Haemophilia Foundation Australia

Hemophilia B (HB) is a rare, hereditary disease caused by a defect in the gene encoding factor IX (FIX) and leads to varying degrees of coagulation deficiency. The prevailing treatment for people with HB (PWHB) is FIX replacement product. The advent of recombinant coagulation products ushered in a new era of safety, efficacy, and improved availability compared with plasma-derived products. For people with severe HB, lifelong prophylaxis with a FIX replacement product is standard of care. Development of extended half-life FIX replacement products has allowed for advancements in the care of these PWHB. Nonetheless, lifelong need for periodic dosing and complex surveillance protocols pose substantive challenges in terms of access, adherence, and healthcare resource utilization. Further, some PWHB on prophylactic regimens continue to experience breakthrough bleeds and joint damage, and subpopulations of PWHB, including women, those with mild-to-moderate HB, and those with inhibitors to FIX, experience additional unique difficulties. This review summarizes the current challenges faced by PWHB, including the unique subpopulations; identifying the need for improved awareness, personalized care strategies, and new therapeutic options for severe HB, which may provide future solutions for some of the remaining unmet needs of PWHB.

Haemophilia management and patients' quality of life significantly improved. However, data on current patients', caregivers' and clinicians' satisfaction and limitations of treatments and haemophilia management are limited. Assessing the management satisfaction and unmet needs from the perspective of Italian patients with haemophilia (PWH) without inhibitors (or caregivers if children) and of specialist physicians. Surveys (for patients≥18 years, caregivers of children and haemophilia specialists) were developed by a multidisciplinary working group and conducted from November 2019 to June 2020. Among 275 participants, 120 (43.6%) were PWH without inhibitors, 79 (28.7%) caregivers and 37 (13.4%) clinicians. Patients and caregivers perceived a higher control of the disease compared to clinicians. However, more than 40% of patients and caregivers reported to feel significantly conditioned by the risk of bleeding during their daily life. PWH reported a 6-month mean/median (range) of bleeds 2.3/.0 (0-24) and caregivers 1.3/.0 (0-16) in children. The treatment burden (frequency of administration) was not satisfactory for more than half adults and caregivers of children treated with prophylaxis. A good access to treatment, haemophilia centres and medical service was reported, with issues associated to the multidisciplinary approach and treatment at emergency department. This large national study provides an updated overview of haemophilia care in Italy from different points of views, highlighting positive aspects and unmet needs. This information can guide future interventions to improve haemophilia management and the assessment of impact of new treatment options.

Objective The phase 3 extension study with rIX-FP, a long-acting fusion protein, has demonstrated low annualised bleeding rates in patients with haemophilia B treated with rIX-FP prophylaxis. rIX-FP enables treatment to be tailored to the needs of individual patients, with dosing flexibility allowing selected patients to be treated with prophylaxis intervals of 7, 10, 14 or 21 days. Data on the use of rIX-FP in routine clinical practice are required. Prospective, non interventional, multicentre studies are ongoing to gather data on efficacy, safety and health-related quality of life outcomes in patients treated with rIX FP during routine clinical practice in Europe.

Abstract Gut microbial dysbiosis have been linked to frailty in elderly, yet the presence of fungal communities and their possible association with host health are little understood. This study attempts to identify gut microbial fungal associations with the progression of atherogenic dyslipidemia in a population of older adults by investigating the interplay between dietary intake, gut mycobiome composition, plasma and fecal metabolome and anthropometric/body-composition measurements of 99 Danes aged 65 to 81 (69.57 ± 3.64) years. The gut mycobiome composition were determined by high-throughput sequencing of internal transcribed spacer (ITS2) gene amplicons, while the plasma and fecal metabolome was determined by GC-MS. The gut microbiome of the subjects investigated is home to three main eukaryotic phyla, namely Ascomyco-ta, Basidiomycota and Zygomycota, with generaPenicillium, Candida, andAspergillusbeing particularly common. Hypertriglyceridemia was associated with fewer observed fungal species, and Bray-Curtis dissimilarity matrix-based analysis showed significant (p< 0.05) clustering according to fasting levels of circulating plasma triglycerides (Tg) and very low-density lipoprotein (VLDL) cholesterol fasting levels, respectively. Higher levels of Tg and VLDL cholesterol significantly associates with increased relative abundance of genusPenicillium, andSaccha:ramyceslikely mediated by a higher dietary fatty acids intake (p< 0.05), andSac-charomyces, Debaryomyces, Candida, AgaricusandStarmerellawere moderately associated with SCF As groups. Collectively, these findings suggest that gut mycobiome dysbiosis on older adults is associated with hypertriglyceridemia, a known risk factor for development of cardiovascular disease.

Pseudotumours are a rare, severe complication of haemophilia which can occur in a spectrum of bones and soft tissues. It consists of an encapsulated blood collection, and as the swelling increases causes compression and eventual slow destruction of surrounding structures. Presented here are two cases of patients with haemophilia and pseudotumours, which demonstrate the heterogeneity of presenting symptoms and of treatment options.