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Published on: January 19, 2024
Peutz-Jeghers Syndrome Presenting With Anemia: A Case Report
Sidra Shakil1, Zackery Aldaher1, Louis DiValentin2
1Internal Medicine, Alabama College of Osteopathic Medicine, Dothan, USA.
Insights
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing polyps and increased cancer risk. This case highlights the critical need for regular screening to prevent serious complications like gastrointestinal bleeding.
Area of Science:
- Genetics and Medicine
- Gastroenterology
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
- Characterized by hamartomatous polyps and mucocutaneous pigmentation.
- Associated with significantly increased lifetime risk of malignancies and complications.
Abstract:
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant condition characterized by hamartomatous polyps, primarily in the gastrointestinal tract and mucocutaneous pigmented macules. PJS patients are at an increased lifetime risk of malignancies and complications, such as gastrointestinal bleeding from polyposis. Routine screening is critical in patients diagnosed with PJS in order to avoid complications. We report a case of a 30-year-old female with PJS who had no family history presenting acutely due to gastrointestinal bleeding and poor surveillance of her condition.
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