Uncommon presentation of a patient with hereditary haemorrhagic telangiectasia
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 bl...
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| Main Authors: | , , |
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| Format: | Book |
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Sri Lanka College of Internal Medicine,
2024-07-01T00:00:00Z.
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| Summary: | 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. |
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| Item Description: | 10.4038/ajim.v3i2.161 2827-7260 |