Published online Mar 14, 2023. doi: 10.3748/wjg.v29.i10.1627
Peer-review started: December 12, 2022
First decision: January 11, 2023
Revised: January 17, 2023
Accepted: February 16, 2023
Article in press: February 16, 2023
Published online: March 14, 2023
Processing time: 87 Days and 21.7 Hours
Peutz-Jeghers syndrome (PJS) is a clinically rare autosomal dominant inherited disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors as clinical manifestations. Effective preventive and curative methods are still lacking.
Here we summarize out experience with 566 Chinese patients with PJS from a Chinese medical center our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features, diagnosis, and treatment, in order to promote the clinical understanding of PJS and improve its clinical diagnosis and treatment.
To explore the clinical features, diagnosis, and treatment of PJS in Chinese patients.
The clinical data of 566 PJS cases admitted to the Air Force Medical Center from January 1994 to October 2022 was retrospectively analyzed, including age, gender, ethnicity, family history, first treatment age, time and sequence of appearance of mucocutaneous pigmentation, polyp distribution, polyp quantity and diameter, frequency of hospitalization, frequency of surgical operations, etc.
Of all the patients included, 55.3% were male and 44.7% were female. Median time to the appearance of mucocutaneous pigmentation was 2 years, and median time from the appearance of mucocutaneous pigmentation to the occurrence of abdominal symptoms was 10 years. The vast majority (92.2%) of patients underwent small bowel endoscopy and treatment, with 2.3% having serious complications. There was a statistically significant difference in the number of enteroscopies between patients with and without canceration (P = 0.004, Z = -2.882); 71.2% of patients underwent surgical operation, 75.6% of patients underwent surgical operation before the age of 35 years, and there was a statistically significant difference in the frequency of surgical operations between patients with and without cancer (P = 0.000, Z = -5.127). At 40 years of age, the cumulative risk of intussusception in PJS was approximately 72.0%, and at 50 years, the cumulative risk of intussusception in PJS was approximately 89.6%. At 50 years of age, the cumulative risk of cancer in PJS was approximately 49.3%, and at 60 years of age, the cumulative risk of cancer in PJS was approximately 71.7%.
The risk of intussusception and cancer of PJS polyps increases with age. PJS patients ≥ 10 years old should undergo annual enteroscopy. Endoscopic treatment has a good safety profile and can reduce the occurrence of polyp intussusception and cancer. Surgery should be conducted to protect the gastrointestinal system by removing polyps.
The clinical data of 566 PJS cases diagnosed and treated in a Chinese medical center were retrospectively analyzed, and the clinical characteristics and diagnosis and treatment process of Chinese PJS are summarized.