A 20-year-old man has had recurrent profuse epistaxis since childhood. Examination shows multiple small telangiectatic spots on his lips, tongue, and fingertips, and his father required repeated nasal cautery for similar bleeding. What is the MOST likely diagnosis?

• A Juvenile nasopharyngeal angiofibroma
• B Von Willebrand disease
• C Idiopathic thrombocytopenic purpura
• D Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu disease) ✓

Explanation

Autosomal dominant inheritance, mucocutaneous telangiectases, and recurrent epistaxis from childhood define hereditary haemorrhagic telangiectasia, caused by mutations in the ENG (endoglin) or ACVRL1 genes. Platelet disorders and von Willebrand disease cause mucosal bleeding but do not produce visible telangiectases or this inheritance pattern. Juvenile angiofibroma occurs in adolescent males as a mass with obstruction, not diffuse telangiectasia, and is not familial.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.