Hereditary hemorrhagic telangiectasia is also known as which syndrome?

Hereditary hemorrhagic telangiectasia is also known as which syndrome?

• A. Osler-Weber-Rendu syndrome
• B. Sturge-Weber syndrome
• C. Klippel-Trenaunay syndrome
• D. Turner syndrome

Answer: (A)

Osler-Weber-Rendu syndrome is the name given to hereditary hemorrhagic telangiectasia. It’s an autosomal dominant vascular disorder marked by mucocutaneous telangiectasias and recurrent epistaxis, with possible arteriovenous malformations in the lungs, liver, and brain. The eponym honors Osler, Weber, and Rendu who described the condition. By contrast, Sturge-Weber is a nonhereditary neurocutaneous syndrome with a facial port-wine stain and leptomeningeal angiomas; Klippel-Trenaunay involves capillary malformations with limb overgrowth and venous malformations; Turner syndrome is a chromosomal disorder (45,X) not characterized by telangiectatic vascular lesions.

Osler-Weber-Rendu syndrome is the name given to hereditary hemorrhagic telangiectasia. It’s an autosomal dominant vascular disorder marked by mucocutaneous telangiectasias and recurrent epistaxis, with possible arteriovenous malformations in the lungs, liver, and brain. The eponym honors Osler, Weber, and Rendu who described the condition. By contrast, Sturge-Weber is a nonhereditary neurocutaneous syndrome with a facial port-wine stain and leptomeningeal angiomas; Klippel-Trenaunay involves capillary malformations with limb overgrowth and venous malformations; Turner syndrome is a chromosomal disorder (45,X) not characterized by telangiectatic vascular lesions.