Osler-Weber-Rendu syndrome (also known as hereditary hemorrhagic telangiectasia [HHT]) is inherited in an autosomal dominant manner. The disease is characterized by mucocutaneous and visceral telangiectases and arteriovenous malformations (AVM). Although epistaxis is the most common symptom, serious complications can arise as a result of large telangiectases and AVMs affecting the central nervous system (CNS), lungs, liver, spleen, and GI mucosa.
Osler-Weber-Rendu syndrome has been reported in all racial groups, and its prevalence varies among populations. For example, 1 case per 8345 persons is reported in France. Even greater frequencies have been reported for the Dutch Antilles. The estimated frequency in the US state of Vermont is 1 per 16,500 persons. Away from these discrete populations, however, Osler-Weber-Rendu syndrome is a rare condition that is estimated to affect 1-2 persons per 100,000 population in the United States. It affects men and women equally. Although Osler-Weber-Rendu syndrome can manifest in childhood, it more commonly appears in adolescents and young adults.
The prognosis for most patients is generally good when sources of bleeding can be found and controlled. Recurrent epistaxis and GI mucosal bleeds can result in melena and iron-deficiency anemia. Nosebleeds tend to become more serious with age, with 10%-30% of patients requiring blood transfusion. Patients with pulmonary AVMs and extensive GI telangiectases are at risk for life-threatening hemorrhage at these sites. In patients who have pulmonary AVMs, the risk for stroke is estimated to be 2% per year, while the incidence of brain abscess is estimated to be 1% per year. These patients are at risk for paradoxical bland and septic emboli. Cases have been reported of extensive hepatic involvement, with some patients requiring liver transplantation. Despite the numerous potential complications associated with Osler-Weber-Rendu syndrome, only 10% of these patients die from complications of the disease.
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Cite this: Noah Gudel, Alyn Hatter, Stanley L. Fox, et. al. A 50-Year-Old With Telangiectasia, Cough, and Epistaxis - Medscape - Aug 20, 2021.