Document Detail

Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).
MedLine Citation:
PMID:  17641482     Owner:  NLM     Status:  MEDLINE    
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 malformations (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.
Vincent Cottin; Sophie Dupuis-Girod; Gaetan Lesca; Jean-François Cordier
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Respiration; international review of thoracic diseases     Volume:  74     ISSN:  0025-7931     ISO Abbreviation:  Respiration     Publication Date:  2007  
Date Detail:
Created Date:  2007-07-20     Completed Date:  2007-09-27     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0137356     Medline TA:  Respiration     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  361-78     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2007 S. Karger AG, Basel.
Reference Center for Orphan Lung Disorders, Louis Pradel Hospital, Hospices Civils de Lyon, University Lyon I, Research Network on Rendu-Osler Disease, Lyon, France.
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MeSH Terms
Hypertension, Pulmonary / diagnosis,  epidemiology,  etiology*
Pulmonary Artery / abnormalities*
Pulmonary Veins / abnormalities*
Telangiectasia, Hereditary Hemorrhagic / complications*,  epidemiology,  genetics
Tomography, X-Ray Computed
World Health

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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