以直腸出血為初期表現的家族性大腸息肉症：一病例報告

Rectal Hemorrhage as an Initial Presentation of Familial Adenomatous Polyposis－－A Case Report

家族性大腸息肉症是一種遺傳性大腸直腸癌症，以廣泛性的腸道息肉及特異的基因突變來表現，臨床的表現症狀包括血便、上腹痛、腹痛及體重減輕。我們報告一個二十歲的年輕男性，其剛開始的症狀為六個月的不定時血便及在站立時容易頭暈，他的父親有大腸息肉的病史且在28歲時接受過手術切除治療，他的祖父於45歲時因大腸癌併發轉移而死亡。個案的大腸鏡結果顯示出整個大腸內有大小不一（幾毫米至二公分）的多發性息肉，主要分佈在直腸與乙狀結腸的部份。其病理切片報告為管狀腺瘤合併輕度分化不良。依其臨床發現、病理報告結果及家族史，診斷為家族性大腸息肉症。個案接受預防性直腸大腸切除與廻腸口袋肛門吻合手術治療，在術後2年追蹤期間並無大腸息肉或癌症之發生。

Familial adenomatous polyposis (FAP) is one type of hereditary colorectal cancers, characterized by diffuse intestinal polyposis associated with specific gene mutation. Clinical symptoms include fresh blood in the stool, abdominal pain in epigastric region, frequent feeling of abdominal distension and body weight loss. We report a case of a 20 year-old male who presented with intermittent bloody stool passage and dizziness spell off and on for six months. Colonoscopy finding discloses numerous polyps with sizes between minimeters and two centimeters throughout the whole colon, but mainly at the sigmoid colon and rectum. Pathological finding reveals these polyps are tubular adenoma with mild dysplasia. His father had a history of adenomatous polyposis and has received a surgical intervention at the age of 28, and his grandfather died at the age of 45 due to colon cancer with metastasis. The diagnosis of FAP is made according to the clinical pictures, the pathological findings and familial history. Surgical intervention with prophylactic proctocolectomy with ileal pouch-anal anastomosis (IPAA) is done. Early diagnosis and treatment of FAP is necessary because of the high risk of FAP developing into colorectal cancer. Even after the surgical intervention, the patient of FAP should receive regular survey every year for the recurrence of polyps and colorectal cancer.