Management and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States.

BACKGROUND: Pregnancy, peripartum management, and outcomes of mild hemophiliacs and hemophilia carriers in the United States are not well established. AIM: To describe the management and outcomes of mild hemophiliacs and hemophilia carriers during assisted conception, pregnancy, peripartum and post-partum period at our hemophilia treatment center (HTC). METHODS: Retrospective review of electronic medical records of pregnant women with mild hemophilia A or B (Factor VIII [FVIII] or Factor IX [FIX] level <0.4 IU/mL) and hemophilia A and B carriers followed at our HTC from January 2008 to October 2020. Demographics, the reason for diagnosis, FVIII and FIX levels at baseline and third trimester, bleeding phenotype and genotype were obtained. Method of conception, factor replacement, iron supplementation, mode of delivery, type of anesthesia, peripartum complications, and offspring outcomes was recorded. RESULTS: There was a total of 18 pregnancies in 12 women (2 with mild hemophilia A, 2 mild hemophilia B, 6 hemophilia A carriers, and 2 hemophilia B carriers). Eleven pregnancies (61%) were conceived naturally and 7 (39%) via in-vitro fertilization (IVF). Eight (44.4%) and 10 (55.6%) pregnancies were vaginal and C-section deliveries, respectively. Neuraxial anesthesia was administered in 17 (94.4%) deliveries without complications. Four pregnancies (22.2%) had bleeding complications, 2 of which were post-partum hemorrhages not requiring transfusion. CONCLUSION: In our case series of pregnant hemophilia carriers and mild hemophiliacs, successful outcomes were achieved with a carefully detailed multidisciplinary-driven approach.

Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study.

BACKGROUND: Except for data in the Korea Hemophilia Foundation Registry, little is known of the epidemiology of congenital bleeding disorders in Korea. METHODS: Data were obtained from the Korean Health Insurance Review and Assessment Service (HIRA) database. RESULTS: From 2010 to 2015, there were 2,029 patients with congenital bleeding disorders in the Korean HIRA database: 38% (n = 775) of these patients had hemophilia A (HA), 25% (n = 517) had von Willebrand disease (vWD), 7% (n = 132) had hemophilia B (HB), and 25% (n = 513) had less common factor deficiencies. The estimated age-standardized incidence rate (ASR) of HA and HB was 1.78-3.15/100,000 and 0.31-0.51/100,000, respectively. That of vWD was 1.38-1.95/100,000. The estimated ASR of HA showed increase over time though the number of new patients did not increase. Most patients with congenital bleeding disorders were younger than 19 years old (47.8%), and most were registered in Gyeonggi (22.1%) and Seoul (19.2%). CONCLUSION: This is the first nationwide population-based study of congenital bleeding disorders in Korea. This study provides data that will enable more accurate estimations of patients with vWD. This information will help advance the comprehensive care of congenital bleeding disorders. We need to continue to obtain more detailed information on patients to improve the management of these diseases.

Potential of the Community Counts registry to characterize rare bleeding disorders.

INTRODUCTION: Rare bleeding disorders (RBDs) comprise of heterogeneous coagulation factor deficiencies and platelet disorders that are underreported worldwide. AIM: First report on RBD data from United States haemophilia treatment center network (USHTCN). METHODS: A national surveillance system for the federally recognized USHTCN developed in collaboration with the Centers for Disease Control and Prevention (CDC) and American Thrombosis and Haemostasis Network (ATHN) was queried for patients with RBDs. Patient counts were extracted from the HTC Population Profile (HTC PP) component including limited data on patients followed through the USHTCN, and from the Registry component, including patient authorized, detailed clinical data. The prevalence of RBDs in the United States was estimated based on the HTC PP data and compared to the expected national prevalence based on data extrapolated from Orphanet, an international registry. RESULTS: Based on the estimated prevalence of RBD in the overall 2017 US population, the cases in the HTC network were lower than expected for FI, FII, FX, and FV + FVIII deficiencies by 36%, 61%, 75% and 94%, respectively, and higher than expected for FXIII, FV, FVII, and FXI deficiencies by 7%, 14%, 33% and 185%, respectively. The proportion of RBD patients reported in the HTC PP, enrolled in the Registry, was 10.8%. CONCLUSIONS: There is a clear need to identify individuals with RBDs who could benefit from the comprehensive care provided in the USHTCN. In addition, increased enrolment of people with all RBDs in the Registry is needed to improve knowledge of treatment outcomes of patients with RBDs in the United States.

The Jamaican Haemophilia Registry: Describing the burden of disease.

INTRODUCTION: Jamaica has an estimated 200 persons with haemophilia (PWH), who face significant constraints in access to specialized haemophilia care, including access to clotting factor concentrates. AIM: The aim of this paper is to establish the current burden of disease in PWH in Jamaica. METHODS: PWH were enrolled through the University Hospital of the West Indies, Jamaica. The impact of haemophilia was assessed using a comprehensive battery of heath outcome measures that included the following: laboratory, clinical information and validated outcome measures of joint structure and function, activity, and health-related quality of life (HRQoL) to provide a health profile of the Jamaican haemophilia population. RESULTS: In all, 45 PWH were registered (mean age: 29, range: 0.17-69 years), including 13 children (<18 years of age) and 32 adults. In this sample, 41 had haemophilia A (30 severe) and 4 had haemophilia B (3 severe); 10 patients with haemophilia A were inhibitor positive. The results indicate that adults with haemophilia in Jamaica have significant joint damage: mean Haemophilia Joint Health Score (HJHS) = 42.1 (SD = 17.3); moderate activity levels - mean Haemophilia Activities List (HAL) score = 64.8 (SD = 17.8); and low HRQoL scores - mean Haemo-QoL-A score = 62.3 (SD = 19.4). Results for children are also reported but should be interpreted with caution due to the small sample size. CONCLUSIONS: There is a very high burden of disease in PWH in Jamaica. The health profiles reported in this paper are an essential first step in advocating for a multidisciplinary Comprehensive Care Program for assessment and care of PWH in Jamaica.

Treatment of musculo-skeletal pain in haemophilia.

Musculo-skeletal pain treatment is inadequate in many haemophilic patients. Analgesics are used only by 36% of adult patients. FVIII/FIX intravenous infusion is mainly used to lessen pain, followed in frequency by usage of NSAIDS (primarily COX-2 inhibitors). In about 30% of patients, pain continues after infusion of F VIII/IX. In acute haemarthroses pain treatment must continue until total disappearance (checked by ultrasonography) and include haematologic treatment, short-term rest of the involved joint, cryotherapy, joint aspiration and analgesic medication (paracetamol in mild pain, metamizole for more intense pain, and in a few precise patients, soft opioids such as codeine or tramadol). In the circumstance of intolerable pain we should use morphine hydrochloride either by continual infusion or a patient-controlled analgesia (PCA) pump, determined by the age, mental condition and grade of observance of the patient. Epidural blocks utilizing bupivacaine and fentanyl may be very efficacious as well. Three main strategies to alleviate chronic musculo-skeletal pain secondary to haemophilic arthropathy (joint degeneration) exist: pharmacologic management, physical medicine and rehabilitation, and intra-articular injections. As for pharmacologic management, NSAIDs (ibuprofen, diclofenac, celecoxib, robecoxib) are better than paracetamol. The advantages of tramadol or tramadol/paracetamol and non-tramadol opioids are scanty. With respect to physical medicine and rehabilitation, there is insufficient confirmation that a brace has supplementary favourable effect compared with isolated pharmacologic management. Land-based curative exercise and watery exercise have at the minimum a tiny short-run benefit. Curative ultrasound can be helpful (poor quality of evidence). The efficacy of transcutaneous electrostimulation (TENS) for pain mitigation has not been proved. Electrical stimulation treatment can procure notable ameliorations. With respect to intra-articular injections, viscosupplementation appears to be a useful method for pain alleviation in the short-run (months). The short-run (weeks) advantage of intra-articular corticosteroids in the treatment of joint pain has been shown.

What should men living with haemophilia need to know? The perspectives of Canadian men with haemophilia.

Haemophilia is an inherited bleeding disorder affecting approximately 3000 Canadian men (Walker 2012). To manage their disease effectively individuals must be knowledgeable about the disease, bleed prevention strategies, treatment approaches, and complications. Data on individuals' knowledge levels are scarce. The availability of such data could lead to better educational strategies for disease management. The aim of this study was to determine current knowledge levels, needs and gaps among Canadian individuals with haemophilia to facilitate optimal disease management. A survey was disseminated to adult males with haemophilia at three Haemophilia Treatment Centres (HTCs) in Canada. Self-reported current knowledge levels and knowledge seeking were measured. Survey respondents reported highest levels of knowledge in the following areas: identifying and treating a bleed, haemophilia and physical activity, travel, career issues and genetics. Lower levels of knowledge were reported in the areas of sexual activity, product safety, information about factor, haemophilia and ageing, advocacy, timing of prophylactic infusions, and new or alternative therapies. Treating a bleed was the most commonly sought information, followed by information about factor, product safety, identifying a bleed and other health care issues. There was a positive correlation between knowledge seeking and severity of disease. HTC attendance was associated with knowledge seeking, and HTCs were the most frequented knowledge source, followed by the Canadian Haemophilia Society website. Canadian men were well informed; the HTC's role in knowledge sharing was recognized. Timing of infusions, sexual activity and ageing are areas which should be targeted in knowledge sharing.

Clinical management of older persons with haemophilia.

Life expectancy for people with haemophilia (PWH) has improved and is now approaching that of the general population. The growing population of elderly PWH will therefore increasingly face the age-related morbidities such as cardiovascular diseases, malignant disease, liver disease, and bone and joint related diseases, as well as the lifestyle and psychosocial factors that accompany many of these conditions. For many PWH, frequent contact with haemophilia specialists within the comprehensive care centres supplants the relationship that individuals in the general population have with their general practitioners. As a result, there is a risk that elderly PWH may miss the chronic disease screening opportunities offered to the general population. This review focuses on the screening tests and examinations recommended for age-related comorbidities in the general population that may be applicable to the growing population of older people with haemophilia.

A synopsis of current haemophilia care in Hong Kong.

OBJECTIVE: To provide a synopsis of current haemophilia care in Hong Kong. DESIGN: Retrospective survey. SETTING: All haematology units of the Hospital Authority in Hong Kong. PATIENTS: All patients with haemophilia A and haemophilia B. RESULTS: To date, there were 222 mild-to-severe haemophilia patients (192 type A, 30 type B) under regular public care in Hong Kong (43% were considered severe, 33% moderate, and 24% mild), which gave a crude prevalence of 6.8/100 000 male inhabitants. A total of 12.8 million units of Factor VIII and 3 million units of Factor IX were prescribed annually. This amounts to 1.83 units of FVIII per capita of the population, which is comparable to that of other developed countries. Leading causes of mortality were human immunodeficiency virus-related complications (10 cases) and cerebral bleeding (2 cases). The life expectancy of patients with severe haemophilia in Hong Kong is improving; currently the oldest patient is 60 years old. Such improved survival may be due to enhanced factor availability, prompt treatment of bleeding episodes at home, safer factor products, and better antiviral treatment. Primary prophylaxis is the accepted standard of care for severe and moderate cases, and "Factor First" has become hospital policy. However, 12 patients continue to present treatment challenges, due to the documented presence of factor inhibitors. In all, 28, 100, and 14 cases respectively were positive for human immunodeficiency virus, hepatitis C virus, and hepatitis B virus; the youngest patients with the corresponding infections being 28, 13, and 22 years old. Comprehensive care with dedicated physiotherapy, surgical support, and radionucleotide synovectomy may reduce morbidity further. CONCLUSION: A multidisciplinary approach can further improve the future care for haemophilia patients in Hong Kong.

Haemophilia care in South Africa: 2004-2007 look back.

The South African national haemophilia program (NHP) was officially recognized in 2000 and implemented by the National Department of Health (NDOH), haemophilia specialists of the Medical and Scientific Advisory Council (MASAC) and the South African Haemophilia Foundation (SAHF). This study aims to report on progress and challenges of haemophilia care in SA after implementation of the NHP. Haemophilia care data collected by MASAC from all treatment centres (HTCs) from 2004 to 2007 were reviewed and appraised. Data assessment included evaluation of the number and types of professional haemophilia expertise, diagnostic and human resources available, number and types of HTCs, number and types of haemophilia diagnoses, immunological complications of haemophilia, social, medical and surgical interventions, factor usage and reporting on haemophilia mortality. Over 2200 bleeding diathesis patients in SA were cared for by an average of 79 professionals in 17 HTCs. Fifty-nine per cent were haemophilia A, 21% von Willebrand's disease, 12% haemophilia B and the remainder had rare bleeding diathesis and thrombocytopathies. In 2004-2007, the number of haemophilia professionals stayed the same, clinic visits increased, new patients and inhibitor patients also increased. Surgical and medical interventions were unchanged and per capita factor usage increased from 0.65 to 0.95. National mortality rate remained below 10 deaths per year. Haemophilia care in SA is highly organized and effective in the delivery of haemophilia health services. All diagnosed uncomplicated haemophiliacs have access to state funded factor concentrate. Limited human and diagnostic resources remain major challenges.