Rashi Seetha, Seeni Mohamed Abdul Majith, Ramakrishnan Karthik Krishna, Subramonian Sakthi Ganesh, Udaya Bhanu Vadupu
Department of Radiology, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.
Cureus. 2024 Jul 18;16(7):e64855. doi: 10.7759/cureus.64855. eCollection 2024 Jul.
Familial adenomatous polyposis (FAP) is a dominantly inherited, autosomal form of hereditary condition caused by a germline mutation in the adenomatous polyposis coli (APC) gene. The early development of adenomatous polyps in the colon and rectum predisposes to rampant proliferation, which usually leads to colorectal cancer. Hence, this condition demands intensive surveillance and aggressive intervention. This case report epitomizes the convergence of advanced imaging with genetic diagnosis and, in essence, points toward a complete multidisciplinary approach as critical for proper management of FAP. The detailed evaluation of two siblings presenting with similar gut symptoms from this article focused on the individualization that this condition needs when managed, although underpinning the critical role coordinated care plays in changing disease outcomes.
家族性腺瘤性息肉病（FAP）是一种由腺瘤性息肉病 coli（APC）基因的种系突变引起的显性遗传、常染色体形式的遗传性疾病。结肠和直肠中腺瘤性息肉的早期发展易导致过度增殖，这通常会引发结直肠癌。因此，这种疾病需要强化监测和积极干预。本病例报告体现了先进影像学与基因诊断的结合，从本质上讲，指出了完整的多学科方法对于FAP的妥善管理至关重要。本文对两名出现相似肠道症状的兄弟姐妹进行的详细评估，重点关注了这种疾病在管理时所需的个体化，尽管强调了协调护理在改变疾病结局中所起的关键作用。
