What are the pulmonary symptoms of Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Updated: Oct 06, 2020
  • Author: Klaus-Dieter Lessnau, MD, FCCP; Chief Editor: Vincent Lopez Rowe, MD  more...
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Answer

Pulmonary AVMs affect approximately 50% of patients with HHT. [44] and are particularly common in HHT1, with 85% of ENG mutation carriers demonstrating right-to-left shunts on contrast echocardiograms. [44, 45]

Pulmonary AVMs are present in 15-33% of patients with the disease. Dyspnea and exercise intolerance are often presenting symptoms of pulmonary AVMs; however, most patients with pulmonary AVMs have no significant respiratory symptoms. [46, 47] Pulmonary AVMs may cause enough right-to-left shunting to cause cyanosis, hypoxemia, and secondary polycythemia. Pulmonary AVMs also increase the incidence of infection as a result of septic emboli formation in the pulmonary vasculature.

Pulmonary hypertension is another vascular manifestation of HHT. Although much less common than pulmonary AVMs, it can result from systematic arteriovenous shunting in the liver that increases cardiac output, or it can be clinically and histologically indistinguishable from idiopathic pulmonary hypertension. [48]


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