Coppens J P, Kartheuser A, Verellen-Dumoulin C, Gribomont A C, Detry R, Van Heuverzwyn R
Centre de Colo-Proctologie, Cliniques Universitaires Saint-Luc, Bruxelles.
Acta Gastroenterol Belg. 1992 Sep-Dec;55(5-6):457-61.
Familial adenomatous polyposis (FAP) is a rare autosomal-dominant disease characterized by the development of more than 100 colorectal adenomatous polyps in young adults. In the absence of surgical intervention, colorectal cancer ineluctably develops in all affected patients. Recent progress in the isolation of the gene responsible for the disease allows to detect gene carriers before they present with symptoms attributable to polyps. Moreover, the presence of four or more lesions of congenital hypertrophy of the retinal pigment epithelium is an extracolonic manifestation of FAP allowing presymptomatic screening of this disease. An effective screening programme combined with the elaboration of a registry for FAP and prophylactic colectomy should reduce mortality related to colorectal cancer. Two other extracolonic manifestations of FAP remain major causes of death: abdominal desmoid tumors and duodenal adenocarcinoma. At this time, no effective medical or surgical therapy has been found to cure these lesions. Restorative proctocolectomy with ileal reservoir is another major advance. This procedure is now regarded as the treatment of choice for patients with FAP because radical removal of all premalignant colorectal mucosa eliminates the risk of subsequent development of a colorectal adenocarcinoma.
家族性腺瘤性息肉病（FAP）是一种罕见的常染色体显性疾病，其特征是在年轻人中出现100多个结直肠腺瘤性息肉。若不进行手术干预，所有患病患者都会不可避免地发展为结直肠癌。在分离导致该疾病的基因方面取得的最新进展，使得能够在基因携带者出现息肉相关症状之前检测到他们。此外，视网膜色素上皮先天性肥大出现四个或更多病变是FAP的一种肠外表现，可用于该疾病的症状前筛查。一个有效的筛查计划，结合建立FAP登记册和预防性结肠切除术，应能降低与结直肠癌相关的死亡率。FAP另外两种肠外表现仍然是主要死因：腹部硬纤维瘤和十二指肠腺癌。目前，尚未发现有效的药物或手术治疗方法来治愈这些病变。回肠储袋肛管吻合术是另一项重大进展。该手术现在被视为FAP患者的首选治疗方法，因为彻底切除所有癌前结直肠黏膜可消除随后发生结直肠癌的风险。
