Peutz-Jeghers Syndrome (PJS)
Etymology: Named after Jan Peutz and Harold Jeghers, who described the syndrome.
AKA: PJS
What is it? Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant genetic disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
Caused by:
- Mutation in the STK11 (LKB1) tumor suppressor gene on chromosome 19p13.3.
Resulting in:
- Hamartomatous polyps throughout the GI tract.
- Mucocutaneous pigmentation, particularly around the lips, oral mucosa, and digits.
- Increased risk of gastrointestinal and non-gastrointestinal cancers.
Structural Changes:
- Hamartomatous polyps with characteristic arborizing smooth muscle within the polyp.
Pathophysiology:
- Loss of function of the STK11 gene results in disrupted cellular growth regulation, leading to polyp formation and increased cancer risk.
Pathology:
- Polyps are hamartomatous and non-neoplastic but can cause complications due to intussusception and bleeding.
Diagnosis:
- Clinical criteria: presence of mucocutaneous pigmentation and multiple hamartomatous polyps.
- Genetic testing for STK11 mutation.
Clinical:
- Recurrent abdominal pain due to intussusception.
- GI bleeding.
- Mucocutaneous pigmentation (dark brown to black macules on lips, oral mucosa, and fingertips).
- Increased cancer risk (GI, breast, pancreatic, ovarian, cervical, testicular, and lung).
Radiology:
The radiological appearance of small bowel intussusception in Peutz-Jeghers syndrome (PJS) often includes the presence of small polyps and the characteristic barium “stack of coins” sign.
In PJS, the small bowel polyps are typically hamartomatous and can lead to intussusception, which is a common complication.
Radiologically, these polyps can be visualized using various imaging modalities.
Stack of Coins
On barium studies, the “stack of coins” sign is a classic finding, which represents the appearance of the intussuscepted bowel segments with interposed layers of barium and mucosa, resembling a stack of coins.[1-3]
The “stack of coins” sign is indicative of the telescoping nature of intussusception, where one segment of the bowel invaginates into another. This sign is particularly useful in diagnosing intussusception in the context of PJS, where the polyps act as lead points for the intussusception.[1-2]
In addition to barium studies, other imaging modalities such as ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) can also be used to identify intussusception and associated polyps. These modalities can provide detailed images of the bowel and help in the diagnosis and management of PJS.[3-4]
Overall, the radiological appearance of small bowel intussusception in PJS, characterized by small polyps and the barium “stack of coins” sign, is crucial for accurate diagnosis and timely intervention to prevent complications such as bowel obstruction and ischemia.
- CXR: Typically normal unless complications such as metastases are present.
- CT:
- Polyps may be visible in the GI tract with lead point intussusception.
- Multiple soft tissue masses with intussusception.
- MRI:
- Useful for detecting intussusception and identifying polyps.
- UGI and Small Bowel Series (Barium Study):
- Can demonstrate polyps, intussusception, and filling defects due to polyps.
- Intussusception often presents as a coiled spring appearance due to bowel invagination.
- Endoscopic Imaging:
- Visualization of polyps with characteristic arborizing smooth muscle patterns.
Labs:
- Genetic testing for STK11 mutation.
- Iron deficiency anemia secondary to GI bleeding.
Management:
- Surveillance endoscopy and colonoscopy.
- Surgical management for complications like intussusception.
- Cancer screening due to elevated risk of malignancy.
Radiology Detail:
- CXR:
- Normal unless complications present.
- CT:
- Detects polyps, intussusception, and complications.
- MRI:
- Useful for soft tissue differentiation and detecting polyps.
- UGI and Small Bowel Series:
- Demonstrates polyps, intussusception, and filling defects due to polyps.
- Other Imaging:
- Endoscopy remains key for direct visualization and biopsy.
Pulmonary Function Tests (PFTs):
- Not applicable to this condition.
Recommendations:
- Regular endoscopic surveillance.
- Genetic counseling for family members.
- Cancer screening protocols.
Key Points and Pearls:
- Hamartomatous polyps can cause intussusception and bleeding but are non-neoplastic.
- Mucocutaneous pigmentation is a hallmark sign.
- Strong association with increased cancer risk, particularly GI and breast cancer.
- Early detection through genetic testing and surveillance is critical.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the development of hamartomatous polyps throughout the gastrointestinal (GI) tract, with a predilection for the small bowel. According to the American Gastroenterological Association, small bowel polyps occur in 96% of patients with PJS. These polyps are histologically distinctive, exhibiting an arborizing pattern of growth with muscularis mucosae extending into branching fronds of the polyp.[1]
The clinical management of PJS focuses on early surveillance and intervention to prevent complications such as bleeding, intussusception, and obstruction, which are common due to the presence of these polyps. Surveillance typically includes esophagogastroduodenoscopy (EGD), colonoscopy, and small bowel imaging with video capsule endoscopy (VCE) or magnetic resonance enterography (MRE), starting at age 8 years.[2] The US Multi-Society Task Force on Colorectal Cancer recommends these measures to detect and manage polyps early, thereby reducing the risk of emergency surgical interventions and improving patient outcomes.[2]
In summary, the relationship between Peutz-Jeghers syndrome and small bowel polyps is significant, with the majority of patients developing these polyps, which necessitates vigilant surveillance and management to mitigate associated complications.
The relationship between Peutz-Jeghers syndrome (PJS) and small bowel polyps is well-documented, with the majority of patients developing these characteristic hamartomatous polyps predominantly in the small intestine. These polyps are most frequently found in the jejunum, followed by the ileum and duodenum.[3] The clinical significance of these polyps lies in their potential to cause complications such as intussusception, bowel obstruction, and gastrointestinal bleeding, which can lead to anemia and necessitate multiple surgical interventions.[3]
Management strategies for small bowel polyps in PJS have evolved to include advanced endoscopic techniques. Double-balloon enteroscopy (DBE) has been shown to be effective and safe for both the detection and removal of small bowel polyps, significantly reducing the need for emergency laparotomies.[4] In a prospective cohort study, DBE allowed for the successful removal of 96% of polyps ?10 mm without complications, highlighting its utility in the therapeutic management of PJS.[4]
Additionally, combined push enteroscopy and intraoperative enteroscopy have been employed to manage small bowel polyps, particularly in patients with diffuse polyposis. This approach has demonstrated efficacy in reducing the frequency of emergency surgeries and maintaining patients asymptomatic during follow-up.[5] Regular surveillance using these endoscopic techniques is crucial to prevent complications and improve patient outcomes.
In summary, the relationship between Peutz-Jeghers syndrome and small bowel polyps is significant, with the majority of patients developing these polyps, which necessitates vigilant surveillance and management to mitigate associated complications. Advanced endoscopic techniques such as DBE and push enteroscopy play a pivotal role in the effective management of these polyps, reducing the need for surgical interventions and improving the quality of life for patients with PJS.
MCQ
What are the recommended surveillance strategies for Peutz-Jeghers syndrome patients?
The recommended surveillance strategies for patients with Peutz-Jeghers syndrome (PJS) are designed to address the high prevalence of small bowel polyps and the associated risks of complications such as intussusception, bowel obstruction, and gastrointestinal bleeding. The US Multi-Society Task Force on Colorectal Cancer recommends baseline small bowel surveillance using video capsule endoscopy (VCE) or magnetic resonance enterography (MRE) between ages 8 and 10 years or earlier if the patient is symptomatic. If no polyps are found at the initial examination, surveillance should resume at age 18 years. In adulthood, small bowel surveillance should continue every 2?3 years throughout life due to the ongoing risk of intussusception.[1]
Additionally, the American Gastroenterological Association suggests that upper gastrointestinal endoscopy (EGD) and colonoscopy be performed at age 8 years. If polyps are found, these examinations should be repeated every 3 years. If no polyps are found, a second baseline examination should be done at age 18 years, followed by surveillance every 3 years thereafter.[2]
These recommendations are based on expert consensus and retrospective data, emphasizing the importance of early and regular surveillance to prevent complications and manage polyp burden effectively.
What are the common age groups for the onset of small bowel polyps in Peutz-Jeghers syndrome patients?
What are the potential side effects of medications used to manage small bowel polyps?
How often should imaging studies be repeated in Peutz-Jeghers syndrome patients?
References:
1.
Syngal S, Brand RE, Church JM, et al.
The American Journal of Gastroenterology. 2015;110(2):223-62; quiz 263. doi:10.1038/ajg.2014.435.
2.
Boland CR, Idos GE, Durno C, et al. Gastroenterology. 2022;162(7):2063-2085.
3.
McGarrity TJ, Amos CI, Baker MJ GeneReviews® [Internet]. Updated 2021 Sep 2.
4.
Gao H, van Lier MG, Poley JW, et al. Gastrointestinal Endoscopy. 2010;71(4):768-73. doi:10.1016/j.gie.2009.11.005.
5.
Pennazio M, Rossini FP. Gastrointestinal Endoscopy. 2000;51(3):304-8. doi:10.1016/s0016-5107(00)70359-2.
- Peutz-Jeghers syndrome: a systematic review and recommendations for management ? Gut
- Peutz-Jeghers syndrome | Radiopaedia
- Peutz-Jeghers Syndrome: A Comprehensive Review of Genetics, Clinical Features, and Management Approaches ? Cureus
- Peutz-Jeghers Syndrome and Management Recommendations ? CGH Journal
- Peutz-Jeghers Syndrome and the Role of Imaging in Screening for Gastrointestinal Cancer ? MDPI
- Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome ? Karger
- Radiological work-up in Peutz-Jeghers syndrome ? Springer
- Peutz-Jeghers Syndrome | Gastrointestinal Imaging ? Oxford Academic
- Peutz-Jeghers Syndrome – Radiologica
- Peutz?Jeghers syndrome – Wikipedia