Medical Care
Most medical care for patients diagnosed with Gardner syndrome involves screening on a regular basis for the occurrence of the previously mentioned tumors. These screening tools, previously discussed above, include the use of colonoscopy and flexible sigmoidoscopy to detect the presence of polyps, EGD to detect polyps in the upper GI tract, plain radiography to screen for osteomas and dental abnormalities, and ultrasonography to screen for thyroid and abdominal masses.
Typically, patients diagnosed with Gardner syndrome should undergo yearly colonoscopy starting between ages 10-12 years to screen for polyps. Once detected, endoscopic resection is recommended to remove large polyps in patients prior to resection of the colon. This is especially important because surgical resection of the colon, which is the treatment of choice, is often delayed in younger patients until they are old enough to understand the physical and psychological ramifications of the disease process.
Screening for upper GI polyps using EGD is typically recommended every 1-3 years after the diagnosis is made. Pigmented lesions of the gastric fundus are common findings on endoscopy in infants and are often the first sign of disease. Performing specific surveillance of the peri-ampullary region after adolescence is important.
Capsule endoscopy (CE) may have limited use in screening for rare jejunal-ileal polyps in these patients. However, screening for duodenal polyps is not useful because polyps identified endoscopically are often missed or underestimated by CE. Identifying the ampulla of Vater by CE is also difficult; thus, periampullary carcinomas may also be missed. [15]
Nonsteroidal anti-inflammatory drugs (NSAIDs) also play a role in the treatment of FAP and Gardner syndrome. This topic is discussed more thoroughly below.
Remember that Gardner syndrome is an inherited condition; thus, the family members of an affected individual should be screened for the disease as well.
Surgical Care
Surgical care is the treatment of choice in patients with Gardner syndrome. As the development of colorectal cancer in these patients is essentially 100% without treatment, total colectomy is the proven treatment of choice for prevention of cancer.
Currently, colectomy with mucosal proctectomy and ileoanal pouch pull-through is the mainstay of treatment. This procedure is useful because it allows retention of rectal function. However, annual screening for the presence of polyps using flexible sigmoidoscopy is important if this procedure is performed.
In patients who develop duodenal polyp disease, endoscopic resection or local surgical resection often results in recurrence and is not an effective treatment. [16] Johnson et al concluded that definitive resection in the form of pancreaticoduodenectomy, pancreas-sparing duodenectomy, or segmental duodenectomy offers the best chance for polyp eradication and prevention of carcinoma, regardless of polyp etiology.
Fibromatosis can present a challenge in terms of management. For extra-abdominal fibromatosis, surgery is the first-line treatment. For intra-abdominal fibromatosis, often the best treatment is complete surgical resection in combination with radiation to the affected area. However, complete resection of the tumor is challenging due to location (ie, retroperitoneum, abdominal wall). [17] Thus, medical management with sulindac or chemotherapeutic agents may be used in cases in which surgical management is unlikely to be effective. [18] Local recurrence is very common with these tumors.
Consultations
Consultations with both gastroenterologists and geneticists are important in the management of Gardner syndrome. Gastroenterologists must be consulted to ensure proper screening through colonoscopic and EGD surveillance. Geneticists should screen family members who may be affected with the disease.
Dental consultation may be necessary in those patients affected with dental abnormalities.
Dermatologic consultation may prove useful to ensure proper removal of epidermal cysts for cosmetic purposes.
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Colon, polyposis syndromes: polyposis coli. Postevacuation image obtained after double-contrast barium enema study shows extensive polyposis of the colon.
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Endoscopic images showing multiple large intestinal polyps in a patient with Gardner syndrome. Courtesy of Christina Surawicz, MD, Harborview Medical Center, Seattle, Wash.
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Surgical specimen of the colon in a patient with familial polyposis after total colectomy with ileoanal anastomosis. Note the carpetlike appearance of the mucosa covered with polyps.
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High-power view of a tubular adenoma. Courtesy of G. Warren, MD, Rose Medical Center, Denver, Colo.
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Villous adenoma showing fingerlike projections stretching from the surface of a polyp downward with minimal branching. Courtesy of D. Owen, MD.
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Plain lateral skull radiograph in a patient with known Gardner syndrome shows a large osteoma in the occipital region (arrows).
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Bland fibrocytic cells of a desmoid tumor growing in a haphazard-to-storiform manner and producing collagen (hematoxylin-eosin, original magnification X100).
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Cyst containing keratinous material (hematoxylin and eosin, original magnification X1.6).
