Fatos Dilan Atilla, Ahmet Alp Unat, Hale Bulbul, Murat Ulukus, Zuhal Demirci, Guray Saydam and Fahri Sahin
Acquired haemophilia A (AHA) is a rare, autoimmune disease, presenting as sudden haemorrhages without any personal or family history. Anti-factor VIII (FVIII) is the most commonly recognised autoantibody resulting in decreased factor activity. The aetiology and pathophysiology of these antibodies remains unclear. Approximately 50% of reported cases are idiopathic; the rest are associated with other conditions, mainly underlying malignancies, autoimmune diseases (eg rheumatoid arthritis (RA), systemic lupus erythematosus), drug administration and postpartum period. A 74-year-old woman presented to our institution with haematochezia and haematuria. She had a medical history of cervix carcinoma; total abdominal hysterectomy and bilateral salpingo-oophorectomy with postoperative chemoradiotherapy was performed in 2011. She had also been followed up for 20 years for deforming and severe RA, which was in low-disease activity with methotrexate and corticosteroid. Laboratory investigations for abnormal bleeding revealed prolongation of activated partial thromboplastin time (APTT). APTT prolongation was not corrected by 50:50 plasma mixing studies, and a confirmatory factor assay demonstrated FVIII deficiency (1.4 IU/dL; normal range 50-150 IU/dL). Positive FVIII antibodies on Bethesda testing confirmed a diagnosis of AHA. A rectosigmoid mass and fistula between rectum and bladder were discovered by computed tomography (CT). Bleeding was controlled with recombinant activated factor VII (rFVIIa) after two weeks. Eradication of the inhibitor was achieved with high-dose pulse methylprednisolone for two days and then 2mg/kg daily over four weeks.
Few would disagree that haemophilia presents challenges for everyone who lives with it. Perhaps the greatest of these is being denied the opportunities available to other people through fear of bleeding and joint damage. The regular infusions and clinic appointments that characterise treatment are certainly burdensome, and sometimes traumatic for children and parents alike; but being told ‘People with haemophilia can’t do this…’ is damning in its finality. It is enough to make you demand, ‘Why not?’ - which is exactly what Clive Smith and a growing number of people in the haemophilia community are asking.
Sickle cell disease and haemophilia are rare inherited disorders that require intensive management. Few cases of people with both disorders have been reported. This case study describes the impact of living with these disorders and coping with their management on a boy and his mother.
Courtney Schroeder, Richard Fw. Barnes, Lena Volland, Sonha Nguyen and Annette von Drygalski
Background: Low impact physical activity is important for patients with haemophilic arthropathies, but is often considered boring with suboptimal adherence. There is therefore a need for physical activities that motivate patient engagement. Aims: To evaluate the benefits of top rope climbing, increasingly used in other musculoskeletal disorders, as an engaging sports discipline in haemophilia. Materials/Methods: Six adult arthropathic patients with haemophilia (PWH) completed 12 sessions of tailored top rope climbing training. Functional and clinical joint status, climbing skills, quality of life (QoL), annual bleed rate (ABR) and joint findings with musculoskeletal ultrasound/power doppler (MSKUS/PD) were assessed before and after climbing. Results: Haemophilia joint health scores, dorsiflexion in arthropathic joints and climbing skills all improved. ABRs were comparable before and during climbing, and QoL remained high. MSKUS evaluation demonstrated no detrimental effects on synovial and cartilage health, with a decrease of inflammatory PD signal in some joints. Conclusion: We conclude that top rope climbing therapy (known as “Haemophilia Vertical”) can improve joint health in PWH with arthropathies. Haemophilia Vertical therefore emerges as an innovative athletic concept to promote physical activity among PWH. Further study investigating the longer-term impact in a larger cohort is warranted.
Galila Mokhtar, Amal El-Beshlawy, Mohssen El Alfy, Magdy El Ekiaby, Naglaa Omar, Khaled Abd El-Azim Eid, Hoda Hassab, Osama El Safy, Ahmed Mansour, Rasha El Ashry, Naglaa Shaheen and Azza Abdel Gawad
These guidelines have been developed by an expert panel of haemophilia treaters to support the appropriate management of people with haemophilia in Egypt. Although the guidelines are based primarily on the World Federation of Hemophilia (WFH) Guidelines for the Management of Hemophilia, they aim to address unmet needs and local requirements in the Egyptian setting.
This article describes a case of wrongly managed haemophilic arthropathy in a 15-year-old boy in Uganda. Delayed diagnosis of haemophilia and misdiagnosis of haemophilic arthropathy resulted in unnecessary corrective surgery and potentially severe complications. After haemophilia was diagnosed, he was managed by haematologists using factor VIII and regular physiotherapy. The physiotherapy treatment approach focused in particular on functional activities, which was beneficial in achieving quicker results and made the patient’s rehabilitation more meaningful. This case indicates that there is a need for greater awareness of the presentation of haemophilia in developing countries.
Background: Scarcity of FVIII concentrate compels caregivers in poor countries to use multiple transfusions of fresh whole blood (FWB), fresh frozen plasma and cryoprecipitate for managing haemophilia A. FWB is the most frequently transfused blood product due to ease of production and its ability to simultaneously stop active bleeding and treat anaemia. Iron deficiency anaemia is common among haemophiliacs in poor tropical countries such as Nigeria, due to the combined effects of bleeding, malnutrition, and haemorrhagic parasitic diseases. Multiple FWB transfusion is usually initiated at local sub-tertiary hospitals before eventual referral to tertiary hospitals. The Nigerian blood transfusion service is underdeveloped, donor screening is rudimentary and transfusion safety is poor. The prevalence of transfusion transmissible viral infections (TTVIs), including HIV, and hepatitis B and C viruses (HBV and HCV), is therefore predicted to be high among Nigerian haemophiliacs. Aims: To determine prevalence and pattern of TTVIs (HIV, HBV, HCV infections) among paediatric haemophiliacs who have received multiple FWB transfusions in Nigeria. Materials and methods: Retrospective analyses of demographic and clinical data, disease severity, number of previous transfusions of FWB, and prevalence and pattern of TTVIs (HIV, HBV and HCV infections) of newly referred haemophiliacs as seen in five tertiary hospitals in northern Nigeria. Prevalence rates of TTVIs were expressed as percentages. Comparisons of parameters (age, disease severity and number of previous transfusions) between patients with and without TTVIs were performed using Students t-test for mean values and Fisher’s exact test for percentages, with p-values of less than 0.05 taken as significant. Results: Of 97 haemophiliacs studied, 24 (24.7%) were infected with TTVIs. The pattern and frequencies of TTVIs among the infected patients revealed HBV infection in 10 (41.7%), HIV-1 infection in five (20.8%), HCV infection in four (16.7%), HBV and HIV co-infection in three (12.5%), and HBV and HCV co-infection in two (8.3%). In comparison with haemophiliacs without TTVIs, haemophiliacs with TTVIs had a significantly lower mean age (4.9 vs. 7.8; p=0.007); a higher proportion of severe disease (62.5% vs. 26%; p=0.009), and a higher mean number of transfusions per patient (27.5 vs. 15.3; p=0.006). Conclusions: The prevalence of TTVIs among haemophiliacs in Nigeria is high, and the risk is correlated with disease severity and number of previous transfusions. There is need for the national transfusion service to be upgraded and for standard haemophilia care centres with an adequate supply of FVIII concentrates for optimal care to be set up. Haemophilia healthcare providers in Nigeria can minimise multiple transfusions by incorporating regular screening and treatment of haemorrhagic parasitic diseases, iron supplementation, and the use of pharmacological agents in the standard of care for haemophilia.
Sandra Dodgson, Mike Holland, Luke Pembroke and Kate Khair
Transition is the term used to describe the process of approaching and crossing the chronological boundary between paediatric and adult care services. Transfer of care describes the administrative arrangements associated with moving from a paediatric to an adult service across this boundary. Transforming Transition was a nurse-led initiative designed to facilitate the sharing of knowledge and experience to enhance transition practice in the UK. The aims of the programme were to secure changes in working practices that enabled nurses to drive improved transition outcomes, enhance self-management by people with haemophilia and develop clinical leadership. From the outset of the programme it was clear that there were differences in practice and that sharing practice would be one route to addressing some of these variations. As a result of the knowledge and experience shared through the programme, resources described in this paper are available to all haemophilia centres. Sharing between people with haemophilia, their families and carers, and the haemophilia clinical team have resulted in the development of practical resources that enhance practice within the haemophilia centre. Sharing of practice between nurses and young people with haemophilia at the programme workshops provided a focus for development of local and regional action plans, a framework for reviewing progress, the introduction of transition clinics and improved transition documentation.