EAHAD is keen to develop interactions between all members of the multidisciplinary team involved in care of patients with haemophilia.
For several years now, the Executive Committee of EAHAD has included the chair of the EAHAD Nurses Committee as an ex-officio representative, and this has been followed last year with the addition of the chair of the newly formed EAHAD Physiotherapists Committee.
*** Deadline extended to: 30 November 2016 ***
EAHAD is inviting its members to apply for two vacant spots on its Executive Committee.
Travel grants are available to junior physicians and scientists (35 years old or younger), PhD students, post-doctoral researchers, nurses, physiotherapists, and other allied healthcare professionals wishing to attend the EAHAD 2017 Congress taking place in Paris, France from 1-3 February.
The grants cover the registration fee and travel and accommodation expenses to attend the congress up to an amount of 1500 EUR. The award will be presented on-site at the congress. The award recipient must come in person to receive her/his grant (at the speakers’ desk, from 12:30 on Friday, 3 February 2017). No payment will be made before or after the Congress.
On 7 June, EAHAD in collaboration with the Helsinki University Central Hospital Coagulation Disorders Unit and with support from the World Federation of Hemophilia (WFH) Twinning Program, held a day-long multidisciplinary update meeting on for haemophilia healthcare professionals from the Baltic region. Thirty-eight participants attended the meeting including members of the multidisciplinary teams from nine centres treating bleeding disorders patients in Estonia, Finland, and Lithuania.
by Marie Katzerová, member of the EAHAD Physiotherapists Committee and physiotherapist from Czech Republic
At the beginning of August, around 50 people with haemophilia, their families, and healthcare professionals from Estonia gathered for a four-day summer camp in Värska, Estonia. Along with Prof Paul Giangrande (EHC) and Dr Klaus Ӧsterholm (Helsinki, Finland), I was invited to join in the summer camp to deliver educational sessions for the participants.
The prospective Rare Bleeding Disorders Database (PRO-RBDD) is continuing to collect data on patients with fibrinogen and factor XIII (FXIII) deficiencies using a prospective observational cohort design.
Recently the results of the analysis of patients with FXIII deficiency were presented at the Annual meeting of International Society of Thrombosis and Haemostasis-SSC held in Montpellier in May 2016. Results on 64 patients showed that FXIII coagulant activity is correlated with clinical severity defined as age at first bleeding, age at diagnosis and severity of bleeding history. In addition, the minimum hemostatic FXIII level that should be achieved to prevent spontaneous major bleeding was also reported.
Moreover, both yearly bleeding incidence and cumulative incidence was reduced in patients on prophylaxis compared with patients on on-demand therapy observed for a median follow up period of 528 days (IQR: 790-185). This allows us to strongly recommend prophylaxis in patients with FXIII deficiency to prevent bleeding episodes.
The second part of the project is focused on Fibrinogen deficiency and results on the prospective evaluation of 96 patients has been recently submitted to the upcoming America Society of Hematology congress.
Finally two external quality control assessment exercises of laboratory assays for fibrinogen and FXIII were also carried out. Results were shown during the Annual Congress of International Society of Thrombosis and Haemostasis held in Amsterdam in June 2013 and have been recently submitted for publication.
We invite new partners to join the project in order to enlarge our study populations on both Fibrinogen and FXIII deficiencies and to fulfil all gaps in the management of these two coagulation disorders.
For more information on how to join the project, you can visit the website http://eu.rbdd.org.
The EAHAD genetic variant database is designed for clinicians and scientists and is the most comprehensive global source of known causative mutations for haemophilia A and B and VWD. It is easy to access at www.eahad-db.org and provides a wealth of clinical and scientific information about the relevant genes. The ‘In Depth Mutation Analysis’ of each variant reveals the features of each mutation and predicts its consequences – included is a pictorial representation of a missense mutation site on the factor VIII molecule. It enables you to see how the mutation may produce its clinical phenotype. For those wishing to know more about evolutionary phylogeny of the genes there are displays of gene sequences from many animals ranging from zebrafish and chickens to gorillas!
Also available is a factor VII database at the same web address. A much enhanced version is at the final stages of development and we hope it will be available later this year. As there are two factor VII gene copies per cell, and because there are several polymorphisms associated with altered levels of plasma factor VII concentration, this has been a much more complex development than that for haemophilia A or B!
The arrangements for establishment of factors X and XI variant databases are on track and we are exploring the possibility of embarking on development of a fibrinogen database.
Please visit www.eahad-db.org and see how user-friendly the site is. We welcome feedback.
Last Friday, 24 June, following the referendum and the decision of a majority of citizens from the United Kingdom (UK) to leave the European Union (EU), we woke up in a different Europe that we neither expected nor hoped for. Besides the political, diplomatic, and economic consequences, the Brexit will have major implications for health care and medical research. These consequences were likely underestimated or even fully ignored by those who voted to leave the EU. This is certainly true for rare diseases such as haemophilia and it is imperative that decision makers now act responsibly to maintain the important developments that Europe has brought to the lives of patients. We would like to assure the rare bleeding disorder community including patients and healthcare professionals from across the EU and the UK that the European Association for Haemophilia and Allied Disorders (EAHAD) and the European Haemophilia Consortium (EHC) remain committed to adequately representing them, improving patients’ lives, and furthering scientific and medical research.read more…
Inhibitor development is the most serious complication of haemophilia treatment today and is known to occur in approximately 25% of previously untreated patients (PUPs) with severe haemophilia A. The causes of inhibitor development are multi-factorial and include genotype, family history, ethnicity, and the way haemophilia is treated. There has been a long debate as to whether recombinant clotting factor concentrates are associated with a higher risk of inhibitor development as compared to plasma-derived concentrates.