HEREDITARY HEMORRHAGIC TELANGIECTASIA

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

• The inheritance is autosomal dominant with incomplete penetrance. 

Genes Involved

• ENG (Endoglin): Mutations in the ENG gene, which encodes a protein found in the lining of blood vessels, are associated with HHT type 1.
• ACVRL1 (Activin A receptor type II-like 1): Mutations in the ACVRL1 gene, also related to blood vessel development, are associated with HHT type 2.
• SMAD4: Mutations in the SMAD4 gene can cause HHT/juvenile polyposis combined syndrome.

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

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