HEREDITARY HEMORRHAGIC TELANGIECTASIA

By Gary M. White, MD

Hereditary Hemorrhagic Telangiectasia or Osler-Weber-Rendu Disease


Patients with hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, develop multiple cutaneous telangiectasias as well as vascular malformations internally.

Clinical

Patients present initially with epistaxis in childhood. Later, telangiectatic mats develop on the tongue, lips, fingertips, and elsewhere. Vascular abnormalities of other organs occur including the liver (portal hypertension), spleen, lung (pulmonary arteriovenous malformations, hemoptysis), gastrointestinal tract (GI bleeding, anemia), and urinary tract (hematuria). CNS abscesses may occur presumably from pulmonary arteriovenous malformations which do not filter venous septic foci.

Treatment

Many complications involving the brain, liver, and lung can develop.  Thus, a multidisciplinary approach to therapy is needed with the primary risks being outside of the dermatologist's arena. The cutaneous telangiectasias may be treated with laser. Genetic counseling should be done.

Additional Pictures

Hereditary Hemorrhagic Telangiectasia or Osler-Weber-Rendu Disease Hereditary Hemorrhagic Telangiectasia or Osler-Weber-Rendu Disease

Hereditary Hemorrhagic Telangiectasia or Osler-Weber-Rendu Disease

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