Hereditary telangiectasia manifested as gastrointestinal bleeding without external visible telangiectasia

Area of Science:

• Gastroenterology
• Medical Genetics

Background:

• Recurrent gastrointestinal bleeding (GIB) poses diagnostic challenges when common causes are excluded.
• Patients often present with anemia, fatigue, and occult blood in stool, with multiple investigations proving unrevealing.

Purpose of the Study:

• To highlight Rendu-Osler-Weber Disease as a potential cause of obscure recurrent GIB.
• To emphasize the diagnostic utility of gastroscopy in identifying gastric mucosal telangiectasia.

Main Methods:

• Case series involving three patients with undiagnosed recurrent GIB.
• Comprehensive diagnostic workup including barium radiography, endoscopy, and exploratory laparotomy.
• Detailed gastroscopic examination to identify mucosal abnormalities.

Main Results:

• The source of bleeding was identified years later as Rendu-Osler-Weber Disease (hereditary telangiectasia).
• Gastroscopic examination revealed multiple gastric mucosal telangiectasias in all patients.
• Typical mucocutaneous telangiectasias were absent in these patients at the time of initial evaluation.

Conclusions:

• Rendu-Osler-Weber Disease should be considered in patients with obscure recurrent GIB.
• Thorough endoscopic evaluation, particularly gastroscopy, is crucial for diagnosing hereditary telangiectasia as a cause of GIB.
• Gastric mucosal telangiectasias are a significant diagnostic finding in this context.