Dr B. P. Nag

Introduction: Familial adenomatous polyposis(FAP) is an autosomal dominant disorder in which patient develops numerous colorectal adenomas as teenagers .It is caused by mutations of the adenomatous polyposis coli or APC gene. Atleast 100 polyps are necessary for a diagnosis of classic FAP and as many as several thousand may be present. Colorectal adenocarcinoma develops in 100% of untreated FAP patients before age 30. Material and methods: A 36 year old male presented with swelling in abdomen, increased frequency of stools & a positive family history of similar complaints. Sigmoidoscopy of sigmoid colon reveals multiple sessile polyps of varying size along with a large prolif- erative friable growth. Superficial biopsy was taken & subjected to histpathology examination. And later a full colectomy was done. Results: Superficial biopsy shows features consistent with an intramucosal carcinoma. Later, Colectomy specimen was received. On gross examination, colon is studded with numerous sessile polyps measuring 0.5 to 0.7 cm in diameter .An ulcerated area is also seen. On microscopic examination features were in favour of moderately differentiated adenocarcinoma. Discussion: Familial adenomatous polyposis is an inherited disorder characterized by cancer of large intestine and rectum and ac- counts for 1 percent of all cases of colorectal cancer. Most individuals with APC mutation will develop colon cancer by the age of 30.Therefore prophylactic surgery is generally recommended before the age of 25.Making the diagnosis of FAP before the develop- ment of colon cancer is important not just for individual, but also for the sake of other family members who may be affected.