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Published on: July 21, 2023
Obscure gastrointestinal bleeding and Turner syndrome
1Division of Gastroenterology-Hepatology, University of Alabama at Birmingham, Birmingham, AL, USA. j_y_bang@yahoo.co.uk
Summary
Gastrointestinal bleeding is rare in Turner syndrome. This study highlights gastrointestinal vascular malformations as a potential cause in affected individuals, diagnosed via capsule endoscopy.
Area of Science:
- Gastroenterology
- Genetics
- Vascular Medicine
Background:
- Turner syndrome is a genetic condition affecting females, characterized by the absence of one X chromosome.
- Gastrointestinal bleeding is an uncommon complication in Turner syndrome.
- Obscure gastrointestinal bleeding presents diagnostic challenges.
Observation:
- Two female patients with Turner syndrome presented with obscure gastrointestinal bleeding.
- Initial investigations including colonoscopy and esophagogastroduodenoscopy were inconclusive.
- One patient had polyps and a non-bleeding colonic vein; the other had recurrent melena and anemia.
Findings:
- Capsule endoscopy revealed gastrointestinal vascular malformations in both patients.
- These vascular anomalies were identified as the source of bleeding.
- This diagnosis was made after conventional endoscopic procedures failed to identify the bleeding source.
Implications:
- Gastrointestinal vascular malformations should be considered in the differential diagnosis of obscure gastrointestinal bleeding in Turner syndrome patients.
- Capsule endoscopy is a valuable tool for diagnosing obscure gastrointestinal bleeding in this population.
- Early diagnosis and management of these malformations can prevent complications like anemia.
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