Gardner Syndrome (Familial Adenomatous Polyposis) – A rare Disease

Gardner Syndrome (Familial Adenomatous Polyposis) – A rare Disease

Gardner Syndrome have described by Doctor Elton Gardner and his colleague Doctor Richards in year 1951. This disease is a rare disease that have reported in 1 of 1.000.000 people. It has an autosomal dominant inheritance. With it, it caused by a genetic defect in chromosome 5 also. The presence of this disease in any family members, will cause %50 diseased and %50 healthy persons because of autosomal inheritance. With it, %30 rate to this disease can caused by sporadic mutation and there have no family story also. The age 9 is the earliest cancer age that have recorded.

Gardner Syndrome management:

It is necessary to total colectomy, removing the whole of the large intestine, in patients who have diagnosed with malignancy, because by observation may seen hundreds of colonic polyps.

Because the malignancy started before the age of 40, colonoscopy should performed at least once or twice in a year, to the people that have presence of family history.  All polyps that have seen during colonoscopy should removed. If any malignancy have encountered in the pathology, total colectomy should planned.

In these patients, there are some findings that will alert the doctor before the development of malignancy. Benign bone osteomas, epidermal cysts, dermoid tumors, thyroid cancers, kidney cancers, small bowel tumors, pancreatitis, ovarian cysts, fibromas and neurofibromas can observed before development of malignency. If these findings have observed and the patients parents have this disease, it can assumed that the patient have this disease also. In fundoscopy congenital hypertrophy retinal pigment epithelium may seen, this sign have called black spots in retina. Black spot sign is an important finding for diagnosis. %80-90 of these tumors are localized in the left colon like other colon tumors.

Gardner Syndrome surgical management:

  • At least 4 units of erythrocyte suspension should prepared.
  • Cardiac preparation is necessary. The patient should consulted to a heart doctor before surgery.
  • Lung care must performed before surgery. Lung exercises should started at least 2-3 days before surgical procedure.

Gardner Syndrome following-up:

  • The presence of Gardner’s syndrome in any family member is a high risk factor for all children and siblings. For these reason, screening should be done for all these persons.
  • Eye examination must performed and clinical findings should investigated. Fundoscopic examination to all these patients should performed. If black spot finding will seen, total colectomy should planned at 25-30 years of age range.
  • Colonoscopy should planned for all individuals more than 10-12 year of age.
  • Colonoscopy should repeated twice a year for this disease, and total colectomy must performed immediately in the presence of any suspicious condition.
  • These patients should consulted to a psychiatrist and psychological support must provided.
  • A nonsteroidal anti-inflammatory agent Sulindac will helpful. This drug reduces the formation of polyps and the formed polyps may going smaller to some extent.
  • Drugs such as vitamin C and aspirin have also beneficial.

Gardner Syndrome lifespan:

Gardner Syndrome life expectancy in untreated patients is about 42 years. With it, with appropriate treatment these patients can live up to 70 years also.

To read about Pierre Robin Syndrome click this link

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