High importance
Aug 18, 2026
To highlight the clinical management of a patient with hereditary hemorrhagic telangiectasia (HHT) presenting with refractory gastrointestinal bleeding and severe anemia.
A thorough clinical evaluation was conducted, including upper gastrointestinal endoscopy to identify bleeding telangiectasias and cross-sectional imaging to assess multisystem arteriovenous malformations. Treatment involved multiple modalities including argon plasma coagulation, thalidomide, intravenous bevacizumab, and subcutaneous octreotide.
Treatment with intravenous bevacizumab and octreotide led to stabilization of hemoglobin levels and resolution of occult gastrointestinal bleeding, despite prior treatments failing to control the bleeding.
The diagnosis of HHT was clinically established using the Curaçao criteria despite negative genetic testing for known mutations associated with HHT, suggesting potential limitations in genetic testing sensitivity.
This case underscores the importance of recognizing HHT as a potential cause of severe unexplained anemia and showcases the effectiveness of anti-angiogenic therapy in refractory cases, influencing future management approaches in similar patients.
A man in his 20s presented with progressive fatigue and melena, with a history of recurrent epistaxis since adolescence and a positive family history. Evaluation revealed severe iron-deficiency anaemia (haemoglobin 27 g/L) with persistently positive faecal occult blood. Upper gastrointestinal endoscopy demonstrated multiple bleeding telangiectasias in the stomach and duodenum. Cross-sectional imaging of abdomen, thorax and brain identified multisystem arteriovenous malformations involving the liver, lung and brain. Despite repeated argon plasma coagulation and thalidomide therapy, bleeding persisted with ongoing transfusion dependence. Treatment with intravenous bevacizumab and subcutaneous octreotide stabilised haemoglobin and resolved occult gastrointestinal bleeding. A clinical diagnosis of hereditary haemorrhagic telangiectasia was established using Curaçao criteria despite negative genetic testing. This case highlights the importance of recognising hereditary haemorrhagic telangiectasia in unexplained severe anaemia and supports the role of anti-angiogenic therapy in refractory gastrointestinal bleeding.