A 50-Year-Old With Telangiectasia, Cough, and Epistaxis

Discussion

Osler-Weber-Rendu syndrome (also known as hereditary hemorrhagic telangiectasia [HHT]) is inherited in an autosomal dominant manner.^[1] 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.^[2] The estimated frequency in the US state of Vermont is 1 per 16,500 persons.^[2] 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.^[2] It affects men and women equally. Although Osler-Weber-Rendu syndrome can manifest in childhood, it more commonly appears in adolescents and young adults.^[2]

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.^[2] Nosebleeds tend to become more serious with age, with 10%-30% of patients requiring blood transfusion.^[2] Patients with pulmonary AVMs and extensive GI telangiectases are at risk for life-threatening hemorrhage at these sites.^[2] 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.^[2] These patients are at risk for paradoxical bland and septic emboli.^[2] Cases have been reported of extensive hepatic involvement, with some patients requiring liver transplantation.^[3] Despite the numerous potential complications associated with Osler-Weber-Rendu syndrome, only 10% of these patients die from complications of the disease.^[2]

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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.