Beech D, Pontius A, Muni N, Long W P
University of Tennessee-Memphis School of Medicine, Department of Surgery, 38163, USA.
J Natl Med Assoc. 2001 Jun;93(6):208-13.
Familial adenomatous polyposis (FAP) is an autosomal dominant condition characterized by diffuse intestinal polyposis, specific gene mutation, and predisposition for developing colon cancer. Left untreated, patients with FAP will develop colorectal carcinoma during early adulthood. Hence, early detection and surgical intervention are of the utmost importance. Colectomy is required and may include an ileal pouch with ileoanal anastomosis, which eliminates the colon and rectal disease while preserving fecal continence and avoidance of a permanent ileostomy. Advances in the treatment of FAP with associated reduction in mortality from colorectal carcinoma make extracolonic manifestations of the disease more common and life-long surveillance is mandatory. The most life-threatening extracolonic manifestations of FAP are periampullary carcinoma and desmoid tumors. The upper gastrointestinal tract should be monitored endoscopically at the time of diagnosis and assessed regularly thereafter. Duodenal adenomas should be resected so as to avoid the devastating effects of invasive periampullary carcinoma. Additionally, the development of desmoid tumors needs to be monitored (by CT or MRI), so as to avoid the severe complications of local invasion. Further research is indicated in the development of effective screening and treatment for this condition.
家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传病，其特征为弥漫性肠道息肉、特定基因突变以及患结肠癌的倾向。若不治疗，FAP患者在成年早期会发展为结直肠癌。因此，早期检测和手术干预至关重要。需要进行结肠切除术，可能包括回肠储袋肛管吻合术，该手术可消除结肠和直肠疾病，同时保持大便失禁并避免永久性回肠造口术。FAP治疗的进展以及结直肠癌死亡率的相应降低，使得该疾病的结肠外表现更为常见，因此终身监测必不可少。FAP最危及生命的结肠外表现是壶腹周围癌和硬纤维瘤。在诊断时应通过内镜监测上消化道，并在此后定期评估。十二指肠腺瘤应予以切除，以避免侵袭性壶腹周围癌带来的毁灭性影响。此外，需要监测硬纤维瘤的发展（通过CT或MRI），以避免局部侵袭的严重并发症。对于这种疾病，在有效筛查和治疗的发展方面还需要进一步研究。
