Hereditary hemorrhagic telangiectasia- case report

Dr Helena Schotland and colleagues, at the University of Michigan, Ann Arbor, MI have reported a rare case of Hereditary Hemorrhagic Telangiectasia. The case has appeared in the New England Journal of Medicine.

Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly into veins rather than into the capillaries which are called arteriovenous malformations. The most common locations affected are the nose, lungs, brain and liver. These AVMs may enlarge over time and can bleed or rupture, sometimes causing catastrophic complications.

There are several forms of hereditary hemorrhagic telangiectasia, distinguished mainly by their genetic cause but with some differences in patterns of signs and symptoms. A clinical diagnosis is made in the presence of any three of the following: recurrent epistaxis, mucocutaneous telangiectasias, visceral arteriovenous lesions, or a first-degree relative with hereditary hemorrhagic telangiectasia.

A 74-year-old woman was hospitalized with sudden-onset weakness on the left side due to an acute infarct of the right middle cerebral artery. Her medical history was notable for intermittent epistaxis, melena, and chronic anaemia. The family history included multiple first-degree relatives who had similar symptoms. In addition to a flattened nasolabial fold, hemiparesis, and hyperreflexia on the left side, telangiectasias on the oral mucosa and fingers were found on physical examination (Panels A and B).

A chest radiograph showed a round density in the right hemithorax (Panel C), which angiography confirmed to be a large pulmonary arteriovenous malformation (Panel D). Hereditary hemorrhagic telangiectasia (or Rendu–Osler–Weber syndrome) is an autosomal dominant disorder leading to vascular malformations.

Pulmonary arteriovenous malformations can lead to stroke due to paradoxical embolism. The patient underwent successful coil embolization of the arteriovenous malformation to prevent future ischemic events but was subsequently lost to follow-up.

For further reference log on to: DOI: 10.1056/NEJMicm1905896