Officially called adenomatous polyposis coli the classic FAP or familial adenomatous polyposis is a genetic disorder. With the development of more than hundreds of adenomatous polyps throughout the colon, the FAP syndrome, if left untreated, will develop into cancer by 40 years of age.
Another mutation related to the APC gene is a desmoid tumour. Desmoid tumours are rare and benign growths that arise in the connective tissues responsible for providing strength and flexibility to the body structure.
Patients with FAP are asymptomatic till the development of cancer. Most of the patients present with a family history of colorectal cancer. Other symptoms noticed could be haematocazia, abdominal pain and diarrhoea.
Additional imaging to look for other anomalies:
Genetic testing : gene sequencing, in vitro protein synthesis assay, linkage testing
Surgical therapy includes colectomy with mucosal proctectomy with ileal pouch-anal anastomosis. This procedure retains the rectal function and is a popular choice of treatment. Other surgical options may include subtotal colectomy and a total proctocolectomy. All the family members of the patient should be screened with a colonoscopy for the presence of polyp. They also should undergo surgical removal of the large intestine and ileal pouch-anal anastomosis. As the risk of development of cancer is 100% in all these patients, the timing of surgery is also important.
We conduct the laparoscopic removal of the entire colon and does pouch-anal anastomosis through minimally invasive techniques. We also initiate appropriate genetic counselling for the patients and family members with a view that affected patients benefit from additional psychological interventions.Authored by Dr. Deepak Varma, MBBS, MS (General Surgery)
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