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Literature DB >> 12566546

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

M E Begbie¹, G M F Wallace, C L Shovlin.

Abstract

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.

Entities: Disease

Mesh：

Year: 2003 PMID： 12566546 PMCID： PMC1742589 DOI： 10.1136/pmj.79.927.18

Source DB: PubMed Journal: Postgrad Med J ISSN： 0032-5473 Impact factor: 2.401

42 in total

1. Hereditary hemorrhagic telangiectasia; nine cases in one Negro family, with special reference to hepatic lesions.

Authors: J L SMITH; M I LINEBACK
Journal: Am J Med Date: 1954-07 Impact factor: 4.965

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

Authors: A Bourdeau; U Cymerman; M E Paquet; W Meschino; W C McKinnon; A E Guttmacher; L Becker; M Letarte
Journal: Am J Pathol Date: 2000-03 Impact factor: 4.307

3. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia.

Authors: A D Kjeldsen; J Kjeldsen
Journal: Am J Gastroenterol Date: 2000-02 Impact factor: 10.864

4. Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

Authors: U Cymerman; S Vera; N Pece-Barbara; A Bourdeau; R I White; J Dunn; M Letarte
Journal: Pediatr Res Date: 2000-01 Impact factor: 3.756

5. Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.

Authors: R B Willemse; J J Mager; C J Westermann; T T Overtoom; H Mauser; J G Wolbers
Journal: J Neurosurg Date: 2000-05 Impact factor: 5.115

6. A murine model of hereditary hemorrhagic telangiectasia.

Authors: A Bourdeau; D J Dumont; M Letarte
Journal: J Clin Invest Date: 1999-11 Impact factor: 14.808

7. A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1.

Authors: G M Wallace; C L Shovlin
Journal: Thorax Date: 2000-08 Impact factor: 9.139

Review 8. Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred.

Authors: J E McDonald; F J Miller; S E Hallam; L Nelson; D A Marchuk; K J Ward
Journal: Am J Med Genet Date: 2000-08-14

9. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Authors: C L Shovlin; A E Guttmacher; E Buscarini; M E Faughnan; R H Hyland; C J Westermann; A D Kjeldsen; H Plauchu
Journal: Am J Med Genet Date: 2000-03-06

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

Authors: S A Abdalla; N Pece-Barbara; S Vera; E Tapia; E Paez; C Bernabeu; M Letarte
Journal: Hum Mol Genet Date: 2000-05-01 Impact factor: 6.150

47 in total

1. An unusual cause for recurrent transient ischaemic attacks.

Authors: Baki Ejupi; Shafick Gareeboo
Journal: BMJ Case Rep Date: 2011-08-04

2. Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.

Authors: Teresa Santiago-Sim; Sumy Mathew-Joseph; Hariyadarshi Pannu; Dianna M Milewicz; Christine E Seidman; J G Seidman; Dong H Kim
Journal: Stroke Date: 2009-03-19 Impact factor: 7.914

3. Hepatic and pancreatic involvement in hereditary hemorrhagic telangiectasia: quantitative and qualitative evaluation with 64-section CT in asymptomatic adult patients.

Authors: Matthias Barral; Marc Sirol; Vinciane Placé; Lounis Hamzi; Michel Borsik; Etienne Gayat; Mourad Boudiaf; Philippe Soyer
Journal: Eur Radiol Date: 2011-08-23 Impact factor: 5.315

4. Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years.

Authors: T Krings; A Ozanne; S M Chng; H Alvarez; G Rodesch; P L Lasjaunias
Journal: Neuroradiology Date: 2005-09-01 Impact factor: 2.804

5. Hereditary haemorrhagic telangiectasia in children. Endovascular treatment of neurovascular malformations. Results in 31 patients.

Authors: T Krings; S M Chng; A Ozanne; H Alvarez; G Rodesch; P L Lasjaunias
Journal: Interv Neuroradiol Date: 2005-06-17 Impact factor: 1.610