Identified nearly a century ago, hereditary hemorrhagic telangiectasia,or Rendu–Osler–Weber syndrome, has long been viewedas a rare condition producing minor discomfort for affectedpersons. However, this disorder is now considered to be morecommon than previously thought,1,2,3,4,5 and the associatedbrain and pulmonary lesions are sources of substantial morbidityand mortality.3,6,7,8 Wider recognition of the condition andawareness of its sequelae can help avoid the considerable risksassociated with its mismanagement. Advances in molecular geneticshave demonstrated that hereditary hemorrhagic telangiectasiais actually a group of autosomal dominant disorders.9,10,11,12,13The recent identification of the gene causing one form of . . . [Full Text of this Article]
Pathophysiologic Features
Clinical Manifestations
Nose
Skin
Lung
Brain
Gastrointestinal Tract
Molecular Genetics
Diagnosis
Management
Future Developments
Source Information
From the Department of Pediatrics, University of Vermont College of Medicine, Burlington (A.E.G.); the Department of Genetics, Duke University Medical Center, Durham, N.C. (D.A.M.); and the Department of Diagnostic Radiology, Yale University School of Medicine, New Haven, Conn. (R.I.W.).
Address reprint requests to Dr. Guttmacher at the Vermont Human Genetics Initiative, Box B-10, 1 Mill St., Burlington, VT 05401.
References
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Hereditary Hemorrhagic Telangiectasia
Shovlin C. L., Hughes J.M.B., Kjeldsen A. D., Vase P., Oxhøj H., Guttmacher A. E., Marchuk D. A., White R. I.
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N Engl J Med 1996;
334:330-332, Feb 1, 1996.
Correspondence
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