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Previous Volume 333:918-924 October 5, 1995 Number 14 Next

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Identified nearly a century ago, hereditary hemorrhagic telangiectasia, or Rendu–Osler–Weber syndrome, has long been viewed as a rare condition producing minor discomfort for affected persons. However, this disorder is now considered to be more common than previously thought,^1,2,3,4,5 and the associated brain and pulmonary lesions are sources of substantial morbidity and mortality.^3,6,7,8 Wider recognition of the condition and awareness of its sequelae can help avoid the considerable risks associated with its mismanagement. Advances in molecular genetics have demonstrated that hereditary hemorrhagic telangiectasia is actually a group of autosomal dominant disorders.^{9,10,11,12,13} The 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.
Extract | Full Text  
N Engl J Med 1996; 334:330-332, Feb 1, 1996. Correspondence

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