Family Adenomatous Polyopsis-Clinical Experience in Tri-Service General Hospital

家族性腺瘤息肉群症是一少見的顯性遺傳疾病。此病一經診斷，若不接受大腸切除的治療，最後幾乎是百分之百會發展成為大腸癌。三軍總醫院從民國69年至81年，總共在13個家庭中，有15位患者，其中包括男性患者13位，女性患者2位，診斷為此病。這些患者中，10例有家族病史，另外5例則無明顯的家族病史。有家族病史的患者，其診斷時的平均年齡為31.0歲，無家族病史的患者，則為57.6歲；診斷時，即發生癌症的患者，總共8例，其中有家族病史者佔6位（60％），無家族病史者佔2位（40％）。患者的臨床表徵以腸胃道出血（86.7％）、腹瀉（80％）、腹痛（40％）及貧血（33.3％）最為常見。而於8位曾接受上胃腸道檢查的患者中，有例（50％）發現有胃及／或十二指腸的息肉。追蹤至目前，除兩例未接受手術治療，其中一例並失去追蹤，另一例死於敗血性休克外，其它病例，則有兩例（有無家族病史者各一例）死於大腸癌，而死亡的病例，其發病年齡均大於50歲。對於罹患此病的患者，應詳細記錄及建立其家族病史。另外，其家族的直系血親，均應接受染色體，視網膜的色素表皮及直腸、大腸鏡的檢查，以早期診斷此病，並接受大腸切除的手術治療，以避免大腸癌的發生，並降低此病的殘病率及死亡率。

關鍵字

家族性腺瘤息肉群症；正染色體顯性遺傳；大腸直腸癌

並列摘要

Family adenomatous polyposis (FAP) is a rare hereditary autosomal dominant disorder. Patient who carries with the disorder has almost a 100% risk of colorectal cancer. Since January 1980 to December 1992, there were 15 patients, including 13 male and 2 female, in 13 family were diagnosed as the disease in our hospital. In our patients, 10 cases had family history but 5 cases had no evident of family history could be traced (spontaneous mutation). The average age at the diagnosis, the former is 31.0 and the later is 57.4 respectively. Mainly clinical presentations are gastrointestinal bleeding 86.7%, diarrhea 80%, abdominal pain 40% and anemia 33.3%. Of the patients, 4 cases have gastric or duodenal polyps or both; 8 cases occurred colorectal cancer, whose mean age at the time of the diagnosis is 43.1. There are no extracolonic manifestations (Gardner's syndrome) in this series. Until now, 2 patients, who are eldly, died of colorectal cancer and another died of septic shock.

並列關鍵字

Family adenomatous polyposis ； Autosomal dominant inheritary ； Colorectal cancer

國際替代計量

Family Adenomatous Polyopsis-Clinical Experience in Tri-Service General Hospital

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