Étude épidémiologique de la maladie de Rendu-Osler en France: répartition géographique et prévalence

Bideau, Alain; Plauchu, Henri; Brunet, Guy; Robert, Jack

doi:10.2307/1533331

Cited by 47 publications

(19 citation statements)

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“…The HHT diagnosis was based on (1) the presence of multiple (>15) telangiectatic lesions and (2) either a positive family history or recurrent episodes of bleeding. Difficulties associated with establishing the exact diagnosis was most pronounced at a young age.…”

Section: Methodsmentioning

confidence: 99%

“…Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder manifested as a multisystemic vascular dysplasia characterized by dermal, mucosal and visceral telangiectases, which may cause recurrent haemorrhage. The prevalence of HHT in the general Caucasian population exceeds 1:8000 in certain regions (1). In the county of Funen in Denmark, the prevalence of HHT is approximately 1:6410 (2).…”

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confidence: 99%

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Mutations in endoglin and in activin receptor‐like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

Brusgaard¹,

Kjeldsen

Poulsen³

et al. 2004

Clinical Genetics

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Hereditary haemorrhagic telangiectasia (HHT) is a rare disorder with one per 6000-10,000 affected individuals in the general Caucasian population. HHT is genetically heterogeneous, involving at least two loci HHT1 mapping to chromosome 9q34.1 and HHT2 mapping to chromosome 12q31. The loci have been identified as endoglin (ENG) and activin receptor-like kinase 1 (ALK1). In order to gain knowledge of the genotype distribution and prevalence in the Danish population and to establish a reproducible and sensitive molecular genetic test method, we developed a denaturating gradient gel electrophoresis protocol for mutation scanning of the two loci. Twenty-five Danish HHT families were tested. A total of eight new as well as seven previously reported mutations were identified. A founder mutation was characterized present in seven families and possibly introduced around 350 years ago. In one individual, a presumed spontaneous mutation was characterized. The method developed proved to be very sensitive for mutation detection in both ENG and ALK1. Genetic screening in HHT families facilitates an early treatment strategy for silent HHT manifestations in first degree relatives.

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Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

Mutations in endoglin and in activin receptor‐like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

Brusgaard¹,

Kjeldsen

Poulsen³

et al. 2004

Clinical Genetics

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“…Prevalence estimates vary between 1 in 5,000 and 1 in 10,000 inhabitants, with important geographic disparities, and areas of high prevalence such as the French Department of Ain [13], Vermont [14] and the Netherlands Antilles (especially in the Afro-Caribbean population) [15]. …”

Section: Clinical Manifestations and Diagnosismentioning

confidence: 99%

Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler Disease)

et al. 2007

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Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a genetic disorder with autosomal dominance and variable penetrance, characterized by epistaxis, telangiectasia and visceral manifestations of the disease. The estimated minimal prevalence is 1/10,000 inhabitants. The diagnosis is established on clinical criteria, and may be further confirmed by the identification of causative mutations in either the ENG or the ACVRL1 gene coding for endoglin and ALK1, respectively. Pulmonary vascular manifestations of HHT include pulmonary arteriovenous malforma- tions (PAVMs; especially in patients with ENG mutations) and less frequently pulmonary hypertension (especially in patients with ACVRL1 mutations). In 15–33% of patients with HHT, PAVMs consist of abnormal communications between pulmonary arteries and pulmonary veins, causing right-to-left shunting, and thus, frequently hypoxemia and dyspnea on exertion, although PAVMs may remain asymptomatic and frequently undiagnosed unless complications occur. PAVMs result in severe and frequent complications often at a young age, which may reveal the diagnosis, e.g. transient ischemic attack and cerebral stroke (10–19% of patients), systemic severe infections and abscesses (including cerebral abscess in 5–19% of patients), and rarely massive hemoptysis or hemothorax. Infections in HHT are related to the right-to-left shunting that bypasses the pulmonary capillaries and facilitates the passage of septic or aseptic emboli into the systemic and especially cerebral circulation, and potentially to minor defects in innate immunity. Treatment of PAVMs based on transcatheter coil vaso-occlusion of the feeding artery significantly decreases right-to-left shunting, hypoxemia and dyspnea on exertion, and reduces the risk of systemic complications. Long-term follow-up is warranted after transcatheter vaso-occlusion of PAVMs due to frequent recanalization of treated PAVMs and development or growth of untreated PAVMs. Patients with HHT should be informed of the risk of PAVM and potentially severe complications occurring in heretofore asymptomatic subjects. All adult patients with HHT should be proposed systematic screening for PAVM, by contrast echocardiography (preceded by anteroposterior chest radiograph) or computed tomography of the chest. Pulmonary hypertension is rare in HHT, and may be due either to systemic arteriovenous shunting in the liver increasing cardiac output or be clinically and histologically indistinguishable from idiopathic pulmonary arterial hypertension. Pulmonary hypertension is detected by systematic examination of right cardiac cavities and tricuspid regurgitation flow at echocardiography, and the diagnosis is established by right heart catheterization.

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“…Recent careful epidemiological studies in France, Denmark, and Japan, however, reveal an incidence of one in 5-8000. [1][2][3] Individuals with HHT present to a wide range of specialties spanning medical, surgical, and general practice disciplines. Advances in medical practice mean that an expectant approach to management is no longer appropriate, and patients are increasingly aware of this through patient self help websites (see end of article).…”

mentioning

confidence: 99%

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century

Begbie

Wallace²,

Shovlin³

2003

Postgraduate Medical Journal

302

234

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Hereditary haemorrhagic telangiectasia (HHT) affects one in 5−8000, and no longer can be viewed as solely causing anaemia (due to nasal and gastrointestinal bleeding) and characteristic mucocutaneous telangiectasia. Arteriovenous malformations commonly occur, and in the pulmonary and cerebral circulations demand knowledge of risks and benefits of asymptomatic screening and treatment. HHT is inherited as an autosomal dominant trait and there is no age cut off when apparently unaffected offspring of an individual with HHT can be told they are unaffected. This review focuses on the evolving evidence base for HHT management, issues regarding pregnancy and prothrombotic treatments, and discusses the molecular and cellular changes that underlie this disease.

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Étude épidémiologique de la maladie de Rendu-Osler en France: répartition géographique et prévalence

Cited by 47 publications

References 0 publications

Mutations in endoglin and in activin receptor‐like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

Mutations in endoglin and in activin receptor‐like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler Disease)

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century

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