Volume 1 (2013): Issue 2 (May 2013)

It is said that men have haemophilia and women are carriers, affected or unaffected. The terminology used is significant. Why it is that men are described as ‘having’ haemophilia and women with haemophilia are described as affected carriers? After all the men ‘carry’ the gene just as the women do and pass it on to their daughters. Likewise many women have Factor IX or Factor VIII levels that, if they were a man, would be categorised as mild or even in some cases moderate or severe haemophilia. Yet haemophilia is widely viewed as a condition affecting men with women as the passive vehicle for its transmission from generation to generation. There are many issues for women that are affected by this choice of terminology. Among them are their ability to access healthcare and their acknowledgement within healthcare systems throughout the world. Are women with the same factor level as men viewed in the same manner by healthcare professionals and do they acknowledge their own bleeding disorder as being the same as their male counterparts? How many women are unaware of their own bleeding disorder because they have only been viewed as ‘carriers’? Research into these issues is limited. This paper explores the aspects that affect women with haemophilia, from the definition in its historical context, obtaining a diagnosis, psychosocial elements, access to treatment, changing attitudes and acknowledgements within both the medical community and the wider community.

Introduction: Severe factor X deficiency is a rare serious bleeding disorder historically treated with fresh frozen plasma (FFP) and more recently with prothrombin complex concentrate (PCC) which contains activated factors II, VII, IX and X. The infusion volume of PCC is smaller than FFP, but there is a risk of thromboembolic complications given the presence of activated forms of vitamin K-dependent factor concentrates when treating an isolated coagulation factor deficiency. Methods: We describe the case of a nine-year-old girl of consanguineous origin with co-existent congenital merosin deficient muscular dystrophy and severe factor X deficiency treated with twice-weekly PCC prophylaxis via an indwelling central venous access device (CVAD). Infusion occlusion of her fifth CVAD occurred 24-months post-insertion; thrombus within the right subclavian and brachiocephalic veins was seen on radiological imaging. She started peripheral treatment with BPL Factor X concentrate as infusion volumes were smaller and given her immobility further thrombotic risk was predicted to be reduced. A sixth CVAD was inserted seven months later and BPL Factor X prophylaxis was continued. Results:BPL Factor X concentrate was effective in maintaining trough levels of 13IU/ml 72-hours post-dose, with no intercurrent bleeding episodes or further problems in terms of occlusion of her portacath. Further radiological screening has not been undertaken. Conclusion: BPL Factor X has been shown to be a safe and effective alternative to PCC for treatment of severe factor X deficiency in this case.

Introduction: Self-completed measures of physical function and quality of life are increasingly being used in clinical practice yet little is known about how these measures correlate with joint scores in boys with severe haemophilia. In addition, it is not known whether currently used measures of functional outcome correlate with quality of life measures, which measure of physical function is most accurate and whether these measures are acceptable to a well treated contemporary cohort of boys. Methods: The Study Of physical Function In adolescenTs with haemophilia (SO-FIT) is a multicenter, randomized cross-over study designed to answer these questions, and to determine whether these self-reported measures are completed more fully and frequently if made available on mobile devices rather than with conventional pen and paper questionnaires. The study is being run by haemophilia nurse specialists and physiotherapists in UK haemophilia centres and will recruit 120 boys with severe haemophilia A or B, with or without inhibitors aged 8-16 years. Results:The SO-FIT study is now underway, and is expected to complete by the end of 2014.

introduction: Adolescents experience important changes in their physical, emotional, social and behavioural development. It is known that adolescents wish to be accepted by their peers, strive for independence and are prone to experiment. The challenge for adolescents with haemophilia is the need for taking responsibility for managing their illness and learning to comply with recommended treatment. This study aimed to investigate the process of adherence to treatment in adolescents with haemophilia. Methods: Grounded theory was used, based on one-on-one interviews (n=13) with adolescents with haemophilia. Results: The results include the core category “maturing selfcompetence” which represents the continuous developmental process from birth to teens with regard to haemophilia care. Three constitutive categories “living in a haemophiliac’s body”, “sharing with others” and “being protected and walking in faith” represent basic experiences in an adolescent's life. Further emergent categories include “becoming and staying informed”, “becoming and staying an expert”, “being in action”, “living between oblivion and awareness”, and “finding peace”. The adolescent stage “maturing self-competence” and their assessment of the situation at hand form the basis for decisions concerning adherence. Conclusion: Considering adolescents to be competent managers with regard to their disease, and including them in a partnership decision-making process for the therapeutic regime are the most important requisites for effective adherence.

Introduction: The use of BtA in spasticity management is well documented in the literature for the management of hypertonicity in children with cerebral palsy. Methods: We report a case of a 2-year-old boy with severe haemophilia and cerebral palsy who received intramuscular injections of botulinum toxin-A (BtA) to reduce his spastic diplegia lower limb hypertonicity. Results: Following treatment, clinical and formal assessments demonstrated positive changes in ambulation, tolerance of orthotics, functional abilities and musculoskeletal range of movement and no adverse bleeding side effects. Conclusion: The use of BtA should be considered for the management of hypertonicity in children with haemophilia and cerebral palsy.

Clotting factor concentrates used in the treatment of haemophilia are now procured centrally in the UK by nationally organised competitive tendering to obtain the best product price while still preserving some degree of prescribing freedom. Inevitably, however, some patients are required to switch from one brand of factor VIII to another to fulfil contractual requirements. This process of switching patients from one product to another falls to staff at individual haemophilia centres, with haemophilia nurses in particular playing a key role. This article outlines the national procurement process and discusses how the switch can be managed quickly and smoothly, as well as providing practical guidance on selecting which patients may be asked to switch. Issues such as patient communication, managing potential patient anxiety and efficient stock management are also discussed.

The Latin American net of Prophylaxis and Immune Tolerance (RED LAPI) was established in 2010 and comprises a group of physicians dedicated to improving the diagnosis, treatment and quality of life of haemophilia patients in Latin America. The countries represented at RED LAPI are: Argentina, Chile, Uruguay, Venezuela, Colombia, Peru, Honduras, Guatemala, Paraguay, Dominican Republic, Bolivia, Ecuador and Panama. Analysis of the provision of care for haemophilia patients suggests a lack of consistent care both across and within Latin America countries. While some patients receive prophylaxis and immune tolerance induction (ITI), others are not even properly diagnosed, due to variation in patient’s health insurance. Few countries in Latin America have a national program that registers all patients’ information. Therefore, in many countries it is difficult to identify local, regional and national data regarding the number of diagnosed patients, type of hemophilia, severity, and the kind of treatment. With respect to patients with inhibitors, some countries rely on bypass agents for the treatment of bleeding episodes while a few are able to do ITI. This paper summarises available data obtained by a survey of RED LAPI members regarding the diagnosis and treatment of haemophilia in their countries, as well as the incidence of inhibitors and the treatments available to patients. Based on this analysis, the aim is to propose plans to improve the current situation of haemophilia patients in Latin America.

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Most health care professionals will regard treating a bleed with factor as a routine matter. But bleeds - and getting them treated - can still be a major stress for patients. Trish Bell takes a walk in Sam’s shoes