Für Sie Recherchiert 3/2022
Gaining more insight into ankle pain in haemophilia: A study exploring pain, structural and functional evaluation of the ankle joint
Roussel N.A., Chantrain V.-A., Foubert A., Lambert C., Hermans C., Meeus M., Guillaume S., Lecouvet F., Krüger S., Hilberg T., Lobet S.
Haemophilia 2022 28:3 (480-490)
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Abstract
Introduction: Ankle arthropathy is highly prevalent among people with haemophilia (PwH), even with prophylaxis, and leads to pain and disability. Mechanisms and consequences of painful symptoms related to ankle arthropathy have not been extensively studied. Methods: A consecutive sample of 30 adult PwH was included (60 ankles). Ankle structure was assessed with magnetic resonance imaging (IPSG-MRI) and ultrasound (HEAD-US). The HJHS 2.1 assessed function of ankles and knees. Physical functioning was assessed with the Timed Up and Go test, the 2-Minute Walking Test and activity limitations with the HAL questionnaire. Health-related quality of life was evaluated using the EQ-5D-5L questionnaire. Overall pain severity was examined using the Brief Pain Inventory questionnaire and ankle pain intensity with a visual analogue scale. Pressure pain thresholds with an algometer assessed pain sensitivity. Spearman correlations were used to calculate interrelations between joint structure, function and pain. Results: Twenty-five PwH (83%) reported ≥1 painful joint, with 67% reporting the ankle as most painful joint. MRI-confirmed abnormalities were seen in 76% of talocrural and 55% of subtalar joints. HEAD-US abnormalities were seen in 93% of the ankles. A large variation was seen in pain sensitivity at the ankle. While moderate to high correlations were observed between ankle structure and HJHS, no meaningful correlations were found between MRI-scores and pain intensity or sensitivity. Conclusions: Structural joint damage is present in many ankles but is not related to pain in PwH. Further studies should consider somatosensory nervous system dysfunction in PwH as contributing factor to painful ankle arthropathy.
Real-World Clinical Outcomes and Replacement Factor VIII Consumption in Patients with Haemophilia A in Italy: A Comparison between Prophylaxis Pre and Post Octocog Alfa (BAY 81-8973)
Cortesi P.A., Di Minno G., Zanon E., Giuffrida G., Santoro R.C., Marino R., D’angiolella L.S., Antonazzo I.C., Squassabia G., Clemente F., Di Laura D., Cimino E., Pasca S., Nicolosi D., Mantovani L.G.
[In Process] J. Clin. Med. 2022 11:12
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Abstract
(1) Background: new generations of rFVIII products offered the possibility to improve personalized therapeutic approaches, reducing the number of infusions or increasing the protection against bleeding risk. The aim of this study was to assess the effectiveness of prophylaxis with BAY 81-8973 (octocog alfa, Kovaltry®, Bayer Pharma AG) in the real-world setting and its impact on FVIII consumption compared to previous standard half-life treatments. (2) Methods: a retrospective observational study was conducted in five Italian Haemophilia Centers. Patients with haemophilia A under prophylactic treatment with BAY 81-8973 for at least one year, and previously on prophylaxis with a different product were included in the study. Annual bleeding rate (ABR) and annual FVIII consumption were compared. (3) Results: forty-four patients were included in the study. After switching to BAY 81-8973, ABR was significantly reduced (1.76 vs. 0.23; p = 0.015), the percentage of patients with zero bleeds increased from 54.6% to 84.1% (p = 0.003), and the overall FVIII consumption decreased by 25,542 (−7.2%, p = 0.046) IU per patient-year. Patients treated every 3 days or 2 times per week increased from 0% to 27.3%. (4) Conclusion: our results suggest that prophylaxis with BAY 81-8973 can improve clinical outcomes and reduce FVIII consumption, in the real-world practice, compared with the previous prophylaxis regimen with standard half-life products.
Predicting Individual Changes in Terminal Half-Life after Switching to Extended Half-Life Concentrates in Patients with Severe Hemophilia
Versloot O., Iserman E., Chelle P., Germini F., Edginton A.N., Schutgens R.E.G., Iorio A., Fischer K.
HemaSphere 2022 6:4 (E694)
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Abstract
Predicting individual effects of switching from standard half-life (SHL) to extended half-life (EHL) FVIII/FIX concentrates is pivotal in clinical care, but large-scale individual data are scarce. The aim of this study was to assess individual changes in terminal half-life (THL) after switching to EHL concentrates and identifying determinants of a clinically relevant THL extension in people with severe hemophilia. Data from participants with pharmacokinetic studies on both SHL and EHL were extracted from the Web-Accessible Population Pharmacokinetics Service (WAPPS) database and stratified according to hemophilia type and age groups (children/adults). A 30% increase in THL was considered clinically relevant. Predictors of a relevant increase were identified using logistic regression. Data from 688 persons with severe hemophilia (2174 infusions) were included: 89% hemophilia A; median age: 21.7 (interquartile range [IQR]: 11.5-37.7); positive inhibitor history: 11.7%. THL increased by 38% (IQR: 17%-67%) and 212% (139%-367%) for hemophilia A and B, respectively. All EHL-FIX concentrate users showed clinically relevant THL extension. However, 40% (242/612) of people with hemophilia A showed limited extension or decrease in THL after switching. Relevant FVIII-THL extension was predicted by short baseline THL and blood group non-O in both children and adults. In conclusion, clinically relevant THL extension was observed in all 75/76 participants switching to EHL-FIX, and in 60% of 612 switching to EHL-FVIII. Short THL on SHL-FVIII and blood group non-O were identified as predictors for a relevant THL increase after switching to EHL-FVIII. Individualized pharmacokinetic assessment may guide clinical decision-making when switching from SHL to EHL-FVIII.
Patient-derived assessment tool using musculoskeletal ultrasound for validation of haemarthrosis
Gopal S., Barnes R.F.W., Volland L.M., Page D., von Drygalski A.
[Article in Press] [In Process] Haemophilia 2022
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Abstract
Introduction: Haemophilia patients experience painful joint episodes which may or may not be associated with haemarthrosis. We sought to validate a questionnaire developed by the Canadian Haemophilia Society using point-of-care musculoskeletal ultrasound (POC MSKUS) to confirm haemarthrosis. Methods: The questionnaire comprised of 20 questions (10 each associated with haemarthrosis and arthritis pain) and was administered to adult haemophilia patients reporting to the Haemophilia Treatment Centre (University of California San Diego). We confirmed the presence (or absence) of haemarthrosis using POC MSKUS [Joint Activity and Damage Exam (JADE)]. We fitted univariate and multivariate generalized estimating equations to identify symptoms associated with haemarthrosis. Results: We evaluated 79 painful episodes in 32 patients [median age = 38 years (range 21–74)]. POC MSKUS detected haemarthrosis in 36 (46%) episodes. The strongest predictor for haemarthrosis pain was ‘like a balloon swelling with water’ (odds ratio [OR] 2.88 [CI.68;12.10]); ‘no feeling of sponginess with movement’ (OR.24[CI.07;.76]) was the strongest for arthritic pain. We identified four questions with the strongest OR for differentiating haemarthrosis pain from arthritic pain to develop an algorithm for haemarthrosis prediction. Answering these questions in “yes/no” fashion yielded estimates of the probability of haemarthrosis. Conclusion: Objective diagnosis of haemarthrosis by MSKUS facilitated the development of a symptom-based prediction tool for diagnosis of haemarthrosis. The tool requires further validation and will be particularly helpful in situations where MSKUS is not readily available.
Optimising prophylaxis in haemophilia A: The ups and downs of treatment
Berntorp E., Hermans C., Solms A., Poulsen L., Mancuso M.E.
Blood Rev. 2021 50
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Abstract
The classical goals of haemophilia A treatment are to prevent bleeds, minimise the risk of long-term complications associated with joint damage, and improve quality of life by maintaining appropriate factor VIII [FVIII] levels. The dose and frequency of FVIII replacement therapies required to reduce bleeds is now known to vary amongst individuals, and may change for the same individual over time, meaning that a standardised dose and regimen may not provide optimal protection to all patients. Here we review the evolving treatment landscape for haemophilia A, and discuss how an increased understanding of the pharmacology and pharmacokinetics underlying FVIII replacement and non-factor replacement therapies could improve patient outcomes. We also review the strengths and weaknesses of current treatments and explore the benefits of personalised therapy and review how this may best be achieved with current treatment options. The key points of our review are summarised in the accompanying short video.
Changes of static and dynamic spine alignment in patients with severe haemophilia
Hmida J., Hilberg T., Krüger S., Jansen T.R., Goldmann G., Oldenburg J., Wirtz D.C., Strauss A.C.
Haemophilia 2021 27:6 (e721-e729)
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Abstract
Introduction: Haemophilic arthropathy results in a restricted range of motion and pain that often affects gait. The effect of these gait changes on spinal posture has not been studied. Aim: To evaluate whether the altered joint situation in patients with haemophilia (PwH) leads to compensatory mechanisms evident in the trunk and spine, considering static and dynamic conditions. Methods: PwH and healthy controls (20–65 years) were examined using rasterstereography in a controlled cohort study. Analysis was performed in static and dynamic conditions in regard to gait phases. Joint status was determined using the Haemophilia Joint Health Score (HJHS). Results: Static measurements showed no group differences in PwH (n = 40) compared to healthy controls (n = 40) except pelvic torsion (median [25%-quartile;75%-quartile]: -1.9[-3.2;.9]° vs.5[-1.1;1.9]°; P =.007). In contrast, under dynamic conditions PwH showed significantly higher trunk inclination and lower apex lumbar lordosis in all gait phases. Additionally, pelvic torsion was increased in mid stance and terminal swing. Considering joint status, PwH had a higher global HJHS (23.5[13.0;30.0] vs. 3.0[1.0;5.0]; P<.001). A significant moderate correlation was shown between the HJHS mobility score and spine parameters (r =.228–.588; P<.05). Conclusion: Degenerative joint changes in PwH lead to altered spine posture during gait. A reason could be the reduced mobility in the affected joint. Changes in spinal and pelvic posture lead to higher structural burdens; therefore, clinicians should focus on posture of spinal column during gait in daily treatment.
Newly diagnosed children and adolescents with haemophilia A and B in Germany - the GEPHARD study of the 'Standing Commission Paediatrics of the Society for Thrombosis and Haemostasis Research
Bidlingmaier C., Turknetz M., Escuriola Ettingshausen C., Kentouch K., Olivieri M., Eberl W., Zieger B., Kurnik K., Konigs C.
Hamostaseologie 2021 41:SUPPL 1 (S50)
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Abstract
Objective In Germany, 40-60 newborns are expected to be diagnosed with haemophilia per year. Haemophilia leads to recurrent bleeds and increased morbidity and mortality. Prophylaxis is the standard of care to prevent bleeds and sequela. The optimal timing or regimen to start prophylaxis to avoid the development of joint disease or neutralizing antibodies to clotting factors are still being discussed. Except for the German haemophilia registry documenting a limited set of data, no national data are available on incidence, treatment, clinical course or outcome of newly diagnosed haemophilias in Germany. Material and Methods The German Paediatric Haemophilia Research Database (GEPHARD) enrols children and adolescents (<18 years) that have been diagnosed with haemophilia (FVIII or FIX levels <25%) since January 2017. This prospective registry is open to all centres and documents variables related to diagnosis, therapy and outcome including but not limited to inhibitor development, offers quality assurance and serves as a base for future studies. GEPHARD works closely together with the German Haemophilia registry and PedNet. Results The database has been established and longitudinal documentation has been started. Funding from most companies offering FVIII or FIX products in Germany has been secured for initial five years. Since January 1st 2017 216 children and adolescents have been enrolled from 36 participating centres. For those children and adolescents with information available, 178 children were diagnosed with haemophilia A including 106, 18 and 54 with a severe, moderate or mild phenotype, respectively. Thirty children were diagnosed with haemophilia B including 17, 7 and 6 with a severe, moderate or mild phenotype, respectively. The median age of diagnosis for severe (n = 106), moderate (n = 18) or mild (n = 54) haemophilia A was 0.42, 0.04 and 1.75 years. For haemophilia B, the median age of diagnosis was 0.17, 2.75 and 3.21 for severe (n = 17), moderate (n = 7) and mild (n = 6). Since 2017, inbetween 58 and 66 patient have been recruited every year. Conclusion The GEPHARD community has included 216 children from January 2017 to June 2020. Following administrative issues which have been solved, the current pandemic poses a further burden on a central and longitudinal documentation. Nevertheless, longitudinal documentation has been started and will provide additional data in the near future.
Acquired Hemophilia A (AHA) Limits of the Awareness Push in Germany
Wahler S., Tiede A.
Hamostaseologie 2021 41:SUPPL 1 (S10)
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Abstract
Objective Acquired hemophilia A (AHA) is an extremely rare, but potentially life-threatening bleeding disorder caused by autoantibodies against human coagulation factor VIII. AHA may lead to spontaneous or trauma induced bleeds, treated with bypassing agents. New and successful therapies had been launched in the last decade. Several manufacturers drove awareness campaigns in Germany to push detection of potential patients. Here we examine the change in frequency of AHA in-hospital coding, based German DRG-data. Material and Methods Reports from German DRG-Institute (InEK), Statistical Office (DESTATIS) and German hospital quality reports 2010-2018 were analyzed for AHA. Analysis with Microsoft-Access 2019. Results Cases with a main and secondary diagnosis of AHA (D68.31, ICD10-GM) increased from 215 (2010) to 633 (2015) and stay stable around 500 annually ever since (+132%). Main diagnosis rose from 29 (2010) to 142 (2015) and remains ever since between 139 and 144 (+396%). Gender distribution (58.9% male) remained stable over time, extremes 2010: 54.4% male and 2016: 61.3% male. The average length of hospitalization decreased slightly from 22.3 days (2010) to 19.2 days (2018; -14%). All age groups between age of 60 and 90 had average lengths of stay between 20 and 24 days. Average age of patients was constantly around 70 years (2018: 69.3), the median age increased from 73 (2014) to 77 (2018). Analysis of living place of patients revealed a higher hospitalization rate in states with higher rate of hemophilia centers. Analysis of 2018 data revealed: 39% of cases were treated in comprehensive care centers (CCC), 34% in other hemostaseologic centers and 26% in non-centers. 86% treatments in departments of internal medicine, 9% surgery and 5 % ICU only. All cases in 2018 were treated in 51 hospitals. 56% cases in university hospitals, 31% major hospitals and 13 % rural hospitals. Conclusion We observed a steep increase in documented hospital cases with AHA between 2010 and 2015, thereafter the annual figures remain very constant. It may be concluded that the various awareness campaigns worked, but that a steady level was reached in 2015. The stable age, gender, and length of stay distribution support the assumption that more cases of AHA had been detected. National registration of AHA might deepen the insights.
Pain status in patients with hemophilia: evaluation of routine pain assessment in an unselected cohort of patients with hemophilia A and B
Holstein K., Veltrup K., Tetzlaff M., Schröder G., Von Mackensen S., Langer F.
Hamostaseologie 2021 41:SUPPL 1 (S10)
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Abstract
Objective Pain is a common co-morbidity in patients with hemophilia (PWH). Most data on prevalence of pain is generated by patient surveys with potential selection bias or within clinical studies. Therefore, we aimed to analyze prevalence of pain in an unselected cohort of PWH visiting a single German hemophilia center for routine annual check-ups during the previous 4 years. Material and Methods Assessment of pain intensity (numeric rating scale, NRS, 0 [no pain] to 10 [worst imaginable pain]) and location over the previous 3 months was carried out with an ad-hoc questionnaire. Pain interference was rated on a scale from 0 to 10 with higher values indicating more interference. Impact on mood was reported as none, moderate or severe. Demographic and clinical data were extracted from patient charts. Results 186 male adult PWH A or B visited the center, of whom 165 (88%) had a routine annual check-up and 161 (98%) completed at least 1 questionnaire (94%, 81%, 71% of all PWH with severe, moderate, mild hemophilia, respectively) with a median age at first assessment of 39 years (range, 18-77 years). 145/161 PWH (90%) reported episodes of pain with a median intensity (NRS) of 6 (range, 1-10), 5 (1-10), 3 (1-9) and median number of affected joints of 2, 2, 1 (range, 0-6) in PWH with severe, moderate, mild hemophilia, respectively. Only 10% of patients reported no pain and 15 patients (9.7%) had pain only in locations other than joints. 53% of PWH with mild hemophilia reported pain. Median pain interference in PWH with pain was rated 4 (range, 0-10); 51, 64, 22 PWH reported no, moderate and severe impact on mood, respectively. Pain intensity correlated with orthopedic joint score (r=0.426, p<0.001), but was not different between PWH (severe) treated prophylactically or on-demand at time of assessment. Median number of completed questionnaires per patient was 2 (range,1-5) with 93, 48, 13, 2 PWH completing 2, 3, 4, 5 questionnaires, respectively. Median pain intensity was stable over time, indicating that pain is a permanent burden in PWH. Conclusion This analysis of a routinely used pain assessment tool in an unselected population of PWH A and B reveals a high prevalence of pain episodes, consistent over time, as well as relevant pain interference and impact on mood. The effect of interventions needs to be further analyzed.
Clinical studies of extended-half-life recombinant FVIII products for prophylaxis in adults and children: A critical review from the physician's perspective
Hermans C., Reding M.T., Astermark J., Klamroth R., Mancuso M.E.
[In Process] Crit. Rev. Oncol. Hematol. 2022 174
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Abstract
This review compares the methodology of published clinical studies investigating the extended-half-life (EHL) factor VIII (FVIII) products, rFVIIIFc (efmoroctocog alfa, Elocta®/Eloctate®), BAY 94-9027 (damoctocog alfa pegol, Jivi®), BAX 855 (rurioctocog alfa pegol, Adynovate®) and N8-GP (turoctocog alfa pegol, Esperoct®) including the phase 2/3 studies, A-LONG (NCT01181128), PROTECT VIII (NCT01580293), PROLONG-ATE (NCT01736475) and pathfinder2 (NCT01480180), respectively, and their corresponding pediatric studies and extensions. Study results are interpreted from a treating physician's perspective, translating into evidence-based, real-life use of the different EHL recombinant FVIII products for personalized prophylaxis. The similarities between the studies include methodology, objectives, study design and cohort size. The differences include duration, prophylactic dosing intervals, number of patient arms, use of control group and randomization, and treatment allocation. Comparing these studies broadens physicians’ understanding of each treatment's applicability. Further evaluation of study data and future real-world studies should help physicians to confidently individualize and select treatment for each patient.
Abstracts of the World Federation of Hemophilia World Congress 2022, 8-11 May 2022, Montreal and Virtual
Haemophilia 2022 28: (5-97)
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Acute coronary syndrome in patients with hemophilia: a delicate balancing act
Mayfield J.J., Leavitt A.D., Tanriverdi T., Soni K., Ports T.A., Abraham M.R.
[Article in Press] [In Process] J. Thromb. Thrombolysis 2022
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Abstract
Therapeutic advances have resulted in increased life expectancy in patients with hemophilia. Consequently, the prevalence of coronary artery disease in this population is increasing. Little is known about the optimal management of acute coronary syndrome in these patients. Current guidelines for the management of this condition are based mainly on expert opinion and generally recommend administration of the clotting factor prior to the anticoagulant, antiplatelet, and interventional therapies. We report a case that illustrates the potential harm that may come from this approach: evolution of non–ST-segment elevation acute coronary syndrome into ST-elevation acute coronary syndrome during the administration of recombinant clotting factor. We review available literature and describe the refined informatics-based guidelines for managing acute coronary syndrome in patients with hemophilia we developed in response to the presented clinical case. We propose adopting this novel informatics-based approach, which aids in the identification and early treatment of these patients, operationalizes timely involvement of hematology experts, and gathers data for further study.
Safety of intramuscular COVID-19 vaccination in patients with haemophilia
Tiede A., Leise H., Horneff S., Oldenburg J., Halimeh S., Heller C., Königs C., Holstein K., Pfrepper C.
[Article in Press] [In Process] Haemophilia 2022
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Abstract
Background: Guidelines recommend that patients with haemophilia should preferably receive vaccination subcutaneously. COVID-19 and other vaccines, however, are only licenced for intramuscular application. Aims: To assess the safety of intramuscular COVID-19 vaccination in patients living with haemophilia. Methods: Part A of this prospective observational study enrolled consecutive patients with haemophilia A (HA) and B (HB) of all ages and severities and assessed injection site bleeding and other complications within 30 days of vaccination. Part B enrolled patients providing informed consent for detailed data collection including medication and prophylaxis around the time of vaccination. Logistic regression was performed to assess potential risk factors for bleeding. Results: Four hundred and sixty-one patients were enrolled into part A. The primary endpoint injection site bleeding occurred in seven patients (1.5%, 95% confidence interval.7–3.1%). Comprehensive analysis of 214 patients (404 vaccinations, part B) revealed that 97% of patients with severe haemophilia had prophylaxis before vaccination, either as part of their routine prophylaxis or using additional doses. 56% and 30% of patients with moderate and mild haemophilia, respectively, received prophylaxis before vaccination. Among the seven bleeds recorded, three occurred when intramuscular vaccination was done without prophylaxis (odds ratio 12). Conclusions: This is the first prospective study reporting on the safety of intramuscular vaccination in haemophilia. The rate of injection site bleeding was low in mild haemophilia, and in moderate and severe haemophilia if patients received factor prophylaxis.
Provision of Psychological Services in Hemophilia Treatment Postulated under the Guidelines of the WFH and the GTH-But Also in Demand? Experiences from the Hemophilia Center Bonn
Schleithoff E.S., Goldmann G., Horneff S., Klein C., Marquardt N., Oldenburg J.
Hamostaseologie 2020 40:SUPPL 1
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Abstract
Objectives The provision psychological and psychosocial offers for hemophilia patients is postulated under the GTH (Society for Thrombosis and Hemostasis Research) guidelines of 2018 as well as of those of the WFH (World Federation of Hemophilia) for hemophilia centers of the highest category. But are those offers of support still needed as well as demanded, although the medical treatment for hemophilia patients has become very effective and the HIV tragedy dates back more than 30 years? Answers are given on the basis of experiences and data from the Hemophilia Center Bonn. Methods A psychologist in part-time work (50%) belongs to the treatment team of the Hemophilia Center Bonn since 30 years. Initially implemented on account of the emotional pressure HIV-infected hemophiliacs and their families had to bear, psychosocial work has become a regular part of comprehensive care for a long time. Experiences with this conception and practice of psychosocial support during the last 10 years are evaluated and data concerning the extent of the use and the trend over time are presented. Results Our provision of psychosocial service is low-threshold and accepted by many patients and relatives. Their concern is manifold and the ways of support are diverse. Meetings differ concerning duration and frequency. The range goes from a single short counseling to long lasting psychotherapy. The extent of the use is stable or even increasing over the entire period of 10 years. This is demonstrated by the way of table and graph. Discussion Our experience and data illustrate an intense use of the provided psychological and psychosocial services, which is stable over time. Although medical treatment options for hemophiliacs are very good today, it becomes apparent that the need for psychological and psychosocial support is high. However, it is up for debate whether the use of support would be equally strong if it was provided by means of cooperation with an external service provider and not integrated into the regular treatment
The bleeding phenotype in people with non-severe hemophilia
Kloosterman F.R., Zwagemaker A.-F., Bagot C., Beckers E.A., Castaman G., Cnossen M.H., Collins P.W., Hay C.R., Hof M.H., Laros-van Gorkom B., Leebeek F.W.G., Male C., Meijer K., Pabinger I., Shapiro S., Coppens M., Fijnvandraat K., Gouw S.C.
[Article in Press] Blood Adv 2022 :
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Abstract
Detailed information on the onset, frequency and severity of bleeding in non-severe hemophilia is limited. We aimed to assess the bleeding phenotype of people with non-severe hemophilia, and to analyse the association between baseline factor VIII/IX levels and the joint bleeding rate. In the DYNAMO study, an international multicenter cohort, we included males with non-severe hemophilia (factor VIII/IX (FVIII/IX) 0.02-0.35 IU/mL) aged 12-55 years. Information on age at first treated (joint) bleed and the annual (joint) bleeding rates (A(J)BR) were collected from the medical files. The association between baseline FVIII/IX levels and the joint bleeding rate was assessed using a frailty model for recurrent events. In total, 304 people (70 moderate and 234 mild hemophilia) were included. The median age was 38 years (IQR 25-49) and the median baseline FVIII/IX level was 0.12 IU/mL (IQR 0.05-0.21). In total, 245 (81%) people had experienced at least one bleed and 156 (51%) had experienced at least one joint bleed. The median age at first bleed and first joint bleed was 8 and 10 years, respectively. The median ABR and AJBR was 0.2 (IQR 0.1-0.5) and 0.0 (IQR 0.0-0.2), respectively. From baseline FVIII/IX levels 0.02-0.05 IU/mL to >0.25 IU/mL, the median ABR decreased from 0.6 (IQR 0.2-1.4) to 0.1 (0.0-0.2) and the AJBR from 0.2 (0.0-0.4) to 0.0 (0.0-0.0). Baseline FVIII/IX was inversely associated with the joint bleeding rate (p <0.001). Low bleeding rates were observed in people with non-severe hemophilia. However, half of all adolescents and adults had experienced a joint bleed.
Health issues in women and girls affected by haemophilia with a focus on nomenclature, heavy menstrual bleeding, and musculoskeletal issues
Weyand A.C., Sidonio R.F., Sholzberg M.
Haemophilia 2022 28:S4 (18-25)
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Abstract
Introduction: Women and girls affected by haemophilia, including haemophilia carriers (WGH) are at risk of bleeding symptoms that may go unrecognized, including heavy menstrual bleeding (HMB) and musculoskeletal bleeding. Terminology continues to evolve. Aim: To describe the current recommendations for nomenclature surrounding WGH, and the current understanding of HMB, iron deficiency, and musculoskeletal complaints in these patients. Methods: Literature was reviewed and summarized. Results: With regards to nomenclature, women with factor levels less than 50% should be classified as having haemophilia, while carriers with normal levels should be characterized accordingly to symptomatology. HMB and resultant iron deficiency are common among WGH, have a multitude of downstream effects, and maybe overlooked due to stigma around menstruation. Musculoskeletal bleeding and resultant joint changes are increasingly recognized in this population but do not necessarily correlate with factor levels. Conclusion: Although progress has been made in the care of WGH, much work remains to further improve their care.
First experience of a hemophilia monitoring platform: florio HAEMO
Zapotocka E., Batorova A., Bilic E., Boban A., Escuriola Ettingshausen C., Faganel Kotnik B., Hrdlickova R., Laguna P., Machal J., Nemes L., Zupan I.P., Puras G., Zombori M.
Res. Pract. Thromb. Haemost. 2022 6:2
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Abstract
Background: florio HAEMO is a new hemophilia treatment monitoring application consisting of a patient smartphone application (app) and a web-based dashboard for healthcare professionals, providing several novel features, including activity tracking, wearable connectivity, kids and caregiver mode, and real-time pharmacokinetic factor level estimation. Objectives: To assess intuitiveness, ease-of-use, and patient preference of florio HAEMO in Central Europe using a cross-sectional survey. Methods: This survey was conducted in six Central European countries between 9 December 2020 and 24 May 2021. The online questionnaire included 17 questions about overall satisfaction, ease-of-use, intuitiveness, and patient preference. Adults or children with hemophilia on regular prophylaxis and using the florio HAEMO app for a minimum of 1 week were invited to complete the online questionnaire by their treating physician. Results: Sixty-six participants took part in the survey. The median duration for all respondents using the florio HAEMO app was 3 to 4 weeks. Overall, 89.4% of users reported being very satisfied or rather satisfied after using florio HAEMO. Of the 23 respondents who had switched from another hemophilia app, 87.0% indicated that they strongly preferred or preferred using florio HAEMO. Most florio HAEMO users reported that the app was very easy or rather easy to use (97.0%) and intuitive (94.0%). florio HAEMO had a positive impact on daily living, with 78.8% of users reporting that the app was very important or rather important to them. Conclusions: This survey suggests that florio HAEMO is an easy-to-use and intuitive app to assist self-management of home prophylaxis.
An exploration of why men with severe haemophilia might not want gene therapy: The exigency study
Fletcher S., Jenner K., Holland M., Chaplin S., Khair K.
Haemophilia 2021 27:5 (760-768)
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Abstract
Introduction: For many people with haemophilia (PwH) gene therapy offers a potential functional cure. However, some have stated that they do not wish to have gene therapy either now or in the future. Aim: This sub-study, part of the larger Exigency programme, assesses the attitudes, views and understanding of those who do not wish to undergo gene therapy. Methods: Participants were approached via social media and word of mouth referral and invited to participate in a focus group or individual interview to discuss their views. Interviews were recorded, transcribed verbatim and analysed thematically. Results: Ten adult men with severe haemophilia (eight haemophilia A and two haemophilia B), mean age 34.3 years, participated in a 1-h focus group (n = 9) or interview (n = 1). All were on prophylaxis. None reported significant treatment burden, and all had annual bleeding rates of less than five in the previous 12 months. Four major themes emerged: self-identity and its loss, lack of long-term safety and efficacy data, ongoing concerns about past viral infection, and lack of current treatment burden. Conclusion: There are many concerns about gene therapy, including eligibility, effectiveness and safety, which may result in individuals declining it as a therapy. These concerns may recede as more data are published. This study reveals a psychological dynamic around self-identity and belonging for PwH. The nature of this dynamic is poorly understood and needs exploration to facilitate support for those making decisions about gene therapy.
Changes in pain profile of patients with haemophilia during 1-year follow-up
Krüger S., Herzig M., Hilberg T.
Haemophilia 2021 27:5 (783-792)
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Abstract
