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Peutz-Jeghers Syndrome Presenting With Iron-Deficiency Anaemia and a Giant Colonic Polyp
Naznin Naher1, Abdullah Al Masud2, Sunil Kumar Biswas1
1Department of Internal Medicine, Bangabandhu Sheikh Mujib Medical University, Dhaka, BGD.
Insights
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing characteristic skin pigmentation and gastrointestinal polyps. Early diagnosis and routine screening are crucial for managing cancer risks and preventing complications in affected individuals.
Area of Science:
- Genetics
- Gastroenterology
- Oncology
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
- It is characterized by mucocutaneous pigmentation and hamartomatous polyps.
- PJS significantly increases the lifelong risk of various cancers.
Observation:
- A 19-year-old female presented with abdominal pain and rectal bleeding.
- She exhibited symptoms suggestive of anemia.
- The patient's presentation prompted investigation for gastrointestinal pathology.
Findings:
- The case highlights the clinical manifestations of Peutz-Jeghers syndrome.
- Hamartomatous polyps can lead to complications like gastrointestinal bleeding.
- Early detection of PJS is vital for proactive management.
Implications:
- Routine screening is essential for PJS patients to prevent complications from polyposis and malignancies.
- Timely diagnosis and management can mitigate risks associated with PJS.
- This case underscores the importance of recognizing PJS symptoms for early intervention.
Abstract:
Peutz-Jeghers syndrome (PJS) is an uncommon autosomal dominant disorder that manifests as mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal system. Pigmentation of the skin and mucous membranes may be present from birth, but it typically appears in early childhood and can sometimes develop later. In addition to an increased lifelong risk of cancers and problems, such as gastrointestinal bleeding from polyposis, hamartomatous polyps can develop in the stomach, small bowel, or colon. In order to prevent difficulties associated with intestinal and extraintestinal malignancies in patients diagnosed with PJS, routine screening is essential. We report a case of a 19-year-old young girl who presented with intermittent episodes of abdominal pain and a few occasions of fresh per rectal bleeding, as well as features of anaemia.
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