Centre de référence des maladies vasculaires rares

2012

Dr M Frank — 2013-03-12T00:21:11Z

1. Premier symposium international sur le syndrome d'Ehlers-Danlos

Du 8 au 11 septembre 2012 s'est tenu à Gand (Belgique) le premier symposium international sur les syndromes d'Ehlers-Danlos. Ce congrès a permis de réunir pour la première fois depuis la dernière conférence de consensus de Villefranche (1994), de nombreux spécialistes et experts du monde entier, ainsi que les représentants des associations de patients. En effet, les importants progrès dans le diagnostic, la meilleure caractérisation des nombreuses formes cliniques de SED et la nécessité urgente de la mise au point de nouveaux traitements ont guidé l'organisation de cette réunion d'experts.

2. Bourse de Recherche Espoir, Lauréate 2012

Le Dr Erika Faivre, étudiante en thèse de sciences à l'unité Inserm U970, a remporté la bourse recherche espoir 2012 de la fondation Groupama pour la santé pour son projet de thèse sur la mise au point de thérapeutiques innovantes dans le syndrome d'Ehlers-Danlos vasculaire. Ce prix permettra de financer son projet de recherche sur une durée de trois ans, et permettra de mieux comprendre l'effet bénéfique du céliprolol au cours du SED vasculaire et de tester de nouvelles voies thérapeutiques disponibles à court terme. La proximité de l'unité de recherche fondamentale avec le centre national de référence des maladies vasculaires rares de l'HEGP, APHP, Paris permettra une approche translationnelle directe des modèles animaux de la maladie à l'Homme.

Publications du Centre de Référence et de ses Partenaires Associés.

Dr M Frank — 2013-03-08T13:45:31Z

Publications scientifiques dans des revues nationales et internationales, depuis 2004

1. Moceri P, Albuisson J, Saint-Faust M, Casagrande F, Giuliano F, Devos C, Benoit P, Hugues N, Ducreux D, Cerboni P, Dageville C, Jeunemaitre X. Arterial tortuosity syndrome : early diagnosis and association with venous tortuosity. Journal of the American College of Cardiology. 2013 ;61 : 783.

2. Zuily S, Angioi K, Fauret AL, Golmard L, Saadi L, Huttin O, Anxionnat R, Evon P, Marie PY, Jeunemaitre X, Wahl D. Severe and diffuse arterial lesions in a patient with pseudoxanthoma elasticum. Journal of the American College of Cardiology. 2012 ;59 : 1991.

3. Savard S, Steichen O, Azarine A, Azizi M, Jeunemaitre X, Plouin PF. Association between 2 angiographic subtypes of renal artery fibromuscular dysplasia and clinical characteristics. Circulation. 2012 ;126 : 3062-3069.

4. Salem JE, Bruguiere E, Iserin L, Guiochon-Mantel A, Plouin PF. Hypertension and aortorenal disease in Alagille syndrome. Journal of hypertension. 2012 ;30 : 1300-1306.

5. Saadoun D, Lambert M, Mirault T, Resche-Rigon M, Koskas F, Cluzel P, Mignot C, Schoindre Y, Chiche L, Hatron PY, Emmerich J, Cacoub P. Retrospective analysis of surgery versus endovascular intervention in Takayasu arteritis : a multicenter experience. Circulation. 2012 ;125 : 813-819.

6. Persu A, Touze E, Mousseaux E, Barral X, Joffre F, Plouin PF. Diagnosis and management of fibromuscular dysplasia : an expert consensus. European journal of clinical investigation. 2012 ;42 : 338-347.

7. Ong KT, Plauchu H, Peyrol S, Roux E, Errazuriz E, Khau Van Kien P, Arbeille B, Gaulier A, Georgescou G, Collignon P, Germain DP, Gaveau MN, Perdu J, Laurent S, Bruneval P, Boutouyrie P. Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome. Virchows Arch. 2012 ;460 : 637-649.

8. Mirault T, Emmerich J. How to manage Takayasu arteritis ? Presse Med. 2012 ;41 : 975-985.

9. Harakalova M, van der Smagt J, de Kovel CG, Van't Slot R, Poot M, Nijman IJ, Medic J, Joziasse I, Deckers J, Roos-Hesselink JW, Wessels MW, Baars HF, Weiss MM, Pals G, Golmard L, Jeunemaitre X, Lindhout D, Cuppen E, Baas AF. Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. Eur J Hum Genet. 2012.

10. Ferre FC, Frank M, Gogly B, Golmard L, Naveau A, Cherifi H, Emmerich J, Gaultier F, Berdal A, Jeunemaitre X, Fournier BP. Oral phenotype and scoring of vascular Ehlers-Danlos syndrome : a case-control study. BMJ open. 2012 ;2 : e000705.

11. Stalla-Bourdillon A, Dureau P, Adamou K, Tassin M, Franck M, Fischer C, Mercier FJ. Scheduled caesarean delivery in a patient with vascular type Ehlers-Danlos syndrome. Annales francaises d'anesthesie et de reanimation. 2012 ;31 : 265-266.

12. Pasquini M, Trystram D, Oppenheim C, Plouin PF, Touze E. Cervical and intracranial fibromuscular dysplasia. Presse Med. 2011 ;40 : 713-719.

13. Ong KT, Perdu J, De Backer J, Bozec E, Collignon P, Emmerich J, Fauret AL, Fiessinger JN, Germain DP, Georgesco G, Hulot JS, De Paepe A, Plauchu H, Jeunemaitre X, Laurent S, Boutouyrie P. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome : a prospective randomised, open, blinded-endpoints trial. Lancet. 2011 ;376 : 1476-1484.

14. Khalife T, Alsac JM, Lambert M, Messas E, Duong Van Huyen JP, Bruneval P, Farahmand P, Julia P, Fabiani JN. Diagnosis and surgical treatment of a Takayasu disease on an abdominal aortic dissection. Annals of vascular surgery. 2011 ;25 : 556 e551-555.

15. Frank M, Denarie N. Vascular Ehlers-Danlos syndrome. La Revue du praticien. 2011 ;61 : 453-455.

16. Trinquart L, Mounier-Vehier C, Sapoval M, Gagnon N, Plouin PF. Efficacy of revascularization for renal artery stenosis caused by fibromuscular dysplasia : a systematic review and meta-analysis. Hypertension. 2010 ;56 : 525-532.

17. Touze E, Oppenheim C, Trystram D, Nokam G, Pasquini M, Alamowitch S, Herve D, Garnier P, Mousseaux E, Plouin PF. Fibromuscular dysplasia of cervical and intracranial arteries. Int J Stroke. 2010 ;5 : 296-305.

18. Couade M, Pernot M, Prada C, Messas E, Emmerich J, Bruneval P, Criton A, Fink M, Tanter M. Quantitative assessment of arterial wall biomechanical properties using shear wave imaging. Ultrasound in medicine & biology. 2010 ;36 : 1662-1676.

19. Azizi M, Boutouyrie P, Bura-Riviere A, Peyrard S, Laurent S, Fiessinger JN. Thromboangiitis obliterans and endothelial function. European journal of clinical investigation. 2010 ;40 : 518-526.

20. Puechal X, Fiessinger JN. Thromboangiitis obliterans or Buerger's disease : challenges for the rheumatologist. Rheumatology (Oxford, England). 2007 ;46 : 192-199.

21. Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X. Fibromuscular dysplasia. Orphanet journal of rare diseases. 2007 ;2 : 28.

22. Perdu J, Boutouyrie P, Bourgain C, Stern N, Laloux B, Bozec E, Azizi M, Bonaiti-Pellie C, Plouin PF, Laurent S, Gimenez-Roqueplo AP, Jeunemaitre X. Inheritance of arterial lesions in renal fibromuscular dysplasia. Journal of human hypertension. 2007 ;21 : 393-400.

23. Perdu J, Boutouyrie P, Lahlou-Laforet K, Khau Van Kien P, Denarie N, Mousseaux E, Sapoval M, Julia P, Zinzindohoue F, Touraine P, Dumez Y, Trystram D, Vignal-Clermont C, Gimenez-Roqueplo AP, Jeunemaitre X, Fiessinger JN. Vascular Ehlers-Danlos syndrome. Presse Med. 2006 ;35 : 1864-1875.

24. Perdu J, Champion K, Emmerich J, Fiessinger JN. Microvascular involvement in pseudoxanthoma elasticum. Capillaroscopic findings. Presse Med. 2004 ;33 : 518-521.

25. Boutouyrie P, Germain DP, Fiessinger JN, Laloux B, Perdu J, Laurent S. Increased carotid wall stress in vascular Ehlers-Danlos syndrome. Circulation. 2004 ;109 : 1530-1535.

Ouvrages Médicaux

Elastopathies. Frank M. Avril 2011. Traité de Médecine Vasculaire. Tome 1 chapitre 16. Ed. Masson

Maladies Rares des Vaisseaux. J. Emmerich, J.-J. Mourad, J. Perdu, J.-L. Rény 2005. Collection STV. Ed. John Libbey Eurotext. 197 pages

Clinical presentation

jerome — 2013-01-14T10:19:05Z

What is Takayasu disease?

Takayasu's arteritis is a vasculitis affecting the aorta (Figure 1, # 34) and the initial portion of all its branches mainly the arteries of the kidneys (Figure 1, # 31), the root of the arteries of the legs (called the iliac arteries, Figure 1, No. 13), the root the arteries of the arms (called subclavian arteries, Figure 1, # 38) and neck arteries (carotid arteries, Figure 1, No. 3). Inflammation of the aorta (aortitis) causes circumferential thickening of the arterial wall, narrowing of its lumen and consequent reduction of the flow of oxygenated blood to various organs when the narrowing is important. The cause of Takayasu's arteritis remains unknown so it is often described as a "nonspecific aorto-arteritis". Infectious or immunological causes are discussed, but Takayasu's arteritis is not in any way contagious .


01. Figure 1: Schéma anatomique des artères.

What are the symptoms of Takayasu disease?

Patients may experience symptoms such as non-specific fever, joint pain, night sweats, fatigue, unexplained weight loss or sometimes painful red nodules on the legs (called erythema nodosum). Sometimes arteries can be painful. Ocular involvement is also possible. All these signs are found in many other diseases, but this is their occurrence in a woman under 40 and their association with elements that are suspect of arterial disease (such as hypertension, blood pressure different in both arms or limb cramps occurring during an effort) that allows to suspect Takayasu's arteritis. Tests are then carried out to highlight the inflammation of the aorta and to ensure that aortitis has no other cause. Most often, the patient only feels the consequences of arterial irrigation insufficiency due to arteries narrowing. When the kidney arteries are narrowed (said arterial stenosis) hypertension occurs (Picture 1, black arrows show the narrowing of the renal arteries). When an artery of the root of the leg is partially or completely clogged, the patient may experience difficulty walking (Picture 1, black arrow shows the right iliac artery while the red arrow shows where the left iliac artery should normally be visualized by arteriography, the red dots define the path of the left iliac artery as it should have been displayed if it were not occluded, Picture 1). Sometimes, the arteries are dilated and it's called an aneurysm.

02. Picture 1 : aortic arteriography


02. Image 1

How is Takayasu disease diagnosed?

The diagnosis of Takayasu's arteritis is most often based on the combination of aorta or its major branches vasculitis in a young woman. Criteria are used for this. Microscopic examination of the wall of the aorta (Picture 2) is no longer necessary with modern imaging means. It is important to note that doctors systematically seek another cause of inflammation of the aorta before diagnosing Takayasu's arteritis.

Examinations usually performed are:

• A blood test that may reflect the disease activity when inflammatory markers are high (erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP)).

• examinations of the arteries to visualize any narrowing or aneurysms, either by:

doppler ultrasound study,

CT scan (also called computerized tomography): This exam will be X-ray radiographs section after injecting a contrast medium. Precautions should be taken if you have allergy to iodine, diabetes, renal failure or if you are pregnant. The CT scan can also provide clues about the disease activity even when the blood exam is normal.

a magnetic resonance angiography: This ecam does not use iodinated and can also view the vessels.

a TEP-scan can provide information on the evolving nature of the disease when other tests are in default.

angiography: after a local anesthesia, the radiologist inserts a catheter into an artery in the groin and injects a contrast medium to make accurate X-ray radiographs. During this examination, it may sometimes be required to achieve a dilation of a narrowed artery through a balloon (ie angioplasty), which again allows the oxygenated blood reaching organs, which were low irrigated, and therefore symptoms to improve.


03. Image 2: Aspect de la paroi de l'aorte au microscope. La flèche indique une cellule "géante" caractéristique de la maladie.

What is the treatment of Takayasu disease?

In the initial phase of inflammation, the doctor prescribes cortisone for several months. It is always associated with a diet to prevent diabetes and a supplementation with calcium and vitamin D to prevent osteoporosis. The dose is tapered very gradually, depending on the results of blood tests and vascular tree exams. The treatment usually lasts 1-2 years in total. When cortisone is not sufficient to control the disease, an immunosuppressive drug, such as methotrexate, is sometimes necessary. When stenosis persist which hinder the patient, angioplasty or more rarely surgery can be performed.

Patient follow-up during Takayasu disease

The inflammation is regularly controlled by blood tests (ESR, CRP) and / or vascular tree imaging. Is essential to look for the occurrence of complications of treatment with cortisone as diabetes, osteoporosis or high blood pressure by regular consultations. Elevation of blood pressure should always lead the doctor to search for re-narrowing of the renal arteries. Blood pressure should always be measured in both arms (and even legs) because it can be artificially reduced in case of narrowing of the subclavian arteries (Figure 1, # 13, # 38).

• In our national referral centre for rare vascular diseases, care and follow-up of patients with thromboangitiis obliterans is multidisciplinary and involves several specialized physicians.

For an outpatient visit in our clinic, please refer to the How to consult section.

Welcome

jerome — 2013-01-09T20:12:51Z

The French National Referral Centre for Rare Vascular Diseases has been formally created in July 2006 and is financed by a French governmental plan for improving care, research and treatment of orphan diseases. Our centre is focusing its expertise on care of following rare diseases: vascular Ehlers-Danlos syndrome (or type IV), fibromuscular dysplasia, thromboangiitis obliterans (Buerger's disease), Takayasu disease, inherited or primary lymphedema and familial bicuspid aortic valves.

Clinical presentation

jerome — 2013-01-07T18:44:03Z

What is thromboangiitis obliterans?

Buerger's disease, or thromboangiitis obliterans, is a vasculitis, meaning an inflammatory disease of the arterial (and venous) wall. This inflammation causes arteries to occlude and thus any organs (typically limbs) depending on the blood flow of these clogged arteries (figure 1) are subject to ischemia, manifesting by excruciating pain, non-healing ulcers and sometimes even necrosis requiring partial or complete amputation of the diseased limb. The evolution of the disease is characterized by acute flare-ups and long remission periods between these exacerbation phases.

Figure 1: Microscopic view of an artery during thromboangiitis obliterans showing the mechanism of arterial occlusion : the lumen of the artery (normally empty) is occluded by a blood clot (center).

Thromboangiitis obliterans does typically occur in small peripheral arteries of the legs and arms (figure 2, arteries 19 to 28), but may extend to more proximal arteries without appropriate treatment. As arterial occlusion is initially peripheral, progression of the disease will affect the arteries immediately above the occluded ones and will thus aggravate the ischemia of the diseased limb.

The exact cause of Buerger's disease is unknown. However, there is a strong relationship between the occurence of Buerger's disease and tobacco : it almost exclusively occurs in active smokers, and it may almost always be silenced by complete eviction of any forms of tobacco abuse.

Thromboangiitis obliterans was initially thought to almost exclusively occur in young adult men. Yet due to evolving smoking habits in the last decades in western countries, an increasing number of women smokes, and develops Buerger's disease: hence up to 25% of new cases are diagnosed in women.

Annother important characteristic of the disease is the young age of patients: thromboangiitis almost always occurs before the age of 40 years.

Figure 2: Human arterial tree

What are the symptoms of thromboangiitis obliterans?

Ischemia of the lower limbs is the most common presenting symptom. Claudication of the foot is very evocative of Buerger's disease and manifests by a feeling of tiredness in the foot on exertion, persistent cramp or squeezing pain involving the sole of the foot.

The upper limbs are also very frequently involved, manifesting sometimes by a Raynaud's phenomenon, more often by a painful digital ulceration that does not heal.

Migrating phlebitis Superficial thrombophlebitis is often present in patients with thromboangitiis obliterans. It manifests acutely as red, raised, slightly indurated and tender subcutaneous cords. Typically, phlebitis "migrate", involving simultaneously and/or consecutively the upper and lower limbs. These superficial venous thrombosis occur only during the acute phase of the disease.

Joint involvement Inflammation of isolated joints may occur, but these symptoms precede the occlusive phase of the disease (arteries) by many years.

How is thromboangiitis obliterans diagnosed?

The diagnosis of Buerger's disease is difficult since there is no specific blood test or diagnostic examination that may formally establish the diagnosis. Hence, diagnosis is made by 1) excluding other inflammatory diseases that may involve arteries, 2) by clinical diagnostic criteria and 3) by invasive imaging (angiography).

Consequently, the diagnosis of thromboangiitis obliterans often requires a short hospital stay during which following examinations will be done:

• a blood sample for detection of inflammation, immune abnormalities and coagulation disorders,

• an angio-CT scan of the aorta and an echography of the heart, looking for defects that may cause arterial embolism,

• an angiography of the lower and/or upper limbs depending on the territories involved. This examination, although it is invasive, is crucial to the diagnosis of Buerger's disease, since it very precisely shows the arteries and the mechanism of arterial occlusion. A typical aspect of Buerger's disease are "corkscrew" collaterals (figure 3) that bypass occluded native arteries. Arteries immediately above occluded segments are typically normal.

Figure 3: Angiogram of the left foot in a patient with thromboangiitis obliterans (lateral projection). Native arterial bed is occluded. Numerous collaterals have developed to bypass the arterial occlusions. Amongst the collaterals, some are very tortuous, commonly described to have a "corkscrew" shape.

What is the treatment of Buerger's disease?

There is no treatment capable of curing Buerger's disease, but the disease may be silenced by immediate and definite cessation of any forms of tobacco (and cannabis) abuse. Thus amputation may be avoided. Conversely, taking-up even minor smoking may trigger new flare-ups even after years of cessation, which may lead to novel ulcerations and amputations.

When ulcers are present, intensive pain management is necessary in order to allow careful local care and dressings, which are often prolonged and necessary to ultimately achieve wound healing.

A specific psychological support may be of particular interest because of the intense chronic pain of the lesions and to support tobacco cessation, which may be particularly difficult.

• In our national referral centre for rare vascular diseases, care and follow-up of patients with thromboangitiis obliterans is multidisciplinary and involves several specialized physicians.

For an outpatient visit in our clinic, please refer to the How to consult section.

Test génétique pour le syndrome d'Ehlers-Danlos vasculaire

Dr M Frank — 2013-01-07T12:24:29Z

Vous êtes généticien, médecin vasculaire, cardiologue ou pédiatre et vous souhaitez effectuer une demande de diagnostic génétique pour le syndrome d'Ehlers-Danlos vasculaire.

La procédure de demande de diagnostic de SED vasculaire se déroule en deux temps

1) Un dossier de demande de test génétique doit être envoyé au laboratoire de génétique de l'HEGP, APHP, 20-40 rue Leblanc, 75908 Paris Cedex 15 comprenant :
la fiche de renseignements cliniques

l'arbre généalogique de votre patient sur 3 niveaux : parents, fratries et enfants si applicable
un compte-rendu de consultation ou d'hospitalisation si disponible
tout résultat ou examen complémentaire que vous jugerez utile.

Ce dossier sera présenté lors d'une réunion pluridisciplinaire hebdomadaire réunissant les biologistes et les médecins du centre de référence des maladies vasculaires rares de l'HEGP.

2) Dès que la demande de test a été discutée, un courrier (ou e-mail) vous est adressé pour vous informer des conclusions du comité multidisciplinaire et pour lancer le cas échéant la procédure de test.

Dans certaines situations spécifiques et d'urgence cette procédure peut être accélérée sur appel téléphonique du praticien demandeur.

Bien entendu, tout patient suspect d'être atteint du syndrome d'Ehlers-Danlos vasculaire peut également être adressé au centre pour un avis clinique et/ou des explorations vasculaires complémentaires.

Echantillon biologique : Le prélèvement consiste en 3 (ou 4) tubes de 5-7 mL de sang total sur EDTA à envoyer par courrier express à température ambiante à l'adresse ci-dessous.

Adresse : Laboratoire de Génétique Hôpital Européen Georges Pompidou 20-40 rue Leblanc 75908 Paris Cedex 15

Téléphone laboratoire : 01.56.09.38.40

Le prélèvement doit obligatoirement être accompagné d'un consentement éclairé signé par le patient et le médecin prescripteur.

Un bon de commande pour la facturation doit accompagner toute demande extérieure à l'AP-HP.

Le délai normal de rendu des résultats est de 3 à 6 mois pour les cas index et de 1 à 2 mois pour les apparentés.

Contacts en cas d'urgence médicale

Dr M Frank — 2009-02-25T10:07:37Z

A la disposition des médecins et des patients

En cas d'urgence et en dehors heures d'ouverture du secrétariat du centre, vous pouvez téléphoner au 01 56 09 50 40 (répondeur avec les coordonnées des médecins du centre de référence) ou au 01 56 09 30 83 où serez mis en contact avec un médecin d'astreinte du service de Médecine Vasculaire de l'Hôpital Européen Georges Pompidou.

Centres de compétence régionaux pour les maladies vasculaires rares

Dr M Frank — 2009-02-16T09:13:33Z

Les centres de compétence participent à l'ensemble des missions qui ont été confiées au centre de référence. Ils permettent une prise en charge de proximité pour les patients atteints d'une maladie vasculaire rare.

Les centres de compétence des maladies vasculaires rares et les pathologies respectives pour lesquelles ils proposent une prise en charge sont listés par département.

Bouches-du-Rhône

Unité d'Hypertension Artérielle
Dr Silhol
Hôpital la Timone
Boulevard Jean Moulin
13385 Marseille Cedex 5
Tél : 04 91 38 63 99
Fax : 04 91 38 64 70
Spécialisation :
. Fibrodysplasie

Calvados

Service de Médecine Vasculaire
Dr Le Hello
Hôpital de la côte de nacre
Avenue de la côte de nacre
14033 Caen Cedex
Tél : 02 31 06 49 05
Fax : 02 31 06 51 65
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Fibrodysplasie
. Maladie de Takayasu
. Maladie de Buerger
. Bicuspidie aortique familiale
. Lymphoedèmes congénitaux

Finistère

Service de Médecine Vasculaire
Dr Bressolette
CHU de Brest
Boulevard Tanguy Prigent
29609 Brest Cedex
Tél : 02 98 34 75 45
Fax : 02 98 34 78 60
Spécialisations :
. Maladie de Takayasu

Haute-Garonne

Service de Médecine Vasculaire
Pr Bura-Rivière
Hôpital Rangueil
1, avenue du Pr Poulhès
31059 Toulouse Cedex 9
Tél : 05 61 32 24 38
Fax : 05 61 32 26 34
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Fibrodysplasie
. Maladie de Takayasu
. Maladie de Buerger
. Bicuspidie aortique familiale
. Lymphoedèmes congénitaux

Gironde

Service de Médecine Vasculaire
Pr Constans
Hôpital Saint André
1, rue Jean Burguet
33075 Bordeaux Cedex
Tél : 05 56 79 58 16
Fax : 05 56 79 58 03
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Maladie de Takayasu
. Maladie de Buerger

Hérault

Service de Médecine Interne et Médecine Vasculaire
Pr Quere
Hôpital Saint Eloi
80, avenue Augustin Fliche
34295 Montpellier Cedex 5
Tél : 04 67 33 70 25
Fax : 04 67 33 70 23
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Fibrodysplasie
. Maladie de Takayasu
. Maladie de Buerger
. Bicuspidie aortique familiale
. Lymphoedèmes congénitaux

Indre et Loire

Service de Dermatologie
Pr Vaillant
Hôpital Trousseau
Avenue de la république
37044 Tours Cedex 9
Tél : 02 47 47 46 25
Fax : 02 34 38 95 15
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Fibrodysplasie
. Maladie de Takayasu
. Maladie de Buerger
. Bicuspidie aortique familiale
. Lymphoedèmes congénitaux

Isère

Service de Cardiologie
Pr Baguet
Hôpital Nord de Grenoble
BP 127 38043 Grenoble Cedex 9
Tél : 04 76 76 54 40
Fax : 04 76 76 55 59
Spécialisation :
. Fibrodysplasie

Lorraine

Unité de Médecine Interne et Vasculaire
Pr Wahl
Hôpital Brabois
rue du Morvan
54511 Vandoeuvre les Nancy Cedex
Tél : 03 83 15 36 14
Fax : 03 83 15 36 16
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Fibrodysplasie
. Maladie de Takayasu
. Maladie de Buerger
. Bicuspidie aortique familiale
. Lymphoedèmes congénitaux

Nord

Service de Médecine Interne
Dr Lambert
Hôpital Claude Huriez
rue Michel Polonovski
59037 Lille Cedex
Tél : 03 20 44 42 95 06
Fax : 03 20 44 54 59
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Fibrodysplasie
. Maladie de Takayasu
. Maladie de Buerger
. Bicuspidie aortique familiale
. Lymphoedèmes congénitaux

Puy-de-Dôme

Service de Radiologie B Pôle d'Imagerie
Pr Boyer
Hôpital Montpied
58, rue Montalemebert BP 69
63003 Clermont-Ferrand Cedex 1
Tél : 04 73 75 17 32
Fax : 04 73 75 17 35
Spécialisation :
. Fibrodysplasie

Bas-Rhin

Service des Maladies Vasculaires
Pr Stephan
Nouvel hôpital civil de Strasbourg
Place de l'hôpital
67091 Strasbourg Cedex
Tél : 03 69 55 05 83
Fax : 03 69 55 17 95
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Maladie de Takayasu
. Maladie de Buerger
. Lymphoedèmes congénitaux

Rhône

Service de Génétique
Pr Plauchu
Hôpital Hôtel-Dieu
Place de l'hôpital
69288 Lyon Cedex 02
Tél : 04 72 41 32 94
Fax : 04 72 41 31 46
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Fibrodysplasie
. Maladie de Takayasu
. Maladie de Buerger
. Bicuspidie aortique familiale

Haute-Vienne

Service de Chirurgie Thoracique et Cardio-vasculaire et Angiologie
Pr Lacroix
CHU Dupuytren
2, avenue Martin Luther King
87042 Limoges Cedex
Tél : 05 55 05 63 71
Fax : 05 55 05 63 84
Spécialisations :
. Syndrome d'Ehlers-Danlos vasculaire
. Fibrodysplasie
. Maladie de Takayasu
. Maladie de Buerger
. Bicuspidie aortique familiale
. Lymphoedèmes congénitaux

Carte de soins et d'urgence

Dr M Frank — 2009-02-12T19:03:58Z

La Direction Générale de la Santé a édité dans le cadre du plan national "maladies rares 2005-2008" une carte de soins et d'urgence, destinée à améliorer la prise en charge des patients atteints du syndrome d'Ehlers-Danlos vasculaire.

Cette Carte est personnelle et contient deux volets :

1. Un volet soins.

Il contient des informations d'ordre médical. Y sont repertoriés les éventuelles lésions artérielles ou évènements connus, les traitements en cours et les coordonnées du(des) médecin(s) référent(s).

2. Un volet d'informations et de conseils, destiné aux patients.

Il contient des informations relatives à la maladie et des éléments de conduite à tenir en cas d'évènement suspect (p.ex. douleur thoracique ou abdominale inhabituelle).

Ce passeport est à la disposition des patients auprès du centre national de référence et des centres de compétence régionaux. Il est rempli et tenu à jour par le(s) médecin(s) référent(s).

How to consult

Dr M Frank — 2008-11-02T20:29:04Z

In case of an emergency, You may call directly + 33 (0)1 56 09 50 40

Rare Vascular Diseases Reference Center: Outpatient Consultations

In case of non urgent appointments, patients should be referred by their primary care physician or specialist. Motive of consultation, patient's symptoms and his medical history should be described in a brief letter or report.

This document should be sent to:

Postal address :
Centre de Référence des Maladies Vasculaires Rares
7ème étage Pôle B
Hôpital Européen Georges Pompidou (HEGP)
20-40, rue Leblanc
75908 Paris Cedex 15
by fax: + 00 33 (1) 56 09 20 40
by email : contact@maladiesvasculairesrares.com

Depending on which pathology You are referred for, Your demand will be dispatched to the most appropriate physician of our team. The secretary will then contact You directly for an appointment date and time.

If an underlying genetic vascular disease is suspected or possible, Your appointment will be preceeded by a short interview with our genetic counselor Mrs D. Molière, to establish relevant familial history and to draw Your familiy tree.

On the day of Your appointment, You should bring:

a valid personal ID.
relevant documentation about Your personal health care provider.
any previous examination results in Your possession
a list or prescription of all ongoing medications

Hôpital Européen Georges Pompidou

20-40 rue Leblanc 75015 Paris.


01. Plan d'accès à l'HEGP

Access map

Public transportation :

By Metropolitan: line 8, Balard station.
By Bus
- Line 88, last stop: HEGP
- Line 42, last stop: HEGP
  
  02. Plan de l'HEGP

PC, either bus stops: "esplanade Henri de France", or "Balard", or "Bassin d'Essai".

RER Line C, Boulevard Victor station.
Tramway Line T3, Balard station.

Shortly before Your appointment, You should report Your arrival to the "POMA", located on the same level, 7th floor concourse B .
Hospital map

Hôpital de la Fondation Cognacq-Jay

15 rue Eugène Million 75015 Paris.

Access map


Plan d'accès à l'hôpital de la Fondation Cognacq-Jay

Public Transportation :

By Metropolitan
- Line 8, Boucicaut station
- Ligne 12, Convention station
By Bus
- Line 62
- Line 39
- Line 80

Rare Vascular Diseases Reference Center, contacts

Secretary opening hours : from 8:30am to 1:00pm and from 2:00pm to 4:00pm

Phone : + 00 33 (0)1 56 09 50 41
Fax: + 00 33 (0)1 56 09 20 40
Email : contact@maladiesvasculairesrares.com

Centre de référence des maladies vasculaires rares

2012

Publications du Centre de Référence et de ses Partenaires Associés.

Clinical presentation

What is Takayasu disease?

What are the symptoms of Takayasu disease?

How is Takayasu disease diagnosed?

What is the treatment of Takayasu disease?

Patient follow-up during Takayasu disease

Welcome

Clinical presentation

What is thromboangiitis obliterans?

What are the symptoms of thromboangiitis obliterans?

How is thromboangiitis obliterans diagnosed?

What is the treatment of Buerger's disease?

Test génétique pour le syndrome d'Ehlers-Danlos vasculaire

La procédure de demande de diagnostic de SED vasculaire se déroule en deux temps

Contacts en cas d'urgence médicale

A la disposition des médecins et des patients

Centres de compétence régionaux pour les maladies vasculaires rares

Bouches-du-Rhône

Calvados

Finistère

Haute-Garonne

Gironde

Hérault

Indre et Loire

Isère

Lorraine

Nord

Puy-de-Dôme

Bas-Rhin

Rhône

Haute-Vienne

Carte de soins et d'urgence

Cette Carte est personnelle et contient deux volets :

How to consult

In case of an emergency, You may call directly + 33 (0)1 56 09 50 40

Rare Vascular Diseases Reference Center: Outpatient Consultations

Postal address : Centre de Référence des Maladies Vasculaires Rares 7ème étage Pôle B Hôpital Européen Georges Pompidou (HEGP) 20-40, rue Leblanc 75908 Paris Cedex 15by fax: + 00 33 (1) 56 09 20 40by email : contact@maladiesvasculairesrares.com

Hôpital Européen Georges Pompidou

Hôpital de la Fondation Cognacq-Jay

Rare Vascular Diseases Reference Center, contacts

In case of an emergency, You may call directly + 00 33 (0)1 56 09 50 40

Postal address :
Centre de Référence des Maladies Vasculaires Rares
7ème étage Pôle B
Hôpital Européen Georges Pompidou (HEGP)
20-40, rue Leblanc
75908 Paris Cedex 15
by fax: + 00 33 (1) 56 09 20 40
by email : contact@maladiesvasculairesrares.com