French national ressources and competence center for rare hemorrhagic diseases
The ressources and competence center for rare hemorrhagic diseases at Cochin hospital is dedicated to the care of patients with hemophilia, Willebrand’s disease and rare platelet disorders.
Depending on the pathology, patients benefit from specific management methods.
- Perinatal care is provided in close collaboration with the multidisciplinary perinatal diagnosis center (CPDPN) of the Port-Royal maternity hospital, which coordinates genetic counseling, pre/post-natal explorations and care by the teams of professor Goffinet’s department.
- Molecular diagnosis of hemophilia A and B is performed on site in a reference laboratory, the molecular genetics department (Pr Bienvenu, Dr Burin des Rosiers), which has been linked to the national GENOSTASE network since 2006. This laboratory is a member of the operational committee of the FranceCoag network, pilot of the NGS research action of the MHEMO network and member of the scientific council of the French Hemophilia Association (Association Française des Hémophiles).
- For the management of female hemorrhage, the medical gynecology department is called upon for the choice of hormonal treatments.
- The management of osteoarticular complications is carried out within the framework of a care network involving the rheumatology (Pr Avouac), orthopedic surgery (Pr Anract) and functional rehabilitation (Pr Rannou) teams.
This reference center is affiliated with the MHEMO rare diseases healthcare network and the EuroBloodNet european reference networks (ERN).
Keywords : Hemophilia, Von Willebrand, thrombopathy, constitutional hemorrhagic diseases, MHEMO rare diseases healthcare network
Medical team
Head of the center
Dr Natalie Stieltjes
MD
To make an appointment
The center is open from 9 a.m. to 5 p.m. every day with a telephone hotline from 5 p.m. to 9 a.m. and on weekends.
Consultations are held every morning from Monday to Friday (afternoons are reserved for scheduled care).
Multidisciplinary consultations in rheumatology take place every 15 days and in hepatology once a month.
Emergencies are handled by the center during opening hours and beyond by the emergency reception service.
The missions of the center are :
- care, i.e. management of hemorrhagic accidents and referral to the referring physician for follow-up and treatment of the consequences of these accidents
- diagnosis in conjunction with the haematology and genetics laboratories of the Cochin hospital
- systematic monitoring for the detection of infectious accidents, inhibitors in order to prevent hemorrhagic accidents and to adapt the prophylaxis
- patient therapeutic education by the physician or non-medical staff
- psychological follow-up of patients who require it
- the center’s expertise made available to the HAS (high health authority) and the ANSM (national drug safety agency)
- Hemophilia A and B
- Von Willebrand disease
- Fibrinogen deficiency
- Factor II deficiency
- Factor V deficiency
- Combined deficiency of factor V and factor VIII
- Factor VII deficiency
- Factor X deficiency
- Factor XI deficiency
- Factor XIII deficiency
- Congenital vitamin K-dependent coagulation factors deficiency
- Constitutional thrombopathy
- Constitutional thrombocytopenia
- Dr Natalie Stieltjes – Hematologist
- Dr Valérie Roussel-Robert – Hematologist
- Dr Sophie Combe – Hematologist
- Pr Michaela Fontenay – Medical biologist
- Dr Valérie Proulle – Medical biologist
- Dr Ladislas Capdevila – Junior medical biologist
- Nathalie Tropper – Nurse
- Dominique Magli-Barioz – Psychologist
- Hemophilia (2019)
- Von Willebrand disease (2021)
- Rare coagulation protein deficiencies (2021)
Therapeutic education is carried out in the form of individual educational diagnostic interviews at the patient’s request by doctors and nurses and in the form of sessions organized by the center’s doctors.
- Education program on the administration of antihemophilic factors to patients with severe hemophilia by parents of young children or patients themselves
Contact : Dr. Natalie Stieltjes
> Send an email
Location : Cochin hospital, Saint-Jacques building, 27 rue du Faubourg Saint-Jacques, 75014 Paris
RESEARCH
- Pharmacodynamics of eftrenonacog-alfa (rFIX-Fc) – Hématologie Cochin – Cohorte de 15 patients – Finalized
- Prospective follow-up of patients France-Coag registry – In progress
- Biological monitoring of hemophilia A treatment with Hemlibra (emicizumab-kxwh) – In progress
EDUCATION
- UD Thrombosis and haemorrhage : from biology to the clinic
Université de Paris
2021
– The Hemarthrosis-Simulating Knee Model: A Useful Tool for Individualized Education in Patients with Hemophilia (GEFACET Study).
le Doré S, Grinda N, Ferré E, Roussel-Robert V, Frotscher B, Chamouni P, Meunier S, Bayart S, Dolimier E, Truong-Berthoz F, de Raucourt E.
J Blood Med. 2021 Mar 9;12:133-138. doi: 10.2147/JBM.S280032. eCollection 2021. PMID: 33727876
– Compliance with Early Long-Term Prophylaxis Guidelines for Severe Hemophilia A.
Saultier P, Guillaume Y, Demiguel V, Berger C, Borel-Derlon A, Claeyssens S, Harroche A, Oudot C, Rafowicz A, Trossaert M, Wibaut B, Vinciguerra C, Boucekine M, Baumstarck K, Meunier S, Calvez T, Chambost H; FranceCoag PUPs / CoMETH Prophylaxis Study Group; Hemophilia Treatment Centers of Paris-Necker.
J Pediatr. 2021 Jul;234:212-219.e3. doi: 10.1016/j.jpeds.2021.02.071. PMID: 33676933
– Coagulation Characterization of Prothrombin 20209C > T Variant: About 27 New Cases.
Jourdi G, Lobies S, Kosmider O, Duchemin J, Audureau E, Conard J, Mazoyer E, Horellou MH, Gouin-Thibault I, Flaujac C, Fontenay M.
Thromb Haemost. 2021 Feb;121(2):246-249. doi: 10.1055/s-0040-1716541. PMID: 32932543
– Pharmacodynamics of eftrenonacog-alfa (rFIX-Fc) in severe hemophilia B patients: A real-life study.
Atsou S, Furlan F, Duchemin J, Ellouze S, Sourdeau É, Launois A, Roussel-Robert V, Stieltjes N, Combe S, Fontenay M, Curis E, Jourdi G.
Eur J Pharmacol. 2021 Jan 15;891:173764. doi: 10.1016/j.ejphar.2020.173764. PMID: 33249076
– Effectiveness and safety of hFVIII/VWF concentrate (Voncento®) in patients with inherited von Willebrand disease requiring surgical procedures: the OPALE multicentre observational study.
Rugeri L, d’Oiron R, Harroche A, Proulle V, Mourey G, De Raucourt E, Desprez D, Baikian NI, Petesch BP, Borel-Derlon A, Combe S, Frotscher B, Hassoun A, Catovic H, Bracquart D, Trossaërt M.
Blood Transfus. 2021 Mar;19(2):152-157. doi: 10.2450/2020.0246-20. PMID: 33263522
– Circulating Von Willebrand factor and high molecular weight multimers as markers of endothelial injury predict COVID-19 in-hospital mortality.
Aurélien Philippe, Richard Chocron, Nicolas Gendron, Olivier Bory, Agathe Beauvais, Nicolas Peron, Lina Khider, Coralie L Guerin, Guillaume Goudot, Françoise Levasseur, Christophe Peronino, Jerome Duchemin et al.
Angiogenesis, 2021 Aug, PMID: 33449299 PMCID: PMC7809553 DOI: 10.1007/s10456-020-09762-6
2019
– Vitamin K antagonism impairs the bone marrow microenvironment and hematopoiesis.
Verma, D ; Kumar, R ; Pereira, RS ; Karantanou, C ; Zanetti, C ; Minciacchi, VR & al
Blood, 2019 Jul 18, PMID: 31003999 PMCID: PMC7022447 DOI: 10.1182/blood.2018874214
– Lupus anticoagulant diagnosis in patients receiving direct oral FXa inhibitors at trough levels: A real-life study.
Gay, J ; Duchemin, J ; Imarazene, M ; Fontenay, M ; Jourdi, G
Int J Lab Hematol, 2019 Dec, PMID: 31487115 DOI: 10.1111/ijlh.1310
– Effect of rivaroxaban and dabigatran on platelet functions: in vitro study.
Jourdi, G ; Bachelot-Loza, C ; Mazoyer, E ; Poirault-Chassac, S ; Duchemin, J ; Fontenay, M & al
Thromb Res, 2019 Nov, PMID: 31678711 DOI: 10.1016/j.thromres.2019.10.007
– FranceCoag: a 22-year prospective follow-up of the national French cohort of patients with inherited bleeding disorders.
Doncarli, A ; Demiguel, V ; Guseva Canu, I ; Goulet, V ; Bayart, S ; Calvez, T & al
Eur J Epidemiol, 2019 May, PMID: 30515664 DOI: 10.1007/s10654-018-0468-7
2018
– Postauthorization safety study of Clottafact() , a triply secured fibrinogen concentrate in acquired fibrinogen deficiency: a prospective observational study.
Négrier C, Ducloy-Bouthors AS, Piriou V, De Maistre E, Stieltjes N, Borel-Derlon A, Colson P, Picard J, Lambert T, Claeyssens S, Boileau S, Bertrand A, André MH, Fourrier F, Ozier Y, Sié P, Gruel Y, Tellier Z.
Vox Sang. 2018 Feb;113(2):120-127. doi: 10.1111/vox.12624. PMID: 29238971
2017
– Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.
Jourdy Y, Chatron N, Fretigny M, Carage ML, Chambost H, Claeyssens-Donadel S, Roussel-Robert V, Negrier C, Sanlaville D, Vinciguerra C.
Haemophilia. 2017 Jul;23(4):e316-e323. doi: 10.1111/hae.13218. PMID: 28475226
– Natural history and clinical characteristics of inhibitors in previously treated haemophilia A patients: a case series.
Iorio A, Barbara AM, Makris M, Fischer K, Castaman G, Catarino C, Gilman E, Kavakli K, Lambert T, Lassila R, Lissitchkov T, Mauser-Bunschoten E, Mingot-Castellano ME, Ozdemir N, Pabinger I, Parra R, Pasi J, Peerlinck K, Rauch A, Roussel-Robert V, Serban M, Tagliaferri A, Windyga J, Zanon E.
Haemophilia. 2017 Mar;23(2):255-263. doi: 10.1111/hae.13167. PMID: 28205285
2016
– Post-authorization safety study of Clottafact() , a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study.
Négrier C, Rothschild C, Borg JY, Lambert T, Claeyssens S, Sanhes L, Stieltjes N, Bertrand A, André MH, Sié P, Gruel Y, Tellier Z.
Vox Sang. 2016 Nov;111(4):383-390. doi: 10.1111/vox.12424. PMID: 27583698
– Is there a role for antiangiogenic therapy, bevacizumab, in the treatment of recurrent digestive bleeding due to angiodysplasia in Glanzmann’s thrombasthenia?
Barré A, Dréanic J, Flaujac C, Roussel-Robert V, Stieltjes N, Combe-Marzelle S, Coriat R, Horellou M.
Haemophilia. 2016 Jul;22(4):e347-8. doi: 10.1111/hae.12977. PMID: 27352634 No abstract available.
– Rituximab as first-line therapy for acquired haemophilia A: a single-centre 10-year experience.
Rossi B, Blanche P, Roussel-Robert V, Berezné A, Combe S, Coppo P, Guillevin L, Le Jeunne C, Mouthon L, Ounnoughene N, Stieltjes N, Groh M.
Haemophilia. 2016 Jul;22(4):e338-41. doi: 10.1111/hae.12973. PMID: 27329210
– A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Veyradier A, Boisseau P, Fressinaud E, Caron C, Ternisien C, Giraud M, Zawadzki C, Trossaert M, Itzhar-Baïkian N, Dreyfus M, d’Oiron R, Borel-Derlon A, Susen S, Bezieau S, Denis CV, Goudemand J; French Reference Center for von Willebrand disease.
Medicine (Baltimore). 2016 Mar;95(11):e3038. doi: 10.1097/ MD. 0000000000003038. PMID: 26986123
2015
– EQOFIX: a combined economic and quality-of-life study of hemophilia B treatments in France.
Polack B, Calvez T, Chambost H, Rothschild C, Goudemand J, Claeyssens S, Borel-Derlon A, Bardoulat I, Maurel F, Woronoff-Lemsi MC; EQOFIX Study Group.
Transfusion. 2015 Jul;55(7):1787-97. doi: 10.1111/trf.13016. PMID: 25652955 Clinical Trial.
– Prevention and treatment of atherosclerosis in haemophilia – how to balance risk of bleeding with risk of ischaemic events.
de Raucourt E, Roussel-Robert V, Zetterberg E.
Eur J Haematol. 2015 Feb;94 Suppl 77:23-9. doi: 10.1111/ejh.12498. PMID: 25560791
2014
– Recombinant factor VIII products and inhibitor development in previously untreated boys with severe hemophilia A.
Calvez T, Chambost H, Claeyssens-Donadel S, d’Oiron R, Goulet V, Guillet B, Héritier V, Milien V, Rothschild C, Roussel-Robert V, Vinciguerra C, Goudemand J; FranceCoag Network.
Blood. 2014 Nov 27;124(23):3398-408. doi: 10.1182/blood-2014-07-586347. PMID: 25253771
« Coagulation Intervention Brigade » game
CIB is a virtual reality mobile application developed with Pr Négrier and Dr Rugeri of the CRTH in Lyon specifically for patients with coagulation factor deficiencies.
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At Cochin hospital, the ressources and competence center for rare hemorrhagic diseases in brief …
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