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Gastrointestinal Bleeding in the Setting of Juvenile Polyposis Syndrome Due to SMAD4 Mutation

Paula Marincola Smith1, Marcus C Tan1

  • 1Department of Surgery, Section of Surgical Sciences, Vanderbilt University Medical Center, Nashville, TN, USA.

The American Surgeon
|February 22, 2023
PubMed

Insights

A young woman with anemia during pregnancy was diagnosed with Juvenile Polyposis Syndrome (JPS) due to a SMAD4 gene mutation. Surgical removal of stomach polyps resolved her anemia, highlighting the importance of genetic screening for JPS.

Area of Science:

  • Gastroenterology
  • Genetics
  • Obstetrics

Background:

  • Juvenile Polyposis Syndrome (JPS) is a rare genetic disorder characterized by hamartomatous polyps in the gastrointestinal tract.
  • Germline mutations in SMAD4 or BMPR1A genes are the primary cause of JPS.
  • While typically benign, JPS polyps carry a risk of malignant transformation.

Observation:

  • A 27-year-old pregnant female presented with severe anemia and epigastric pain.
  • Endoscopy revealed a large gastric polyp and other hyperplastic polyps.
  • Biopsies showed hyperplasia with eosinophils; anemia required transfusions throughout pregnancy.

Findings:

  • Postpartum total gastrectomy confirmed multiple hamartomatous polyps, with no evidence of malignancy.
  • Genetic testing identified a SMAD4 gene mutation, confirming Juvenile Polyposis Syndrome.
  • Anemia resolved completely after surgical management of the gastric polyps.

Implications:

  • This case underscores the importance of considering genetic screening for JPS in young patients with multiple gastrointestinal polyps, even without a family history.
  • Early diagnosis and management of JPS can prevent complications like severe anemia and potential malignant transformation.
  • Multidisciplinary care involving gastroenterology, genetics, and obstetrics is crucial for managing JPS during pregnancy.

Keywords:
HHTJPSSMAD4hereditary haemorrhagic telangiectasiajuvenile polyposis syndrome

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