Peutz-Jeghers Syndrome Presenting With Anemia: A Case Report

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.

Keywords: anemia; gastric polyps; gastrointestinal bleeding; genetics; peutz-jeghers syndrome.

Figure 1. Multiple hyperpigmented spots located on lips

Figure 2. EGD showing multiple gastric polyps (A) and antral inflammation (B)

EGD: esophagogastroduodenoscopy