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Pediatric Gardner Syndrome Treatment & Management

  • Author: Michael Gilger, MD; Chief Editor: Carmen Cuffari, MD  more...
 
Updated: Aug 06, 2015
 

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.

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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.

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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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Contributor Information and Disclosures
Author

Michael Gilger, MD Gastrointestinal Pathologist, Colorado GI Pathology, Centennial Pathologists

Michael Gilger, MD is a member of the following medical societies: American Society for Clinical Pathology, College of American Pathologists, United States and Canadian Academy of Pathology

Disclosure: Nothing to disclose.

Coauthor(s)

Mark A Gilger, MD Professor of Pediatrics, Chief of Pediatric Gastroenterology, Hepatology and Nutrition, Director of Clinical Fellowship Training in Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine; Chief, Gastroenterology and Nutrition Service, Texas Children’s Hospital

Mark A Gilger, MD is a member of the following medical societies: American Academy of Pediatrics, American Society for Gastrointestinal Endoscopy, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Crohn's and Colitis Foundation of America

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Additional Contributors

Jorge H Vargas, MD Professor of Pediatrics and Clinical Professor of Pediatric Gastroenterology, University of California, Los Angeles, David Geffen School of Medicine; Consulting Physician, Department of Pediatrics, University of California at Los Angeles Health System

Jorge H Vargas, MD is a member of the following medical societies: American Liver Foundation, Latin American Society of Pediatric Gastroenterology, Hepatology & Nutrition, American Society for Gastrointestinal Endoscopy, American Society for Parenteral and Enteral Nutrition, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

References
  1. Haggitt RC, Reid BJ. Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol. 1986 Dec. 10(12):871-87. [Medline].

  2. Wehrli BM, Weiss SW, Yandow S, Coffin CM. Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis. Am J Surg Pathol. 2001 May. 25(5):645-51. [Medline].

  3. Lynch HT, Thorson AG, McComb RD, Franklin BA, Tinley ST, Lynch JF. Familial adenomatous polyposis and extracolonic cancer. Dig Dis Sci. 2001 Nov. 46(11):2325-32. [Medline].

  4. Giardiello FM, Offerhaus GJ, Lee DH, Krush AJ, Tersmette AC, Booker SV. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut. 1993 Oct. 34(10):1394-6. [Medline].

  5. Bienz M. APC. Curr Biol. 2003 Mar 18. 13(6):215-6. [Medline].

  6. Turina M, Pavlik CM, Heinimann K, Behrensmeier F, Simmen HP. Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years. Int J Colorectal Dis. 2013 Jun. 28(6):865-72. [Medline].

  7. Knudson AG. Two genetic hits (more or less) to cancer. Nat Rev Cancer. 2001 Nov. 1(2):157-62. [Medline].

  8. Huss S, Nehles J, Binot E, Wardelmann E, Mittler J, Kleine MA, et al. ß-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology. 2013 Jan. 62(2):294-304. [Medline].

  9. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001 Jul. 121(1):198-213. [Medline].

  10. Offerhaus GJ, Giardiello FM, Krush AJ, Booker SV, Tersmette AC, Kelley NC, et al. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology. 1992 Jun. 102(6):1980-2. [Medline].

  11. Sturt NJ, Clark SK. Current ideas in desmoid tumours. Fam Cancer. 2006. 5(3):275-85; discussion 287-8. [Medline].

  12. Heiskanen I, Järvinen HJ. Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment. Int J Colorectal Dis. 1996. 11(4):157-62. [Medline].

  13. Cancer Facts & Figures 2010. American Cancer Society. Available at http://www.cancer.org/acs/groups/content/@epidemiologysurveilance/documents/document/acspc-026238.pdf. Accessed: Jan 2, 2011.

  14. Douma KF, Bleiker EM, Aaronson NK, Cats A, Gerritsma MA, Gundy CM. Long-term compliance with endoscopic surveillance advice for familial adenomatous polyposis (FAP). Colorectal Dis. 2009 Jul 10. [Medline].

  15. Iaquinto G, Fornasarig M, Quaia M, Giardullo N, D'Onofrio V, Iaquinto S, et al. Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis. Gastrointest Endosc. 2008 Jan. 67(1):61-7. [Medline].

  16. Johnson MD, Mackey R, Brown N, Church J, Burke C, Walsh RM. Outcome based on management for duodenal adenomas: sporadic versus familial disease. J Gastrointest Surg. 2010 Feb. 14(2):229-35. [Medline].

  17. Loccufier A, Vanhulle A, Moreels R, Deruyter L, Legley W. Gardner syndrome and desmoid tumors. Acta Chir Belg. 1993 Sep-Oct. 93(5):230-2. [Medline].

  18. Jones IT, Jagelman DG, Fazio VW, Lavery IC, Weakley FL, McGannon E. Desmoid tumors in familial polyposis coli. Ann Surg. 1986 Jul. 204(1):94-7. [Medline]. [Full Text].

  19. Half E, Arber N. Colon cancer: preventive agents and the present status of chemoprevention. Expert Opin Pharmacother. 2009 Feb. 10(2):211-9. [Medline].

  20. Lynch PM, Ayers GD, Hawk E, Richmond E, Eagle C, Woloj M. The safety and efficacy of celecoxib in children with familial adenomatous polyposis. Am J Gastroenterol. 2010 Jun. 105(6):1437-43. [Medline].

  21. Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008 May. 57(5):704-13. [Medline].

  22. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006 Feb. 101(2):385-98. [Medline].

  23. Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Tanaka K, Takahashi H, et al. Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis. Cancer Res. 1993 Nov 1. 53(21):5079-82. [Medline].

  24. Soravia C, Berk T, McLeod RS, Cohen Z. Desmoid disease in patients with familial adenomatous polyposis. Dis Colon Rectum. 2000 Mar. 43(3):363-9. [Medline].

 
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Colon, polyposis syndromes: polyposis coli. Postevacuation image obtained after double-contrast barium enema study shows extensive polyposis of the colon.
Endoscopic images showing multiple large intestinal polyps in a patient with Gardner syndrome. Courtesy of Christina Surawicz, MD, Harborview Medical Center, Seattle, Wash.
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.
High-power view of a tubular adenoma. Courtesy of G. Warren, MD, Rose Medical Center, Denver, Colo.
Villous adenoma showing fingerlike projections stretching from the surface of a polyp downward with minimal branching. Courtesy of D. Owen, MD.
Plain lateral skull radiograph in a patient with known Gardner syndrome shows a large osteoma in the occipital region (arrows).
Bland fibrocytic cells of a desmoid tumor growing in a haphazard-to-storiform manner and producing collagen (hematoxylin-eosin, original magnification X100).
Cyst containing keratinous material (hematoxylin and eosin, original magnification X1.6).
 
 
 
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