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Respiration. 2017;94(4):315-330. doi: 10.1159/000479632. Epub 2017 Aug 30.

The Lung in Hereditary Hemorrhagic Telangiectasia.

Author information

1
Service de génétique - centre de référence national pour la maladie de Rendu-Osler, Hôpital Femme-Mère-Enfants, Hospices Civils de Lyon, Bron, France.

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and brain. Its diagnosis is based on the Curaçao criteria, and is considered definite if at least 3 of the 4 following criteria are fulfilled: (1) spontaneous and recurrent epistaxis, (2) telangiectasia, (3) a family history, and (4) pulmonary, liver, cerebral, spinal, or gastrointestinal AVMs. The focus of this review is on delineating how HHT affects the lung.

KEYWORDS:

Anemia; Hereditary hemorrhagic telangiectasia; Pulmonary arteriovenous malformations; Pulmonary hypertension; Rare vascular disease

PMID:
28850955
DOI:
10.1159/000479632
[Indexed for MEDLINE]
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