The family physician suspected that this was a case of undiagnosed hereditary hemorrhagic telangiectasias (HHT), also known as Osler-Weber-Rendu syndrome. HHT is an autosomal dominant vascular disease with an estimated prevalence of 1 in 10,000.
HHT is associated with mutations in genes that regulate transforming growth factor beta in endothelial cells. Arterioles become dilated and connect directly with venules without a capillary in between. Although manifestations are not present at birth, telangiectasias later develop on the skin, mucus membranes, and gastrointestinal tract. In addition, arteriovenous malformations (AVMs) often develop in the hepatic, pulmonary, and cerebral circulations. Any of these lesions may become fragile and prone to bleeding. These AVMs may require surgical resection if they bleed profusely.
HHT is diagnosed if 3 of the following 4 criteria are met: 1) recurrent spontaneous nosebleeds (the presenting sign in more than 90% of patients, often during childhood), 2) mucocutaneous telangiectasia (typically develops in the third decade of life), 3) visceral involvement (lungs, brain, liver, colon), and 4) an affected first-degree relative.
Patients with HHT have lesions on the tongue, lips, nasal mucosa, hands, and feet, though the number—and location—of lesions varies. If a patient has HHT, obtain a complete blood count and iron studies. Patients are at higher risk for iron-deficiency anemia due to recurrent nosebleeds and/or gastrointestinal bleeding.
HHT has no cure. Oral iron supplementation and transfusions are sometimes needed due to bleeding. Few randomized controlled trials exist regarding treatment of bleeding. Case reports and uncontrolled studies regarding epistaxis treatment show some benefit from laser treatment, surgery, embolization, and topical therapy. Cauterization is not recommended due to complications from local tissue damage. Embolization procedures have been described for AVMs in the liver, lungs, and brain. Surgical resection of AVMs is sometimes done as a last resort when other measures fail.
In short, it is often best to do as little intervention as possible with HHT, and if so, with input from specialists experienced with this disease, as complications and recurrence are frequently encountered.
Photos and text for Photo Rounds Friday courtesy of Richard P. Usatine, MD. This case was adapted from: Hitzeman N. Hereditary vascular lesions in adults. In: Usatine R, Smith M, Mayeaux EJ, et al, eds. The Color Atlas of Family Medicine. New York, NY: McGraw-Hill; 2009:865-868.
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