Peutz-Jeghers syndrome: a study of long-term surgical morbidity and causes of mortality

Patients with Peutz-Jeghers syndrome (PJS) require lifelong multidisciplinary care for gastrointestinal polyposis and increased risk of cancer. Their long-term morbidities and causes of mortality are unknown. Patients with a definitive diagnosis of PJS (n = 54) were retrospectively reviewed for disease course and outcome. Operative details, pathology and complications were noted for those treated surgically (n = 33). Median follow-up was 7.0 years (interquartile range: 2-20). Two malignancies were found intra-operatively (duodenal and rectal adenocarcinoma). In the long-term, 42% underwent additional operations; 1 patient developed short bowel syndrome, while another, chronic partial bowel obstruction and pain. Twenty-one additional cancers were treated in 19 patients: gynecologic (11), lung (3), and prostate (2) being the most common. 16 patients (30%) were deceased, at a median age of 51 years. The cause of death was unknown in 4 patients, but was due exclusively to malignancies in all other patients, most commonly due to metastatic gynecologic cancer (5). The overall survival of PJS patients was significantly shorter than the expected survival of an age-and gender-matched reference population (P < 0.001). Given the morbidities associated with repeated operations and the risk for cancer-related mortality in the long-term, efforts should focus on minimizing the need for surgical intervention and optimizing cancer detection, treatment and prevention.