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Familial Polyposis Coli

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 the desmoid tumour. Desmoid tumours are rare and benign growths that arise in the connective tissues responsible for providing strength and flexibility to body structure.

Signs And Symptoms

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.

Diagnosis

Physical examination:

  • Palpable abdominal mass in cases of cancers
  • Rectal examination can also shows a palpable mass

Imaging studies:

  • Flexible sigmoidoscopy
  • Colonoscopy
  • Oesophagogastroduodenoscopy front-and-side-viewing

Additional imaging to look for other anomalies:

  • Dental and skull x-rays
  • CT scan of the abdomen with oral and IV contrast
  • Ultrasound of the thyroid

Lab studies:

Genetic testing : gene sequencing, in vitro protein synthesis assay, linkage testing

Treatment

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.

Dr. Deepak Varma conducts laparoscopic removal of entire colon and does pouch anal anastomosis through minimally invasive techniques. He also initiates appropriate genetic counseling for the patients and family members with a view that affected patients benefit from additional psychological interventions.