2nd Department of Internal Medicine - Gastroenterology, Charles University, Faculty of Medicine in Hradec Kralove and University Hospital, Hradec Kralove, Czech Republic.
Curr Opin Gastroenterol. 2021 May 1;37(3):245-254. doi: 10.1097/MOG.0000000000000718.
Peutz-Jeghers syndrome is a rare, autosomal dominant, hereditary polyposis syndrome defined by gastrointestinal hamartomas and mucocutaneous pigmentations, caused by a germline mutation in the serine/ threonine kinase 11 or liver kinase B1 (STK11/LKB1) genes. Hamartomatous polyps located throughout the gastrointestinal tract can be complicated by bleeding and small bowel intussusception, potentially leading to the need for emergency surgery. Individuals suffering from Peutz-Jeghers syndrome have an increased lifetime risk of various forms of cancer (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular). Surveillance should lead to the prevention of complications and thus a reduction in mortality and morbidity of patients.
A combined approach based on wireless capsule endoscopy, magnetic resonance enterography and device-assisted enteroscopy is effective in reduction of the polyp burden and thus decreasing the risk of bleeding and intussusception. Current guidelines for screening and surveillance are mostly based on expert opinion rather than evidence.
Peutz-Jeghers syndrome is an emerging disease that significantly affects the quality of life enjoyed by patients. Despite of all the progress in improved early diagnostics, options for advanced endoscopic therapy and elaborate surveillance, acute and chronic complications decrease the life expectancy of patients suffering from Peutz-Jeghers syndrome.
Peutz-Jeghers 综合征是一种罕见的常染色体显性遗传性息肉病综合征，其特征为胃肠道错构瘤和黏膜皮肤色素沉着，由丝氨酸/苏氨酸激酶 11 或肝激酶 B1（STK11/LKB1）基因突变引起。位于胃肠道各处的错构瘤性息肉可并发出血和小肠套叠，可能需要紧急手术。患有 Peutz-Jeghers 综合征的个体一生中患各种癌症（胃肠道、胰腺、肺、乳腺、子宫、卵巢和睾丸）的风险增加。监测应预防并发症，从而降低患者的死亡率和发病率。
基于无线胶囊内镜、磁共振肠造影和器械辅助式小肠镜的联合方法可有效减少息肉负担，从而降低出血和套叠的风险。目前的筛查和监测指南主要基于专家意见，而非证据。
Peutz-Jeghers 综合征是一种新兴疾病，显著影响患者的生活质量。尽管在早期诊断、先进的内镜治疗选择和精心的监测方面取得了所有进展，但急性和慢性并发症仍降低了患有 Peutz-Jeghers 综合征的患者的预期寿命。
