Heriditary Hemorrhagic telangiextasia

a hereditary, systemic vasculopathy characterized by telangiectasia on the skin and mucosa, particularly in the area of the face (nose, lips, tongue)

autosomal dominant

mutations in genes which code for TGF-β receptors (e.g., endoglin or ALK-1) → structural defects in the vessel wall → postcapillary venous pooling → formation of small and large arteriovenous shunts

• Recurrent epistaxis

• Telangiectasia involving the skin and mucous membranes (including GI tract)

• Cyanosis

• Diagnostic criteria for HHT (Curaçao criteria)

  • Epistaxis

  • Teleangiectasias

  • Family history of HHT

  • Signs of visceral involvement (e.g., pulmonary, gastrointestinal, cerebral)

• Genetic testing

• For epistaxis management, see “Treatment” section above.

• Skin telangiectasia can be treated by laser therapy or by injection of sclerosing agents.

• Embolization is used to treat large pulmonary and hepatic AV fistulas.

• High-output cardiac failure

• Paradoxical emboli → brain abscess and/or stroke

• Chronic GI bleeding and/or hematuria → anemia