DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Gastroenterologic Disease

Familial Adenomatous Polyposis (FAP)

HIGH SEVERITY

An inherited disorder characterized by hundreds to thousands of adenomatous polyps in the colon and rectum. Without intervention, nearly 100% risk of colorectal cancer. Associated with APC gene mutation.

Global Affected

150.0K

Countries

19

Symptoms

Usually asymptomatic early
Rectal bleeding
Diarrhea
Abdominal pain
Weight loss
Anemia
Extracolonic manifestations (osteomas, CHRPE)

Treatment Options

Prophylactic colectomy
IRA (ileorectal anastomosis)
IPAA (ileal pouch-anal anastomosis)
Chemoprevention (sulindac, celecoxib)
Endoscopic surveillance
Upper GI surveillance
Thyroid monitoring
Desmoid tumor treatment

Risk Factors

1APC gene mutation (inherited)
2De novo mutation (20%)
3Family history
4Attenuated FAP variant

Diagnostic Methods

  • 1Colonoscopy
  • 2Genetic testing (APC gene)
  • 3Flexible sigmoidoscopy
  • 4Upper endoscopy
  • 5CT/MRI (desmoid tumors)
  • 6Ophthalmologic exam (CHRPE)

Prognosis

Excellent with prophylactic surgery and surveillance. Life expectancy near normal with appropriate management. Risk of desmoid tumors after surgery. Upper GI cancers require ongoing surveillance. Attenuated FAP has later onset.

Prevention

  • Genetic counseling
  • Genetic testing
  • Prophylactic surgery
  • Regular surveillance
  • Family screening
  • Chemoprevention

Research Status

Prophylactic colectomy is standard of care. Sulindac and celecoxib may reduce polyp burden. Aspirin for chemoprevention. Regular surveillance of upper GI tract. Desmoid tumor management challenging. Genetic testing essential for family screening.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoIndiaChinaRussiaSwedenNetherlandsNorwayFinlandDenmark

Sources

  • https://www.cancer.org/cancer/familial-adenomatous-polyposis.html
  • https://www.mayoclinic.org/diseases-conditions/familial-adenomatous-polyposis
  • https://www.niddk.nih.gov/health-information/digestive-diseases/colon-polyps

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.