Session 1 : Fibrinogen deficiencies

Transcription

1 13 th Workshop on Thrombosis and Paediatric Haemostasis Marseille, 13 th October 2010 Session 1 : Fibrinogen deficiencies Clinical, biological and therapeutic concerns : P De Moerloose, Geneva Genetic concerns : M Stoll, Münster 3 Cases of afibrinogenemia : S Meunier, Lyon - C Berger, Saint-Etienne Afibrinogenemia in FranceCoag Network: H Chambost, Marseille

2 in FranceCoag Network 13 th Workshop on Thrombosis and Paediatric Haemostasis Marseille, 13 th October 2010 H. Chambost, Chair of FranceCoag Steering Committee V. Milien, Research manager Haemophilia Care Centre, Children s Hospital La Timone Mediterranean University, Marseille F. Suzan, V. Demiguel, A Doncarli, Coordinating Centre FranceCoag, National Institute for Public Health Surveillance, Saint-Maurice on behalf of the FranceCoag Network Group

3 4 main objectives of FranceCoag to get exhaustive information on the geographical distribution, the characteristics and the evolution of the population affected by haemorrhagic diseases due to hereditary hemorrhagic diseases except platelet disorders (haemophilia, VWD and rare bleeding disorders) managed in specialized centres; to be part of a sanitary surveillance allowing fast investigation in case of suspicion of a new infectious agent transmitted by preparations of coagulation factors; to improve the knowledge on the risk factors for inhibitor development in children with severe haemophilia and the treatment of inhibitors in these patients; to assess the feasibility, adherence, tolerance and impact of standardized prophylaxis regimens, particularly the early prophylaxis in children with severe haemophilia.

4 Inclusion Criteria Disease Factor Inclusion criteria Haemophilia FVIII, IX < 30% Allied disorders FI (afibrinogenemia) < 0.1g/l FII, V, VII, X, XIII < 10% FXI < 20% Willebrand Type 1 & Type 3 VWF:Ag < 30% Types 2 2N VWF:RCo / VWF:Ag or VWF:CB / VWF:Ag FVIII:C / VWF:Ag < 0.7 < 0, patients included in 37 haemophilia centres

5 General Information Demographic items: Gender, date of birth, residence area, date and cause of death Clinical information: Disease, date and circumstances of diagnosis Inhibitor history History of blood borne infections (HBV, HCV, HIV) Life-threatening and serious bleedings, surgical procedures Replacement therapy : type and amount of product (IU & CED), replacement regimen (prophylaxis, immune tolerance) Adverse events, including EUHASS items Comorbidities HCV treatments Biological information: factor level, inhibitor, A biobank collection for cells and plasma

6 Characteristics of the Patients Gender 35 patients Sex ratio M/F : M F 2.5 to 62 years old (median 24.6) Classe of age y 6-11 y y > 18 y

7 Age and circumstances of diagnosis Diagnosis at 4.5 months (median) from birth to 16 years (p75 : 3 years) Circumstances of diagnosis Family History Bleeding Fortuitous UKN

8 Clinical concerns 3.8 years follow-up / patient (median; y) py cohort Events Life-threatening bleedings (n = 5) Surgical procedures (n = 22) No delivery nor pregnancy Treatment Replacement therapy Prophylaxis

9 Life-threatening bleeds 5 events (3 post-trauma, 4 in children) 3 Intracranial haemorrhages (ICH) 2 post-trauma ICH at 11 months and 8.8 years 1 spontaneous ICH at 59 years 2 other : Post-trauma intraperitoneal bleeding (8.9 y) Gingival bleeding with acute anaemia (1.8 y)

10 Surgical Procedures 22 Procedures 7 dental surgery (3 children of 5.8, 9.1 and 13.8 y) 9 central venous devices (8 in children from 10 d to 9.6 y) 6 other (1 child for a ventricular drainage at 11m) Dental surgery CVD Other

11 Treatment Replacement therapy At least one treatment in the life for 34 patients 33 patients received fibrinogen during the FranceCoag follow-up (2048 CED; g) 33 from LFB (3 Fibrinogen LFB, 33 Clottagen, 2 Clottafact) 5 from Aventis / CSL (Haemocomplettan) 4 other Prophylaxis Reported for 15 patients during the follow-up

12 Conclusion Afibrinogenemia and FranceCoag FranceCoag is the French Registry for haemophilia and VWD, but also for rare bleeding disorders such as afibrinogenemia Even if some efforts are necessary to get exhaustiveness, FranceCoag represents a substantial cohort of patients treated for afibrinogenemia This database might be useful to enhance the knowledge, for instance to draw genotype/ phenotype correlations Genotypic data that are already registered for Pups with haemophilia should be collected in a near future for all the patients in FranceCoag Network

13 Acknowledgements to all the members of FranceCoag Network