The European Haemophilia Consortium (EHC) held on Monday 30 November 2015, its third and last Round Table of the year on ‘Mild and Moderate Haemophilia.’ The event was supported by Members of the European Parliament (MEPs) Mrs Mady Delvaux-Stehres and Dr Cristian Bușoi. Prof Paul Giangrande (Chair, EHC Medical Advisory Group) chaired the event and moderated the discussions.
Referred to as the silent majority of the haemophilia community, people affected by mild and moderate haemophilia make up for more than half of the patient population and yet they are vastly under-represented in patient organisations and the condition is often downplayed by patients and non-specialist treaters alike. All of this leads to a lack of health literacy amongst patients as well as limited scientific and clinical research. Although these patients are not severely affected by haemophilia, they face nonetheless some of the same issues as patients with the severe form of the disease such as increased bleeding during surgery, the risk of developing inhibitors and potentially developing arthropaties and joint damage. Unlike patients suffering from the severe form of haemophilia, patients with mild and moderate haemophilia do not typically have access to home treatment, which translates into prolonged hospital stays during surgeries and burdensome hospital visits to receive treatment following a bleed.
The Round Table kicked off with a presentation from Prof Paul Giangrande in which he stressed the importance of testing patients with a chromogenic assay to ensure correct diagnosis. The event continued with the compelling personal account of Mr William McCudden, a patient suffering from inhibitors. Mr McCudden recounted being diagnosed only in his early 30s and developing an inhibitor a few years ago following treatment received after a ski accident. As a mild haemophilia patient, Mr McCudden does not identify with the patient community as he does not see himself as sick. Nonetheless he feels concerned about not being able to access adequate treatment when travelling because non-specialist physicians are not so familiar with his condition. Mrs Olivia Romero-Lux (EHC Steering Committee Member) gave a presentation on studies carried out in Canada, Denmark and France on the knowledge of people with mild and moderate haemophilia about their condition. The studies reveal that most patients do not see themselves as sick and downplay the disease but in return they also face difficulties in getting access to the correct treatment because of lack of knowledge about their condition, infrequent contacts with treatment centres and not being able to tap into information resources provided by the patient community. The Association Française des Hémophiles (the EHC French National Member Organisation) is currently developing an outreach and educational programme to increase health literacy and empower people with mild and moderate haemophilia to take better control of their condition.
The second half of the event focused on clinical studies and scientific mechanisms involved in the development of inhibitors for people with mild and moderate haemophilia. Dr Karin Fijnvandraat (University of Amsterdam) and Dr Sébastien Lacroix-Desmazes (a researcher from the French INSRM) presented on these topics. The main findings of the lectures were that unlike for patients with severe haemophilia, where the risk of developing inhibitors is greater during the first 50 exposure days, people with mild and moderate haemophilia can develop inhibitors throughout their lifetime and the risk is strongly linked, amongst other factors, to the mutation of the FVIII gene. An average five per cent of these patients will develop inhibitors, although depending on the gene mutation the risk can vary as much as from two per cent to 60 per cent. Therefore correct testing and a personalised approach to the treatment of these patients are essential. The final presentation was given by Dr Axel Seuser (Centre for Prevention, Rehabilitation and Orthopaedics in Bonn) on the need to identify silent bleeds, i.e. non visible bleeds, early on and to give patients proper advice in terms of safe practice of sports. Dr Seuser stressed that although there is no hard clinical evidence, he and colleagues witnessed first-hand that the safe practice of sports in people with haemophilia can lead to a reduction of bleeds and preserve joints health. It is therefore essential to keep the haemophilia population active with low-impact activities.
All documents from the event can be accessed on the EHC website. A detailed report of the event will be published in the coming weeks. The next EHC Round Table will be held on 16 February 2016 and it will be on the topic of inhibitors.