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Ciavarella A., Truma A., Ballardini F., Abbattista M., Arcudi S., Gualtierotti R., Mistretta C., Nicolò G., Novembrino C., Siboni S., Peyvandi F.
Blood Transfusion 2023 21: (s547)
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Abstract
Background. Prophylaxis with factor VIII (FVIII) products has become the evidence-based standard of care in patients with hemophilia A (HA). FVIII products with extended half-life (EHL) showed to be more effective compared with older products, with increased through levels and reduced number of week infusions. However, real-word data on prophylaxis with EHL products are limited. Aims. To evaluate prophylaxis with EHL products in patients with HA and to compare measures of efficacy and tolerability observed during prophylaxis with EHL products with those during previous prophylaxis regimens. Methods. We performed an observational study on patients with HA in prophylaxis with EHL FVIII with a minimum follow-up of 12 months. Exclusion criteria were previous on-demand regimen, enrollment in phase II-III trials, and dose adjustment due to weight gain or concomitant anticoagulation. Intervals of infusion, annual unit consumption for prophylaxis, annualized bleeding rates (ABRs), percentage of bleed-free patients, and trough levels were compared to the same variables during previous prophylaxis with standard half-life FVIII products. Furthermore, data were evaluated according to type of EHL product, recombinant factor VIII-Fc fusion or pegylated FVIII products. Results. 70 patients have been evaluated, of whom 48 met the inclusion criteria. Our switched therapeutic approach with EHL FVIII products resulted in prolonged intervals between infusions (from 2.5 to 4.0 days), increased trough levels (from 2.0 to 5.2%), and a subsequent improvement of bleeding manifestations, with the reduction of ABR (from 1.2 to 0.4) and a higher prevalence of bleed-free patients (from 58 to 79%). In addition, we observed a 19% reduction of the annual unit consumption, as shown in Table. Similar results were observed stratifying patients for the type of EHL product. Conclusions. Our real-word data show good efficacy of FVIII EHL products. Prophylaxis with EHL products may lead to improved quality of life and treatment burden reduction. (Table Presented).
Drug Index Terms
(Based on full text)
blood clotting factor 8, recombinant blood clotting factor 8
Non-drug Index Terms
(Based on full text)
adult, anticoagulation, bleeding, body weight gain, conference abstract, drug therapy, female, follow up, half life time, hemophilia A, human, major clinical study, male, observational study, prevalence, prophylaxis, quality of life
Verhagen M.J.A., van Balen E.C., Blijlevens N.M.A., Coppens M., van Heerde W.L., Leebeek F.W.G., Rijpma S.R., van Vulpen L.F.D., Gouw S.C., Schols S.E.M.
[Article in Press] J. Thromb. Haemost. 2023 :
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Abstract
Background: Patients with moderate hemophilia express varying bleeding phenotypes. Objectives: To assess the burden of disease in patients with moderate hemophilia and a mild or severe phenotype incorporating the thrombin generation profile. Methods: This sub-study of the 6th Hemophilia in the Netherlands study, analyzed data of adults with moderate hemophilia A or B. Patient characteristics and information on bleeding tendency, joint status, and quality of life were obtained from electronic patient files and self-reported questionnaires. A severe bleeding phenotype was defined as an annual bleeding rate ≥5, an annual joint bleeding rate ≥3, and/or the use of secondary/tertiary prophylaxis, and a mild phenotype vice versa. TG was measured with the Nijmegen Hemostasis Assay. Results: This study included 116 patients: 21% had a severe phenotype of whom 46% used prophylaxis. Patients with a severe phenotype treated on demand reported a higher median annual bleeding rate (7), annual joint bleeding rate (3), and more frequently an impaired joint (77%) than patients with a severe phenotype on prophylaxis (2; 0; 70%) or patients with a mild phenotype (0; 0; 47%). Furthermore, patients with a severe phenotype treated on demand experienced a more decreased quality of life. Despite similar factor activity levels, patients with a severe phenotype had a lower thrombin peak height and thrombin potential (0.7%; 0.06%) than patients with a mild phenotype (21.3%; 46.8%). Conclusion: Patients with moderate hemophilia and a severe phenotype treated on demand displayed a high burden of disease as well as a low thrombin generation profile advocating them toward more intensive prophylactic treatment.
Drug Index Terms
endogenous compound, thrombin
Non-drug Index Terms
adult, article, bleeding tendency, controlled study, disease burden, female, hemarthrosis, hemophilia, hemophilia A, hemophilia B, hemostasis, human, major clinical study, male, Netherlands, phenotype, prophylaxis, quality of life, questionnaire
Psychophysical assessment of pain in adults with moderate and severe haemophilia: A cross-sectional study
Foubert A., Chantrain V.-A., Meeus M., Maes P., Haenen V., Lobet S., Lambert C., Hermans C., Roussel N.
Haemophilia 2023 29:5 (1243-1258)
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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
(Based on full text)
adult, aged, anxiety disorder, article, controlled study, cross-sectional study, depression, disease severity, hemophilia A, human, major clinical study, nociception, pain assessment, pain threshold, pathophysiology, pressure pain threshold, psychological aspect, psychophysiology, quantitative sensory testing, questionnaire, self report, somatosensory stimulation, thermal analysis
Gorio C., Albrici G., Carracchia G., Bertoni E., Accini W., Rossi S., Notarangelo L.D., Porta F.
Blood Transfusion 2023 21: (s545)
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Abstract
Background. Primary prophylaxis in hemophilic patients is the gold standard treatment for patients with severe hemophilia A and it is recommended in those with moderate hemophilia with serious hemorrhagic phenotype. There is actually low evidence about the best treatment option for patients with mild or moderate hemophilia without severe hemorrhagic history. Methods. We analyzed our experience in patients with mild to moderate hemophilia A (without inhibitors) in prophylactic treatment with recombinant factor VIII. In our centre there are 28 patients with mild to moderate hemophilia; we analyzed data about 8 patients treated with factor VIII with different regimes. For each patient we evaluated: • grade of hemophilia; • age at the beginning of prophylaxis; • type of prophylaxis regimen; • bleeding history the year before and after the beginning of prophylaxis; • main reason to start prophylaxis. Results. In our cohort of 8 patients, 2 had mild hemophilia and 6 had moderate hemophilia. We found high variability in both the age at which prophylaxis was started and the prophylaxis regimes used in our patients (see Table I). All patients had clinical improvement after starting prophylaxis and none of them discontinued therapy. Conclusions. Treatment of mild and moderate hemophilia is dif ficult to standardize. We identified two key moments when patients may need prophylaxis: 1. the beginning of kindergarten, especially for children with lower level of factor VIII because of the liveliness, the risk of trauma and the absence of caregivers at school, 2. during the second ten years of life, because of physical activity, pain and bleeding history. In our experience, individualized therapy is even more crucial than for patients with severe hemophilia; therefore not only phenotype should guide clinicians for starting prophylactic treatment, but also lifestyle, caregiver predisposition and the grade of liveliness of the child, for pediatric patients. Actually it is necessary to start a multicentre prospective study in order to obtain more evidence for guidelines about the use of prophylaxis in mild and moderate hemophilia. (Table Presented).
Drug Index Terms
(Based on full text)
blood clotting factor 8, recombinant blood clotting factor 8
Non-drug Index Terms
(Based on full text)
bleeding, bleeding prophylaxis, caregiver, child, clinical article, conference abstract, controlled study, disease predisposition, drug therapy, female, hemophilia, hemophilia A, human, kindergarten, male, pediatric patient, personalized medicine, phenotype, physical activity, prevention, prophylaxis, prospective study, special situation for pharmacovigilance, therapy
Cruz-Montecinos C., Landro M.E., Cambiaggi G., Caviglia H., Daffunchio C.
[Article in Press] [In Process] Haemophilia 2023 :
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Abstract
Introduction: The impact of joint damage on functional capacity in patients with mild haemophilia (PwMH) has yet to be well studied. The primary aim of this study was to investigate the effect of joint impairment on the functional capacity of the lower limb in PwMH. The secondary aim was to identify physical predictors of lower limb functional capacity. Method: Forty-nine PwMH were evaluated. Dynamic balance was assessed using Time Up and Go (TUG). Thirty-second sit-to-stand (30-STS) and 60-second-STS (60-STS) were used to assess muscle power and endurance, respectively. Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) was used to assess joint damage. PwMH were divided based on HEAD-US: with joint damage (≥3 points) and without or with very low joint damage (0–2 points). Univariate ANOVA and multiple regression analyses were performed to identify differences in functional capacity and potential physical predictors. Results: Only 30-STS showed significant differences between groups (p =.002). TUG and 60-STS were primarily explained by age (r2 =.21 and r2 =.44, respectively), while for 30-STS, age combined with joint damage and pain level explains 54% of the variance. Conclusion: Our findings indicate that the 30-STS is useful for assessing functional deterioration in people with early-stage haemophilia-related arthropathy. Our results also indicate that joint damage, combined with ageing and pain, may impact 30-STS outcomes in PwMH. Furthermore, our findings show that the loss in TUG and 60-STS performance in PwMH is related to ageing.
Non-drug Index Terms
adult, aging, analysis of variance, arthropathy, article, controlled study, deterioration, endurance, female, functional status, hemophilia, hemophilic arthropathy, human, joint destruction, lower limb, major clinical study, male, motor dysfunction, multiple regression, muscle function, muscle strength, outcome assessment, pain, skeletal muscle, timed up and go test, ultrasound
Bomfim S.O., Sacramento G.S., Sousa C.L., Vivas de Almeida A.L., de Almeida J.B.
[In Process] Foren. Sci. Internat. Rep. 2023 8:
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Abstract
Forensic investigation aims to identify, clarify and analyze evidence from a crime scene in order to assist law enforcement agencies. In this regard, both forensic hematology and forensic traumatology are responsible for interpreting the material evidence related to the crime and its nature. One of the biggest challenges in recognizing hemorrhagic diseases at crime scenes is the limited visibility of these diseases in forensic investigations, as well as the scarcity of resources for identification. In light of this context, this study aimed to describe a case of forensic investigation, whose victim had a cut-contusion injury in the head and significant blood loss. Analysis of the evidence demonstrated that the injury was caused by a fall from the victim's own height, hitting the head on the base of the gate rail at their residence. The forensic investigation of blood stain patterns revealed a predominant presence of blood stains caused by accumulation and it was discovered that the victim had a severe form of hemophilia, whose main characteristic is hemorrhage. After the fall, the victim died due to significant blood loss disproportionate to the injury suffered. The presentation of this report aims to provide elements of forensic hematology, which is not widely disseminated in the specialized literature, in order to assist professionals in dealing with similar patterns.
Non-drug Index Terms
article, bleeding tendency, blood clotting disorder, blood stain, case report, clinical article, contusion, crime, criminalistics, forensic medicine, head injury, hematology, hemophilia, hemophilia A, heredity, human, traumatology, victim
Magnetic resonance imaging evaluation of the disc morphology of temporomandibular joint in patients with severe hemophilia
de Oliveira L.A.P., Gomes J.P.P., Pimentel-Silva L.R., de Castro Lopes S.L.P., Correa M.E.P., de Oliveira Lira A., Costa A.L.F.
Oral Radiol. 2023 39:4 (759-765)
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Abstract
Objectives: This study aimed to assess the morphological differences in the articular disc (AD) between hemophilic patients and healthy individuals of the control group for further association with signs and symptoms. Methods: Fourteen severe hemophilic patients had their AD evaluated by magnetic resonance imaging (MRI). The morphological findings were compared to those of a control group consisting of 14 healthy individuals. MRI was used to evaluate all the components of the temporomandibular (TMJ), including the AD, resulting in sequential T1-weighted parasagittal images. All the images were acquired with teeth in maximum intercuspation position. Results: Morphological alterations showed significant statistical differences (P-value = 0.0068), whereas no statistical differences were found in the other variables, including TMJ pain, headache, bruxism and mouth opening limitation. In the group of non-hemophilic individuals, only two (14.29%) presented AD with non-biconcave features, whereas in the group of hemophilic patients, nine (64.29%) presented AD with a morphology other than biconcave. Conclusions: In patients with severe hemophilia, there seems to be a pattern of morphological alterations in the articular disc over time. The standard biconcave morphology of AD tends to change into other ones, particularly biplanar, hemiconvex and folded.
Non-drug Index Terms
(Based on full text)
Achieva-Intera, adult, article, bruxism, clinical article, clinical feature, comparative study, controlled study, diagnostic imaging, disease severity, headache, hemarthrosis, hemophilia, human, imaging software, Inspiron 500, male, morphological trait, morphology, mouth, MRI scanner, nuclear magnetic resonance imaging, temporomandibular joint, temporomandibular joint disorder
Clinical course and prognosis of patients with hepatocellular carcinoma and haemophilia
Matsuda N., Imai N., Yokoyama S., Yamamoto K., Ito T., Ishizu Y., Honda T., Okamoto S., Kanematsu T., Suzuki N., Matsushita T., Ishigami M., Kawashima H.
Eur J Gastroenterol Hepatol 2023 35:10 (1211-1215)
MEDLINE
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Abstract
INTRODUCTION: Although patients with haemophilia are known to develop hepatocellular carcinoma (HCC) at a lower age than patients without, there are few reports on the clinical course and prognosis of HCC. AIM: We aimed to investigate the clinical course and prognosis of patients with HCC and haemophilia. METHODS: Twenty-two patients with haemophilia, who were initially diagnosed with HCC between 2003 and 2021, were included. Their clinical courses and prognoses were retrospectively analysed. The results were compared with those of the 24th Nationwide Follow-up Survey of Primary Liver Cancer. RESULTS: All 22 patients were male; of these, 20 patients had haemophilia A, and 2 had haemophilia B. The mean age of diagnosis was 63 years (range 45-78 years) which is lower than the mean of 72 years reported in the Nationwide Survey. The mean diameter of the largest tumour was 30 mm (range 11-70 mm), and 18 tumours (82%) were solitary at the initial diagnosis. Standard treatments for HCC were performed in all patients. Sixty-one transarterial chemoembolisation, 28 RFA, 10 hepatectomies, and 2 radiation treatments were performed, and molecular-targeted agents were administered to 5 patients during their clinical courses. No deaths were associated with complications of HCC treatments. The median survival time after initial treatment was 6.4 years (range 0.9-18.7 years) which did not differ much from the median survival time of 5.8 years in the Nationwide Survey. CONCLUSION: Standard treatment for HCC could improve the prognosis of patients with HCC and haemophilia.
Non-drug Index Terms
(Based on full text)
aged, chemoembolization, complication, disease exacerbation, female, hemophilia A (diagnosis, therapy), human, liver cell carcinoma (diagnosis, therapy), liver tumor (diagnosis, therapy), male, middle aged, procedures, prognosis, retrospective study, treatment outcome
Pre-operative synovial hyperaemia in haemophilia patients undergoing total knee replacement and the effects of genicular artery embolization: A retrospective cohort study
Foppen W., van der Schaaf I.C., van Leeuwen F.H.P., Verlind D.H., van Vulpen L.F.D., Vogely H.C., Barentsz M.W.
Haemophilia 2023 29:5 (1351-1358)
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Abstract
Aim: Haemophilia is characterized by recurrent joint bleeding caused by a lack of clotting factor VIII or IX. Due to repeated joint bleeding, end-stage arthropathy occurs in relatively young patients. A total knee replacement (TKR) can be a solution. However, TKR may be complicated by perioperative and postoperative bleeds despite clotting factor therapy. The aim of this study was to evaluate the prevalence of pre-operative synovial hyperaemia and the effects of Genicular Artery Embolization on synovial hyperaemia and 3-month postoperative joint bleeding. Methods: In this retrospective cohort study, all patients with haemophilia who underwent periarticular catheter angiography between 2009 and 2020 were evaluated after written informed consent. Synovial hyperaemia on angiography was scored by an interventional radiologist. Results: Thirty-three angiography procedures in 24 patients were evaluated. Median age was 54.4 years (IQR 48.4–65.9). Preoperative synovial hyperaemia was observed in 21/33 joints (64%). Moderate and severe synovial hyperaemia was observed in 10/33 joints (30%). Synovial hyperaemia decreased in 13/15 (87%) joints after embolization. Three-month postoperative joint bleeding occurred in 5/32 joints: in 2/18 joints (11%) without synovial hyperaemia and in 3/14 joints (21%) with mild synovial hypertrophy. Non-embolized and embolized joints did not differ regarding 3-month postoperative bleeding (P =.425). No complications were observed after embolization. Conclusion: One-third of patients with haemophilia requiring a TKR had moderate or severe synovial hyperaemia which can be reduced safely by Genicular Artery Embolization prior to TKR. Three-month postoperative bleeding appears to occur independently of the presence of residual mild synovial hyperaemia.
Drug Index Terms
(Based on full text)
blood clotting factor 8 (drug therapy, special situation for pharmacovigilance), blood clotting factor 9 (drug therapy, special situation for pharmacovigilance)
Non-drug Index Terms
(Based on full text)
adult, age distribution, aged, arterial embolization, article, bolus injection, clinical article, cohort analysis, continuous infusion, Contour, controlled study, conventional angiography, disease severity, embolic particle, genicular artery embolization, hemarthrosis (complication), hemophilia A (drug therapy), hemophilia B (drug therapy), human, hyperemia (diagnosis, epidemiology, therapy), informed consent, interventional radiologist, knee disease (surgery), microcatheter, middle aged, postoperative hemorrhage (complication), preoperative period, prevalence, retrospective study, synovial hyperemia (diagnosis, epidemiology, therapy), total knee arthroplasty
Pharmacological Thromboprophylaxis in People with Hemophilia Experiencing Orthopedic Surgery: What Does the Literature Say in 2023?
Rodriguez-Merchan E.C.
[In Process] J. Clin. Med. 2023 12:17
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Abstract
This narrative review of the literature, consisting of papers found in PubMed and The Cochrane Library published up to 31 July 2023, analyzed those that were deemed to be closely related to the title of this paper. It was encountered that the peril of deep vein thrombosis (DVT) in people with hemophilia (PWH) after orthopedic surgery is very small, such that pharmacological thromboprophylaxis is not necessary in most cases. The hemophilia literature states that the use of pharmacological thromboprophylaxis should only be performed in PWH undergoing major orthopedic surgery (total-knee arthroplasty, total-hip arthroplasty, ankle arthrodesis) who have additional venous thromboembolism (VTE) risk factors, such as old age, prior VTE, varicose veins, general anesthesia, cancer, factor V (Leiden) mutation, overweight, and treatment with the oral contraceptive pill (in females with von Willebrand’s illness). If we notice various risk factors for VTE in PWH who experience orthopedic surgery, theoretically, we should perform the identical type of pharmacological thromboprophylaxis advised for non-hemophilia patients: low-molecular weight heparins (LMWHs), such as enoxaparin (40 mg subcutaneous/24 h); or direct oral anticoagulants (DOACs), either thrombin inhibitors (dabigatran, 150 mg oral/12 h) or activated factor X (FXa) inhibitors (rivaroxaban, 20 mg oral/24 h; apixaban, 5 mg oral/24 h), or subcutaneous fondaparinux (2.5 mg/24 h subcutaneously). However, the review of the literature on hemophiliac patients has shown that only a few authors have used pharmacological prophylaxis with LMWH (subcutaneous enoxaparin) for a short period of time (10–14 days) in some patients who had risk factors for VTE. Only one group of authors used a low dose of DOAC in the dusk after the surgical procedure and the next day, specifically in individuals at elevated risk of VTE and elevated risk of bleeding after the surgical procedure.
Drug Index Terms
anticoagulant agent, apixaban, blood clotting factor 10, blood clotting factor 5 Leiden, dabigatran, endogenous compound, enoxaparin, fondaparinux, low molecular weight heparin, oral contraceptive agent, rivaroxaban, thrombin inhibitor
Non-drug Index Terms
adult, ankle arthrodesis, bleeding, cancer patient, cancer surgery, Cochrane Library, deep vein thrombosis, drug therapy, female, gene mutation, general anesthesia, hemophilia, human, low drug dose, malignant neoplasm, Medline, narrative, obesity, orthopedic surgery, review, risk factor, surgery, surgical technique, thrombosis prevention, total hip replacement, total knee arthroplasty, varicosis, venous thromboembolism
Management of abdominal pseudotumours in haemophilia: a systematic review
von Stauffenberg F., Hegemann I., Schwotzer R., Lehmann K., Widmer J.
Swiss Med. Wkly 2023 153:8
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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)
abdominal pseudotumor (complication, surgery, therapy), adolescent, adult, aged, artificial embolization, bridging therapy, child, clinical article, conservative treatment, controlled study, gastrointestinal hemorrhage (complication), hemophilia, human, male, mortality rate, pseudotumor (complication, surgery, therapy), review, school child, systematic review (topic), treatment failure, treatment indication, treatment response
To find the correlation of the clinical findings with the hematological findings in patients with bleeding manifestations.
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
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
Bladen M., Harbidge H., Drechsler W., Duport G., Mahaffey R., van der Net J., Pérez-Alenda S., Sayers F., Strike K., Timmer M., Stephensen D.
Haemophilia 2023 29:6 (1611-1620)
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Abstract
Introduction: Recent recommendations of core outcome sets for haemophilia highlight the need for including measures of performance-based physical health and physical function sustainability. To date, there is no consensus on what outcomes might be of value to clinicians and patients. Aim: To identify instruments of performance-based physical function to monitor musculoskeletal health in people with haemophilia that are practical in the clinical setting. Methods: Utilising components from the Activities and Participation Category of the WHO International Classification of Functioning (WHO-ICF), a consensus-based, decision analysis approach was used to: identify activities people with haemophilia have most difficulty performing; identify quantitative performance-based measures of identified activities via a scoping review; and obtain views on acceptability of the tests utilising a DELPHI approach. Results: Eleven activities were identified: maintaining a standing position, walking long distances, walking up and down stairs, walking on different surfaces, running, hopping, jumping, squatting, kneeling, undertaking a complex lower limb task, undertaking a complex upper limb task. Following a 2-round DELPHI survey of international physiotherapists, the 6-min walk test, timed up and down stairs, 30-s sit to stand, single leg stance, tandem stance, single hop for distance (children only) and timed up and go (adults only) reached consensus. Conclusion: This study is the first step in defining a core set of performance-based instruments to monitor physical health and sustainability of physical function outcomes in people with haemophilia. Establishing the psychometric properties of the instruments and whether they are meaningful to people with haemophilia is essential.
Non-drug Index Terms
(Based on full text)
adolescent, adult, aged, article, child, decision making, Delphi study, functional assessment, functional status, health care utilization, hemophilia, hopping, human, International Classification of Functioning, Disability and Health, jumping, kneeling, lower limb, major clinical study, musculoskeletal function, outcome assessment, patient monitoring, performance based functional assessment, physical activity, physical activity, capacity and performance, physical performance, physical well-being, physiotherapist, program acceptability, psychometry, quantitative analysis, running, sit-to-stand test, six minute walk test, squatting (position), stair climbing, staircase test, stance time, standing, task performance, timed up and go test, upper limb, walking distance, World Health Organization
Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report
Al khudari R., Batesh D., Habash R., Hamdn O.
[In Process] J. Med. Case Rep. 2023 17:1
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Abstract
Background: Hemophilia is an X-linked, recessive inherited disease caused by a defect or deficiency of one of the coagulation factors (VIII or IX). It is considered a rare disease in females. One of the reasons that hemophilia affects females is Turner syndrome. Hemophilia with Turner syndrome is a very rare case, but the combination of Turner syndrome, hemophilia, and factor V deficiency is an isolated case that has never been recorded in the medical literature. Case presentation: In our case, a 5-year-old Syrian girl presented with hemorrhage of gum, epistaxis, and short stature. The lab tests showed: prolonged activated partial thromboplastin time and prothrombin time with deficiency of factor V (1%) and factor VIII (1%). We diagnosed hemophilia A with factor V deficiency. In addition to short stature, the patient was noted to have spaced nipples and winged neck. We performed karyotyping that showed deletion of one X chromosome (45X0), Turner syndrome. There is no family history of hemophilia or any other genetic disease. Conclusions: In females affected with hemophilia, karyotyping should be performed. It is very important not to exclude the possibility of a combination of deficiency of more than one clotting factor, and to note that deficiency of more than one factor does not necessarily increase the severity of bleeding compared with deficiency of a single factor.
Drug Index Terms
blood clotting factor 5, blood clotting factor 8
Non-drug Index Terms
activated partial thromboplastin time, article, blood clotting factor 5 deficiency, case report, child, clinical article, congenital disorder, diagnosis, drug therapy, epistaxis, family history, female, hemophilia, hemophilia A, human, karyotyping, laboratory test, nipple, preschool child, prothrombin time, school child, short stature, special situation for pharmacovigilance, therapy, Turner syndrome, X chromosome
Sharathkumar A., Wendt L., Ortman C., Srinivasan R., Chute C.G., Chrischilles E., Takemoto C.M., Wilcox A.B., Lee A.M., Graves A., Anzalone A.J., Manna A., Saha A., Olex A., Zhou A., Williams A.E., Southerland A., Girvin A.T., Walden A., Sharathkumar A.A., Amor B., Bates B., Hendricks B., Patel B., Alexander C., Bramante C., Ward-Caviness C., Madlock-Brown C., Suver C., Chute C., Dillon C., Wu C., Schmitt C., Takemoto C., Housman D., Gabriel D., Eichmann D.A., Mazzotti D., Brown D., Boudreau E., Hill E., Zampino E., Marti E.C., Pfaff E.R., French E., Koraishy F.M., Mariona F., Prior F., Sokos G., Martin G., Lehmann H., Spratt H., Mehta H., Liu H., Sidky H., Hayanga J.W.A., Pincavitch J., Clark J., Harper J.R., Islam J., Ge J., Gagnier J., Saltz J.H., Saltz J., Loomba J., Buse J., Mathew J., Rutter J.L., McMurry J.A., Guinney J., Starren J., Crowley K., Bradwell K.R., Walters K.M., Wilkins K., Gersing K.R., Cato K.D., Murray K., Kostka K., Northington L., Pyles L.A., Misquitta L., Cottrell L., Portilla L., Deacy M., Bissell M.M., Clark M., Emmett M., Saltz M.M., Palchuk M.B., Haendel M.A., Adams M., Temple-O'Connor M., Kurilla M.G., Morris M., Qureshi N., Safdar N., Garbarini N., Sharafeldin N., Sadan O., Francis P.A., Burgoon P.W., Robinson P., Payne P.R.O., Fuentes R., Jawa R., Erwin-Cohen R., Patel R., Moffitt R.A., Zhu R.L., Kamaleswaran R., Hurley R., Miller R.T., Pyarajan S., Michael S.G., Bozzette S., Mallipattu S., Vedula S., Chapman S., O'Neil S.T., Setoguchi S., Hong S.S., Johnson S., Bennett T.D., Callahan T., Topaloglu U., Sheikh U., Gordon V., Subbian V., Kibbe W.A., Hernandez W., Beasley W., Cooper W., Hillegass W., Zhang X.T.
[Article in Press] J. Thromb. Haemost. 2023 :
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Abstract
Background: Hypercoagulable state contributing to thrombotic complications worsens COVID-19 severity and outcomes, whereas anticoagulation improves outcomes by alleviating hypercoagulability. Objectives: To examine whether hemophilia, an inherent hypocoagulable condition, offers protection against COVID-19 severity and reduces venous thromboembolism (VTE) risk in persons with hemophilia (PwH). Methods: A 1:3 propensity score–matched retrospective cohort study used national COVID-19 registry data (January 2020 through January 2022) to compare outcomes between 300 male PwH and 900 matched controls without hemophilia. Results: Analyses of PwH demonstrated that known risk factors (older age, heart failure, hypertension, cancer/malignancy, dementia, and renal and liver disease) contributed to severe COVID-19 and/or 30-day all-cause mortality. Non–central nervous system bleeding was an additional risk factor for poor outcomes in PwH. Odds of developing VTE with COVID-19 in PwH were associated with pre-COVID VTE diagnosis (odds ratio [OR], 51.9; 95% CI, 12.8-266; p < .001), anticoagulation therapy (OR, 12.7; 95% CI, 3.01-48.6; p < .001), and pulmonary disease (OR, 16.1; 95% CI, 10.4-25.4; p < .001). Thirty-day all-cause mortality (OR, 1.27; 95% CI, 0.75-2.11; p = .3) and VTE events (OR, 1.32; 95% CI, 0.64-2.73; p = .4) were not significantly different between the matched cohorts; however, hospitalizations (OR, 1.58; 95% CI, 1.20-2.10; p = .001) and non–central nervous system bleeding events (OR, 4.78; 95% CI, 2.98-7.48; p < .001) were increased in PwH. In multivariate analyses, hemophilia did not reduce adverse outcomes (OR, 1.32; 95% CI, 0.74-2.31; p = .2) or VTE (OR, 1.14; 95% CI, 0.44-2.67; p = .8) but increased bleeding risk (OR, 4.70; 95% CI, 2.98-7.48; p < .001). Conclusion: After adjusting for patient characteristics/comorbidities, hemophilia increased bleeding risk with COVID-19 but did not protect against severe disease and VTE.
Non-drug Index Terms
adverse outcome, age, all cause mortality, anticoagulant therapy, anticoagulation, article, bleeding, case fatality rate, cohort analysis, comorbidity, complication, controlled study, coronavirus disease 2019, dementia, drug therapy, female, heart failure, hemophilia, hemostasis, hospitalization, human, hypertension, liver disease, lung disease, major clinical study, male, mortality, propensity score, retrospective study, risk factor, special situation for pharmacovigilance, thrombophilia, United States, venous thromboembolism
Occupational therapy in the management of haemophilia patients: A scoping review
Seoane-Martín M.E., Cuesta-Barriuso R., Rodríguez-Martínez M.C.
[Article in Press] [In Process] Haemophilia 2023 :
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Abstract
Background: Haemophilia is a haematological disease, although most haemorrhages occur in the locomotor system. Patients are physically disabled from an early age and have a poorer perception of quality of life. In the day-to-day lives of patients and their families, psychosocial well-being, the disease's physical, personal, and social impact, as well as work-related problems are the most complicated aspects of the disease that need to be addressed. Objective: To identify the role of occupational therapy in managing patients with haemophilia and to analyse the therapeutic potential of occupational therapy in treating these patients. Methods: A scoping review was conducted to identify the role of occupational therapy in managing patients with haemophilia and to analyse the therapeutic potential of occupational therapy in treating these patients. The review was registered in the international registry PROSPERO (Id: CRD42022319637). The databases consulted were SCOPUS, PubMed, PsycINFO, Web of Science and Science Direct, including all studies published until 14 August 2023. Results: No single study was found that specifically developed an occupational therapy intervention for patients with haemophilia. Measurement instruments have been identified, specific for patients with haemophilia and generic, that can be useful for the functional evaluation of these patients in the occupational therapy approach. Different studies showed the importance of multidisciplinary treatment, including occupational therapy. Conclusions: The use of occupational therapy could be effective in improving autonomy and quality of life in haemophilia patients. Therefore, it is of paramount importance to conduct research studies within the field of occupational therapy.
Non-drug Index Terms
bleeding, hematologic disease, hemophilia, hemophilia A, human, male, musculoskeletal system, occupational therapy, physical disability, quality of life, review, systematic review, therapy
Biernat M.M., Jędrzejuk D., Urbaniak-Kujda D., Biernat P., Laszkowska-Lewko M., Landwójtowicz M., Majdak E., Podolak-Dawidziak M., Wróbel T.
[Article in Press] [In Process] Haemophilia 2023 :
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Abstract
Introduction: In people with haemophilia (PWH), recurrent episodes of bleeding lead to joint deterioration and bone resorption. To date, the effects of various other factors on bone mineral density (BMD) reduction have found conflicting results. Aim: The aim of this study was to analyse the relationships between BMD, bone mineral content (BMC), and trabecular bone score (TBS) parameters based on the dual X-ray absorptiometry method (DXA) and potential risk factors for osteoporosis in patients with severe haemophilia A. Methods: Fifty-five men with severe haemophilia A, aged 18–68 years, and 59 healthy volunteer men were enrolled in this study. Densitometric-derived lumbar spine and femoral neck BMD, BMC, and TBS were measured. Blood analyses were performed for morphology parameters, liver and kidney function parameters, and viral status. Serum levels of oestradiol (E2), testosterone (T), dehydroepiandrosterone sulphate (DHEA-S), parathormone, and vitamin D were measured. Results: Patients showed significantly lower BMD compared to controls (p <.003). The result below the expected range for age was nearly double (6.82% vs. 3.92%) in PWH under 50 years old compared to controls. Haemophilic patients also exhibited significantly higher vitamin D3 deficiency (p <.0001), which was strongly associated with low TBS. Additionally, low body mass index and high neutrophil/lymphocyte ratio were correlated with low BMC and BMD. Conclusions: This study confirms the prevalence of low BMD and BMC in patients with haemophilia in Poland. Factors that contribute to low BMD are primarily vitamin D deficiency, low BMI, high neutrophil/lymphocyte ratio, and low testosterone/oestradiol ratio.
Drug Index Terms
estradiol, parathyroid hormone, prasterone, prasterone sulfate, testosterone, vitamin D
Non-drug Index Terms
adult, age, aged, article, bleeding, blood analysis, body mass, bone density, bone mineral, case control study, controlled study, cross-sectional study, densitometry, drug therapy, dual energy X ray absorptiometry, femoral neck, hemophilia, hemophilia A, human, kidney function, lumbar spine, major clinical study, male, middle aged, neutrophil lymphocyte ratio, osteolysis, osteoporosis, Poland, prevalence, risk factor, trabecular bone, vitamin D deficiency
Kubeš R., Stollin M., Magersky Š., Bobelyak M., Vaculík J., Včelák J., Antonín Kuběna A., Loužil J., Salaj P.
[In Process] Expert Rev. Hematol. 2023 16:12 (1099-1105)
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Abstract
Background: Patients with hemophilia (PWH) develop hemophilic arthropathy of the major joints due to recurrent hemarthrosis. This study retrospectively estimated the age at which PWH may expect to develop hemophilic arthropathy and undergo joint replacement surgery. Research design and methods: Using retrospective data from PWH at a Czech orthopedic center, Kaplan Meier analyses were used to estimate the cumulative proportions of patients with hemophilic arthropathy and undergoing joint replacement surgery as a function of age. Results: Based on 1028 joint examinations in 167 PWH, hemophilic arthropathy of the knees, elbows, ankles and hips was estimated to develop by a median age of 48, 51, 52 and 61 years, respectively, with ≈80% of patients having such damage by ≈70 years of age. Hemophilic arthropathy of the shoulder occurred much later (median >80 years). In patients undergoing knee or hip replacement surgery, hemophilic arthropathy of the knee and hip occurred at a median age of ≈50 and ≈60 years, respectively, with replacement surgery occurring at a median of ≈70 and >75 years. Conclusions: In PWH, the risk of developing hemophilic arthropathy accumulates continuously over the patient’s lifetime, allowing predictions about the ages at which such damage and joint replacement surgery may occur.
Non-drug Index Terms
adolescent, adult, age, article, child, cohort analysis, complication, data base, drug therapy, endoprosthesis, female, hemarthrosis, hemophilia, hemophilic arthropathy, hip replacement, human, joint examination, major clinical study, male, pharmacology, prediction, retrospective study, surgery
Association of patient, treatment and disease characteristics with patient-reported outcomes: Results of the ECHO Registry
Hay C.R.M., Makris M., Shima M., Nagao A., Jiménez-Yuste V., Skinner M., Kessler C.M., von Mackensen S.
[Article in Press] [In Process] Haemophilia 2023 :
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Abstract
Introduction: Patient-reported outcomes (PROs) in people living with haemophilia A (PLWHA) are often under-reported. Investigating PROs from a single study with a diverse population of PLWHA is valuable, irrespective of FVIII product or regimen. Aim: To report available data from the Expanding Communications on Haemophilia A Outcomes (ECHO) registry investigating the associations of patient, treatment and disease characteristics with PROs and clinical outcomes in PLWHA. Methods: ECHO (NCT02396862), a prospective, multinational, observational registry, enrolled participants aged ≥16 years with moderate or severe haemophilia A using any product or treatment regimen. Data collection, including a variety of PRO questionnaires, was planned at baseline and annually for ≥2 years. Associations between PRO scores and patient, treatment and disease characteristics were determined by statistical analyses. Results: ECHO was terminated early owing to logistical constraints. Baseline data were available from 269 PLWHA from Europe, the United States and Japan. Most participants received prophylactic treatment (76.2%), with those using extended-half-life products (10.0%) reporting higher treatment satisfaction. Older age and body weight >30 kg/m2 (>BMI) were associated with poorer joint health. Older age was associated with poorer physical functioning and work productivity. Health-related quality of life and pain interference also deteriorated with age and >BMI; >BMI also increased pain severity scores. Conclusion: ECHO captured a variety of disease characteristics, treatment patterns, PROs and clinical outcomes obtained in real-world practice with ≤1 year's follow-up. Older age, poorer joint health and >BMI adversely affected multiple aspects of participant well-being.
Drug Index Terms
blood clotting factor 8
Non-drug Index Terms
adult, aged, article, body mass, body weight, clinical outcome, cohort analysis, drug therapy, Europe, female, follow up, hemophilia, hemophilia A, human, Japan, major clinical study, male, middle aged, observational study, pain, pain severity score, patient-reported outcome, quality of life, questionnaire, special situation for pharmacovigilance, therapy
Proposal of a development of a digital platform in the management of a rare disease: Acquired hemophilia A
Mattana M., Cammarata C., Ingrascì M.G., Tomasello R., Siragusa S., Napolitano M.
Blood Transfusion 2023 21: (s576)
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Abstract
Background. Acquired hemophilia A (AHA) is a rare bleeding disorder characterised by the production of autoantibodies directed against coagulation factor VIII, the incidence of which increases with age. The clinical impact of AHA is relevant because the severity of bleeding is impacted by a delayed diagnosis, resulting in often inadequate treatment and wasted resources. Approximately half of all patients with AHA suffer from concomitant trigger diseases, often autoimmune diseases or cancer. Available data on the management of relapsed/refractory acquired hemophilia A are rather limited. The project aims to create an integrated care network linking peripheral hospital structures, analysis laboratories and territorial pharmacies with the reference hemophilia center through the development of a digital platform allowing telematic management of the patient from AHA (suspected or confirmed) diagnosis to the following clinical follow-up. Methods. The project will develop remote interactions between clinicians and patients, remote consultation between doctors on the basis of their specific training and expertise, for a global assessment of the patient with a suspected AHA; the digital platform will allow the cooperation between several specialists, pharmacists, clinical pathologists, biologists and nurses. The digital platform will collect data, which could be accessed by the patient, the expert at the reference centre, doctors working in peripheral hospitals, peripheral laboratories and pharmacies. The platform will allow the patient to engage with AHA experts; in addition, interaction with laboratories will facilitate AHA diagnosis and treatment monitoring. The digital platform will optimize AHA management from diagnosis to follow-up. Results. Results from the telemedicine digital health system developed will then be sent to national and international conferences. Expected results will improve the well-being of patients, avoiding inappropriate interventions and offering an advantage to the National Health System (NHS) in the clinical management of patients with AHA. It will be relevant with reference to digital, economic and social transitions, as well as with Digital Healt and management process innovation. Given the rarity and complexity of AHA, the proposed pathway will favour the integration of medical-specific knowledge and skills with the growing technological innovation, in compliance with Law 240/2010, art 24 co.3 and ss.mm.ii, on the interchange between the productive world and the NHS. Conclusions. The proposed project will contribute to a reorganisation of the health care system for patients suffering from acquired hemophilia A, in particular by supporting the interactions between the reference centre for rare diseases and the territory, through an innovative model of patient-centered care that facilitates access to services throughout the country, avoiding diagnostic delays and treatment inadequacies. The success of this project could lead to adopt this platform for the management and treatment of other rare diseases.
Drug Index Terms
(Based on full text)
autoantibody, blood clotting factor 8
Non-drug Index Terms
(Based on full text)
adult, autoimmune disease, biologist, bleeding, bleeding disorder, cohort analysis, conference abstract, delayed diagnosis, diagnosis, follow up, health care system, hemophilia, hemophilia A, human, incidence, medical specialist, national health service, pathologist, patient care, pharmacist, rare disease, signal transduction, teleconsultation, telemedicine
Risk factors for atherosclerosis in patients with hemophilia
Ciavarella A., Tafuri F., Boggio F., Abbattista M., Arcudi S., Gualtierotti R., Mistretta C., Siboni S., Peyvandi F.
Blood Transfusion 2023 21: (s561-s562)
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Abstract
Background. Patients with hemophilia (PWH) have been thought to be protected from cardiovascular disease (CVD) because of their hypocoagulability. In view of the availability of new drugs that are improving the natural history of the bleeding disorder, their cardiovascular risk needs to be reconsidered. Data on cardiovascular risk factors in PWH remain poor. Aims. To evaluate the association between common cardiovascular risk factors and carotid atherosclerosis in PWH. Methods. We conducted a cross-sectional, case control study in a population of PWH A or B. Laboratory and clinical data regarding common cardiovascular risk factors were collected. Patients underwent both carotid ultrasound and echocardiography. Carotid atherosclerosis was defined by an IMT >1 mm or the presence of carotid plaques. Odds ratio adjusted for age with their 95% confidence intervals (CI) were calculated. Results. Fifty-eight PWH A or B (27 severe, 11 moderate and 20 mild) were included. Patients' characteristics are reported in Table 1. Ultrasound signs of atherosclerosis were found in 31 patients. Hypercholesterolemia (OR 3.1, 1.1-11.7 95% CI), hypertension (OR 2.3, 0.6-8.5 95% CI), and smoking (OR 4.1, 1.1-16.1 95% CI) resulted to be major risk factors for atherosclerosis, while we observed no association with obesity (0.9, 0.2-3.8 95% CI) and diabetes (1.3, 0.2-8.7 95% CI) (Table 2). In addition, we found no association between the degree of hemophilia and atherosclerosis. Patients with hypertension showed a higher prevalence of septal hypertrophy and diastolic dysfunction (69% and 71%, respectively) compared with those without hypertension (44% and 50%, respectively). Conclusions. Patients with any level of factor VIII do not seem protected from cardiovascular disease. Larger studies are warranted to understand the actual cardiovascular risk of PWH in the era of novel therapies.
Drug Index Terms
(Based on full text)
blood clotting factor 8
Non-drug Index Terms
(Based on full text)
adult, aged, atherosclerosis, bleeding disorder, cardiovascular disease, cardiovascular risk, carotid atherosclerosis, carotid atherosclerotic plaque, carotid ultrasound, case control study, clinical article, conference abstract, cross-sectional study, diabetes mellitus, diastolic dysfunction, drug therapy, echocardiography, female, hemophilia, human, hypercholesterolemia, hypertension, hypocoagulability, male, middle aged, obesity, prevalence, risk factor, smoking
Frequency of ultrasound (US) for joint evaluation in hemophilia: An interim analysis of the Montreal Study
Sella C., Valeri F., Dainese C., Bardetta M., Bruno B., Borchiellini A.
Blood Transfusion 2023 21: (s560-s561)
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Abstract
Background. In hemophilia optimization of joint outcomes is an important unmet need. Recently, a new emphasis is on early diagnosis and treatment of arthropathy beyond improving clotting factor replacement strategies. There is rising awareness that detection of asymptomatic findings are essential. HEADUS (Hemophilia early arthropaty detection) protocol was designed to detect joint damage before clinical manifestations. The aim of this study is to determine use of US in evaluating arthropathy in severe hemophilia A and B patients and to find any correlation between US score and HJHS (hemophilia joint health score), ABR (annualized bleeding rate) and NRS (Numeric pain Rating Scale) at baseline, after 6 months (T1) and 12 months (T2) of prophilaxis. We present results of an interim analysis. Methods. 19 severe hemophilia A/B patients were included. At each visit we evaluated HJHS and US. Joint pain (NRS), through level and prophylaxis efficacy whit ABR was performed. Results. Median age was 38yo (IQR1-3 33-50,5), 5 had hemohilia B and 14 had hemophilia A. 8 patients treated with extended half life (EHL) FVIII (median trough level 2%, IQR 1,7-4,1),5 patients with standard life FVIII (median trough level 1,72%, IQR 1,5-29 and all hemophilia B patients with EHL FIX (median trough level 10%, IQR 7,5-12,5). Median target joints was 2, without differences between hemophilia A and B. Median HEAD US, NRS, HJHS and ABR are shown in Table 1. As reported, no significant differences were found within the 2 timepoints. Univariate correlation analysis was performed and no significant correlations within variables was found; althought, a correlation coefficient >0,5 was observed between trough level and age (-0,572), trough level and ABR (-0,517), trough level and HEAD US (-0,515). Conclusions. US is a technology increasingly used to assess joint health in hemophilia, with no defined frequency of performing. Despite reduced sample size, our analysis suggests that 6 months evaluation after baseline may be too early to detect intrarticular changes. As a consequence, no correlation between HEAD US score and the others parameters evaluated in this work was found. This results are to be confirmed at T2. (Table Presented).
Non-drug Index Terms
(Based on full text)
arthralgia, arthropathy, bleeding, clinical article, conference abstract, diagnosis, drug therapy, hemophilia, hemophilia A, hemophilia B, human, numeric rating scale, ultrasound
Pardos-Gea J., Martin-Fernandez L., Closa L., Ferrero A., Marzo C., Rubio-Rivas M., Mitjavila F., González-Porras J.R., Bastida J.M., Mateo J., Carrasco M., Bernardo Á., Astigarraga I., Aguinaco R., Corrales I., Garcia-Martínez I., Vidal F.
[In Process] Int. J. Mol. Sci. 2023 24:22
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Abstract
Acquired hemophilia A (AHA) is a rare bleeding disorder caused by the presence of autoantibodies against factor VIII (FVIII). As with other autoimmune diseases, its etiology is complex and its genetic basis is unknown. The aim of this study was to identify the immunogenetic background that predisposes individuals to AHA. HLA and KIR gene clusters, as well as KLRK1, were sequenced using next-generation sequencing in 49 AHA patients. Associations between candidate genes involved in innate and adaptive immune responses and AHA were addressed by comparing the alleles, genotypes, haplotypes, and gene frequencies in the AHA cohort with those in the donors’ samples or Spanish population cohort. Two genes of the HLA cluster, as well as rs1049174 in KLRK1, which tags the natural killer (NK) cytotoxic activity haplotype, were found to be linked to AHA. Specifically, A*03:01 (p = 0.024; odds ratio (OR) = 0.26[0.06–0.85]) and DRB1*13:03 (p = 6.8 × 103, OR = 7.56[1.64–51.40]), as well as rs1049174 (p = 0.012), were significantly associated with AHA. In addition, two AHA patients were found to carry one copy each of the low-frequency allele DQB1*03:09 (nallele = 2, 2.04%), which was completely absent in the donors. To the best of our knowledge, this is the first time that the involvement of these specific alleles in the predisposition to AHA has been proposed. Further molecular and functional studies will be needed to unravel their specific contributions. We believe our findings expand the current knowledge on the genetic factors involved in susceptibility to AHA, which will contribute to improving the diagnosis and prognosis of AHA patients.
Drug Index Terms
autoantibody, blood clotting factor 8
Non-drug Index Terms
adaptive immunity, allele, article, bleeding disorder, cohort analysis, cytotoxicity, diagnosis, disease predisposition, drug therapy, female, gene, gene cluster, gene frequency, genetic predisposition, genotype, haplotype, hemophilia A, high throughput sequencing, human, immune system, immunogenetics, Spaniard, therapy
How good does ChatGPT answer frequently asked questions about haemophilia?
Van de Wyngaert C., Iarossi M., Hermans C.
Haemophilia 2023 29:6 (1646-1648)
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Non-drug Index Terms
