Uncommon presentation of a patient with hereditary haemorrhagic telangiectasia

• Main Authors: I. N. Walmsley (Author), V. Ratnamalala (Author), J. Indrakumar (Author)
• Format: Book
• Published: Sri Lanka College of Internal Medicine, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.4038/ajim.v3i2.161; 2827-7260
• Keywords: Hereditary hemorrhagic telangiectasia; Haematuria; Nipple bleeding; Internal medicine; RC31-1245
• Source: Asian Journal of Internal Medicine, Vol 3, Iss 2 (2024)

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder. It is clinically characterised by telangiectasia, recurrent epistaxis, and visceral vascular lesions. We report a case of HHT without a significant family history. A 16-year-old girl presented with multiple episodes of bleeding, including uncommon sites, over a period of ten months. She denied a family history of bleeding. Her clinical examination was unremarkable. Investigations including basic and second-line coagulation tests were normal. Subsequently multiple telangiectasias in the right nasal septum and capillary dilatation in the bladder wall were detected. According to Curaçao diagnostic criteria, a diagnosis of HHT was made. As her bleeding was self-limiting, follow up was arranged to monitor complications.