both prevalent in this cohort. Biochemical markers were not correlated with active subclinical synovial proliferation. Conclusion: Subclinical synovial proliferation, both active and inactive, was prevalent in patients with severe haemophilia A with access to prophylaxis and would be overlooked without routinely performed ultrasounds. Biochemical markers were unable to identify patients with active subclinical synovial proliferation.
Drug Index Terms
biochemical marker, biological marker, collagen type 2, endogenous compound, osteopontin, vascular cell adhesion molecule 1
Non-drug Index Terms
adolescent, adult, ankle, arthropathy, article, cell proliferation, clinical assessment, cohort analysis, controlled study, cross-sectional study, echography, elbow, female, hemarthrosis, hemophilia, hemophilia A, hemophilic arthropathy, human, human tissue, inflammation, knee, major clinical study, male, physical examination, prevalence, prevention, prophylaxis, synovitis
How good does ChatGPT answer frequently asked questions about haemophilia?
Vandewyngaert C., Iarossi M., Hermans C.
[Article in Press] [In Process] Haemophilia 2023 :
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Non-drug Index Terms
ChatGPT, hemophilia, human, letter
Jain A., Jain A., Saini P.A.
[In Process] J. Cardiovasc. Dis. Res. 2023 14:5 (1599-1602)
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Abstract
Background & Method: The aim of the study is to find the correlation of the clinical findings with the hematological findings in patients with bleeding manifestations. A blood pressure cuff inflates around the upper arm of patient. While the cuff is on the arm, a prick is given on the fingertip. It is just deep enough to cause a tiny amount of bleeding. The blood pressure cuff is immediately deflated. Blotting paper is touched to the cuts every 30 seconds until the bleeding stops. The time taken for the cuts to stop bleeding is recorded. Result: Idiopathic thrombocytopenic purpura is more common in females (78%, as compared to males (22%). Similarly Systemic diseases causing bleeding manifestations are more common in females (63%) as compared to males (37%). But the same is not true in case of Aplastic anemia where males (71%) are more commonly affected than females (62%). While in case of haemophilia, the disease is 100%prevalent in males with 0% females. Conclusion: It is also our observation that many patients having hemostatic disorders do not necessarily have prolonged bleeding or clotting time which means that hemostasis is dependent on many other unknown in vitro (technical considerations) or in vivo (over the counter drugs) factors. Among the bleeding disorders platelet disorders (74%) are more common than coagulation disorders (15%). 87% cases are found to share clinical & hematological findings while no correlation seen in 13% cases.
Drug Index Terms
non prescription drug
Non-drug Index Terms
adult, aplastic anemia, arm, article, bleeding disorder, blood clotting disorder, blood clotting time, blood pressure cuff, blotting, controlled study, hemophilia, hemostasis, human, idiopathic thrombocytopenic purpura, systemic disease, thrombocyte disorder
Puetz J.
[In Process] J. Thromb. Haemost. 2023 21:8 (2305-2306)
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Non-drug Index Terms
gene therapy, hemophilia, hepatologist, human, letter
Miesbach W., Foster G.R., Peyvandi F.
[In Process] J. Thromb. Haemost. 2023 21:8 (2307-2308)
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Non-drug Index Terms
gene therapy, hemophilia, hepatologist, human, letter
