Research Information System
ARC Journal of Clinical Case Reports, vol.10, no.2, pp.9-15, 2024 (Peer-Reviewed Journal)
Osler-Weber-Rendu Syndrome, also known as hereditary hemorrhagic telangiectasia, is an autosomal dominant disease characterized by the presence of vascular telangiectasias in the skin and mucosa. Epistaxis can occur due to telangiectasias in the nasal mucosa and oral cavity. Diffuse arteriovenous malformations may occur in the lung, liver, and brain. Histopathology shows superficially located thin-walled vascular structures.
In this case report, we present a multiparous patient in her 50s who was diagnosed with Osler-Weber-Rendu syndrome during examination due to complaints of recurrent nosebleeds and widespread telangiectasia in the skin/mucosa. In addition, ipsilateral renal-adnexal agenesis and a 3 cm intrahepatic mass were incidentally detected on cross-sectional imaging. A biopsy was taken from the mass in the liver and pathological examination revealed follicular nodular hyperplasia. Her kidney function test is within normal limits and she is multiparous. Following all examinations, symptomatic treatment for nosebleeds and iron replacement therapy were started.