DISEASE BURDEN AND UNMET NEEDS IN CHINESE PATIENTS WITH PEUTZ-JEGHERS SYNDROME: A SYSTEMATIC LITERATURE REVIEW
Author(s)
Rong Hao, MD1, Dan Yu, MSc1, Shan Du, MD1, Yang Tang, MB2, Chunjia Chen, MB2, Wendong Chen, PhD, MD1.
1Xiangya Hospital, Central South University, Changsha, China, 2Changsha Nuomin Medical Technology Ltd, Changsha, China.
1Xiangya Hospital, Central South University, Changsha, China, 2Changsha Nuomin Medical Technology Ltd, Changsha, China.
OBJECTIVES: Peutz-Jeghers syndrome (PJS) is a rare hereditary polyposis syndrome associated with substantially elevated risks of multisystem cancers. This study summarized disease burden and unmet needs among Chinese patients with PJS.
METHODS: A systematic search of English and Chinese bibliographic databases was conducted for real-world studies published from 2016 to 2026 reporting epidemiology, patient characteristics, clinical outcomes, humanistic outcomes, or economic outcomes in Chinese patients with PJS. Evidence was synthesized using single-arm random-effects meta-analysis or weighted pooling.
RESULTS: Thirty-eight studies were included. Mean ages at first polyp detection and first open abdominal surgery were 14.5 and 16.9 years, respectively. Median ages at first intussusception, intestinal obstruction, and cancer diagnosis were 15.0, 18.0, and 40.0 years. Common initial presentations were abdominal pain (56.0%), intussusception (23.9%), and mucocutaneous pigmentation (22.7%). Baseline disease burden involved multi-site gastrointestinal polyps, most frequently in the duodenum (96.7%), small intestine (78.8%), stomach (74.1%), and colorectum (63.8%). Common complications included intussusception (51.4%), anemia (37.4%), and intestinal obstruction (29.5%). Surgical burden was substantial, with 52.4% of patients undergoing surgery; intussusception was the leading indication (78.3%). In pediatric and adolescent patients, annual recurrence risks were 24.9% for any gastrointestinal polyps and 18.7% for small-intestinal polyps. Cumulative gastrointestinal cancer risk increased with age, reaching 3.9%, 17.3%, 36.6%, 48.5%, and 78.8% at ages 30, 40, 50, 60, and 70 years. No studies reported population-based epidemiology, patient-reported outcomes, economic burden, or long-term survival.
CONCLUSIONS: Chinese patients with PJS face early recurrent complications, frequent surgery, and increasing cancer risk. Major evidence gaps in epidemiology, quality of life, costs, and survival highlight the need for earlier diagnosis, standardized surveillance, less invasive care, and long-term real-world evidence.
METHODS: A systematic search of English and Chinese bibliographic databases was conducted for real-world studies published from 2016 to 2026 reporting epidemiology, patient characteristics, clinical outcomes, humanistic outcomes, or economic outcomes in Chinese patients with PJS. Evidence was synthesized using single-arm random-effects meta-analysis or weighted pooling.
RESULTS: Thirty-eight studies were included. Mean ages at first polyp detection and first open abdominal surgery were 14.5 and 16.9 years, respectively. Median ages at first intussusception, intestinal obstruction, and cancer diagnosis were 15.0, 18.0, and 40.0 years. Common initial presentations were abdominal pain (56.0%), intussusception (23.9%), and mucocutaneous pigmentation (22.7%). Baseline disease burden involved multi-site gastrointestinal polyps, most frequently in the duodenum (96.7%), small intestine (78.8%), stomach (74.1%), and colorectum (63.8%). Common complications included intussusception (51.4%), anemia (37.4%), and intestinal obstruction (29.5%). Surgical burden was substantial, with 52.4% of patients undergoing surgery; intussusception was the leading indication (78.3%). In pediatric and adolescent patients, annual recurrence risks were 24.9% for any gastrointestinal polyps and 18.7% for small-intestinal polyps. Cumulative gastrointestinal cancer risk increased with age, reaching 3.9%, 17.3%, 36.6%, 48.5%, and 78.8% at ages 30, 40, 50, 60, and 70 years. No studies reported population-based epidemiology, patient-reported outcomes, economic burden, or long-term survival.
CONCLUSIONS: Chinese patients with PJS face early recurrent complications, frequent surgery, and increasing cancer risk. Major evidence gaps in epidemiology, quality of life, costs, and survival highlight the need for earlier diagnosis, standardized surveillance, less invasive care, and long-term real-world evidence.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
CO220
Topic
Clinical Outcomes, Methodological & Statistical Research
Topic Subcategory
Relating Intermediate to Long-term Outcomes
Disease
Gastrointestinal Disorders, Oncology, Rare & Orphan Diseases