Journal ArticleDOI
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
Claire L. Shovlin,Alan E. Guttmacher,Elisabetta Buscarini,Marie E. Faughnan,Robert H. Hyland,C.J.J. Westermann,Anette Drøhse Kjeldsen,Henri Plauchu +7 more
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TLDR
A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion and to be considered at risk in view of age-related penetration in this disorder.Abstract:
Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but the disease is more difficult to diagnosis in many patients. Serious consequences may result if visceral arteriovenous malformations, particularly in the pulmonary circulation, are unrecognized and left untreated. In spite of the identification of two of the disease-causing genes (endoglin and ALK-1), only a clinical diagnosis of HHT can be provided for the majority of individuals. On behalf of the Scientific Advisory Board of the HHT Foundation International, Inc., we present consensus clinical diagnostic criteria. The four criteria (epistaxes, telangiectasia, visceral lesions and an appropriate family history) are carefully delineated. The HHT diagnosis is definite if three criteria are present. A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion. If fewer than two criteria are present, HHT is unlikely, although children of affected individuals should be considered at risk in view of age-related penetration in this disorder. These criteria may be refined as molecular diagnostic tests become available in the next few years.read more
Citations
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Journal ArticleDOI
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Marie E. Faughnan,Valerie A. Palda,Guadalupe Garcia-Tsao,Urban W. Geisthoff,Jamie McDonald,Deborah D. Proctor,J Spears,Dale H. Brown,Elisabetta Buscarini,Mark S. Chesnutt,Vincent Cottin,Arupa Ganguly,James R. Gossage,Alan E. Guttmacher,Robert H. Hyland,Shelley J. Kennedy,Joshua R. Korzenik,J J Mager,A P Ozanne,Jay F. Piccirillo,Daniel Picus,Henri Plauchu,Mary Porteous,Reed E. Pyeritz,Douglas A. Ross,Carlo Sabbà,Karen L. Swanson,Peter B. Terry,M C Wallace,C.J.J. Westermann,Robert I. White,Lawrence H. Young,Roberto Zarrabeitia +32 more
TL;DR: The goal of this international HHT guidelines process was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of H HT-related complications and treatment of symptomatic disease.
Journal ArticleDOI
Vascular disorders of the liver.
TL;DR: This guideline has been approved by the American Association for the Study of Liver Diseases (AASLD) and represents the position of the association.
Journal ArticleDOI
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
Richard C. Trembath,Jennifer R. Thomson,Rajiv D. Machado,Neil V. Morgan,Carl Atkinson,Ingrid Winship,G. Simonneau,Nazzareno Galiè,James E. Loyd,Marc Humbert,William C. Nichols,Nicholas W. Morrell,Jonathan Berg,Alessandra Manes,Julie McGaughran,Michael W. Pauciulo,Lisa Wheeler +16 more
TL;DR: Pulmonary hypertension in association with hereditary hemorrhagic telangiectasia can involve mutations in ALK1, a member of the transforming growth factor beta (TGF-beta) superfamily of receptors, which is associated with diverse effects, including the vascular dilatation characteristic of hereditary hemorrhage.
Journal ArticleDOI
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.
Jamie McDonald,Whitney Wooderchak-Donahue,Whitney Wooderchak-Donahue,Chad VanSant Webb,Kevin J. Whitehead,David A. Stevenson,Pinar Bayrak-Toydemir,Pinar Bayrak-Toydemir +7 more
TL;DR: An expanded approach to molecular diagnostics for inherited telangiectasia disorders that incorporates a multi-gene next generation sequencing (NGS) HHT panel is proposed.
Journal ArticleDOI
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Carol J. Gallione,Gabriela M. Repetto,Eric Legius,Anil K. Rustgi,Susan Schelley,Sabine Tejpar,Grant A. Mitchell,Éric Drouin,Cornelius J.J. Westermann,Douglas A. Marchuk +9 more
TL;DR: Patients with juvenile polyposis who have an MADH4 mutation should be screened for the vascular lesions associated with hereditary haemorrhagic telangiectasia, especially occult arteriovenous malformations in visceral organs that may otherwise present suddenly with serious medical consequences.
References
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Journal ArticleDOI
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
Kimberly A. McAllister,Grogg Km,Darren W. Johnson,Carol J. Gallione,Melanie A. Baldwin,Charles E. Jackson,Charles E. Jackson,E A Helmbold,Dorene S. Markel,Wendy McKinnon,Jill R. Murrell +10 more
TL;DR: Endoglin is identified as the HHT gene mapping to 9q3 and HHT is established as the first human disease defined by a mutation in a member of the TGF-β receptor complex.
Journal ArticleDOI
Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
Darren W. Johnson,Jonathan Berg,Jonathan Berg,Melanie A. Baldwin,Carol J. Gallione,Ivonne Marondel,S.-J. Yoon,Timothy T. Stenzel,Marcy C. Speer,Margaret A. Pericak-Vance,Austin G. Diamond,Alan E. Guttmacher,Charles E. Jackson,L. Attisano,Raju Kucherlapati,Mary Porteous,Douglas A. Marchuk +16 more
TL;DR: A new 4 cM interval for ORW2 is reported that does not overlap with any previously defined and suggests a critical role for ALK1 in the control of blood vessel development or repair.
Journal ArticleDOI
Hereditary Hemorrhagic Telangiectasia
TL;DR: Hereditary hemorrhagic telangiectasia is now considered to be more common than previously thought and the associated brain and pulmonary lesions are sources of substantial morbidity and mortality.
Journal ArticleDOI
Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population
TL;DR: The results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia selected from a total of 1,270 cases recruited by epidemiological survey suggested autosomal dominant inheritance.
Journal ArticleDOI
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease): New Insights in Pathogenesis, Complications, and Treatment
Tjeerd Haitjema,C.J.J. Westermann,Thimotheus T. C. Overtoom,Robin Timmer,Frans Disch,Henk W. Mauser,Jan-Willem J. Lammers +6 more
TL;DR: In view of the high prevalence of pulmonary and cerebral AVMs, all patients with HHT should be screened for their presence, and relatives of patients with the disease should be investigated for presence of the disease.
Related Papers (5)
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Marie E. Faughnan,Valerie A. Palda,Guadalupe Garcia-Tsao,Urban W. Geisthoff,Jamie McDonald,Deborah D. Proctor,J Spears,Dale H. Brown,Elisabetta Buscarini,Mark S. Chesnutt,Vincent Cottin,Arupa Ganguly,James R. Gossage,Alan E. Guttmacher,Robert H. Hyland,Shelley J. Kennedy,Joshua R. Korzenik,J J Mager,A P Ozanne,Jay F. Piccirillo,Daniel Picus,Henri Plauchu,Mary Porteous,Reed E. Pyeritz,Douglas A. Ross,Carlo Sabbà,Karen L. Swanson,Peter B. Terry,M C Wallace,C.J.J. Westermann,Robert I. White,Lawrence H. Young,Roberto Zarrabeitia +32 more