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

被引：206

作者：

Begbie, ME

Wallace, GMF

Shovlin, CL

机构：

[1] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, Fac Med, Natl Heart & Lung Inst, London W12 0NN, England

[2] Univ Edinburgh, Rayne Labs, Edinburgh EH8 9YL, Midlothian, Scotland

来源：

POSTGRADUATE MEDICAL JOURNAL | 2003年 / 79卷 / 927期

关键词：

D O I：

10.1136/pmj.79.927.18

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：18 / 24

页数：7

共 55 条

[1]

AASSAR OS, 1991, LARYNGOSCOPE, V101, P977

[2] Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2 [J].

Abdalla, SA ;

Pece-Barbara, N ;

Vera, S ;

Tapia, E ;

Paez, E ;

Bernabeu, C ;

Letarte, M .

HUMAN MOLECULAR GENETICS, 2000, 9 (08) :1227-1237

[3] EPIDEMIOLOGICAL-STUDY OF RENDU-OSLER DISEASE IN FRANCE - GEOGRAPHICAL-DISTRIBUTION AND FREQUENCY [J].

BIDEAU, A ;

PLAUCHU, H ;

BRUNET, G ;

ROBERT, JM .

POPULATION, 1989, 44 (01) :9-28

[4] Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement [J].

Boillot, O ;

Bianco, F ;

Viale, JP ;

Mion, F ;

Mechet, I ;

Gille, D ;

Delaye, J ;

Paliard, P ;

Plauchu, H .

GASTROENTEROLOGY, 1999, 116 (01) :187-192

[5] Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1 [J].

Bourdeau, A ;

Cymerman, U ;

Paquet, ME ;

Meschino, W ;

McKinnon, WC ;

Guttmacher, AE ;

Becker, L ;

Letarte, M .

AMERICAN JOURNAL OF PATHOLOGY, 2000, 156 (03) :911-923

[6] A murine model of hereditary hemorrhagic telangiectasia [J].

Bourdeau, A ;

Dumont, DJ ;

Letarte, M .

JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (10) :1343-1351

[7] HEPATIC VASCULAR MALFORMATIONS IN HEREDITARY HEMORRHAGIC TELANGIECTASIA - IMAGING FINDINGS [J].

BUSCARINI, E ;

BUSCARINI, L ;

CIVARDI, G ;

ARRUZZOLI, S ;

BOSSALINI, G ;

PIANTANIDA, M .

AMERICAN JOURNAL OF ROENTGENOLOGY, 1994, 163 (05) :1105-1110

[8] Clinical outcome of transfemoral embolisation in patients with arteriovenous malformations of the liver in hereditary haemorrhagic telangiectasia (Weber-Rendu-Osler disease) [J].

Caselitz, M ;

Wagner, S ;

Chavan, A ;

Gebel, M ;

Bleck, JS ;

Wu, A ;

Schlitt, HJ ;

Galanski, M ;

Manns, MP .

GUT, 1998, 42 (01) :123-126

[9] Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin [J].

Cymerman, U ;

Vera, S ;

Pece-Barbara, N ;

Bourdeau, A ;

White, RI ;

Dunn, J ;

Letarte, M .

PEDIATRIC RESEARCH, 2000, 47 (01) :24-35

[10] Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan [J].

Dakeishi, M ;

Shioya, T ;

Wada, Y ;

Shindo, T ;

Otaka, K ;

Manabe, M ;

Nozaki, J ;

Inoue, S ;

Koizumi, A .

HUMAN MUTATION, 2002, 19 (02) :140-148

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