Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Familial adenomatous polyposis
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Cause
    • Inheritance
    • Diagnosis
    • Treatment
    • Statistics
    • Find a Specialist
    • Related Diseases
    • Research
    • Organizations
    • Learn More
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Familial adenomatous polyposis


Title


How can we make GARD better? We want to hear from you.
Provide Feedback

Other Names:
Adenomatous polyposis coli; FAP; Familial adenomatous polyposis of the colon; Adenomatous polyposis coli; FAP; Familial adenomatous polyposis of the colon; Familial polyposis of the colon; Polyposis, adenomatous intestinal; FPC; Adenomatous polyposis of the colon; Familial intestinal polyposis; Familial multiple polyposis; Hereditary polyposis coli; Familial polyposis coli See More
Categories:
Hereditary Cancer Syndromes; Rare Cancers
Subtypes:
Gardner syndrome

Summary Summary


Listen
Familial adenomatous polyposis (FAP) leads to the growth of hundreds to thousands of non-cancerous (benign) polyps in the colon and rectum. Overtime, the polyps can become cancerous (malignant), leading to colorectal cancer at an average age of 39 years. Symptoms of FAP may include dental abnormalities, tumors of the connective tissue (desmoid tumors), and benign and malignant tumors of the duodenum (a section of the small intestine), liver, bones, skin, and other tissues. Attenuated familial adenomatous polyposis (AFAP) is a milder form of FAP which includes fewer colon polyps (an average of 30). People with AFAP have an increased risk of developing colon cancer at a later age than classic FAP. FAP is due to genetic variants in the APC gene and is inherited in an autosomal dominant pattern. FAP is diagnosed based on the symptoms, clinical examination, and may be confirmed by the results of genetic testing. Management for FAP includes regular colon screening with endoscopy and other methods. Total removal of the colon (colectomy) is usually recommended to substantially reduce the risk for colon cancer. The recommended timing of surgery is based on multiple factors.[1][2][3][4]
Last updated: 12/31/2020

Symptoms Symptoms


Listen
The following list includes the most common signs and symptoms in people with familial adenomatous polyposis (FAP). These features may be different from person to person, even within the same family. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms may include:[1][2][3]
  • Hundreds to thousands of noncancerous growths (benign polyps) in the colon
  • Colon cancer
  • Polyps of the stomach
  • Adenomatous polyps of the small intestines
  • Benign bone tumors (osteomas)
  • Dental abnormalities
  • A pigmented spot within the outer layer of the retina (Congenital hypertrophy of the retinal pigment epithelium-CHRPE)
  • Benign skin abnormalities
  • Desmoid tumors
  • Other types of cancer (small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland)
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) may be present at birth, but can only be seen with an eye exam. Colon polyps usually appear in the teens, and left untreated, most people with FAP will develop colon cancer by their late 30s or early 40s. 
Last updated: 12/31/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 31 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Adenomatous colonic polyposis 0005227
Duodenal polyposis 0004783
Multiple gastric polyps 0004394
30%-79% of people have these symptoms
Colon cancer 0003003
5%-29% of people have these symptoms
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ]
0000670
Congenital hypertrophy of retinal pigment epithelium 0007649
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
0000684
Epidermoid cyst
Skin cyst
0200040
Fibroadenoma of the breast 0010619
Fibroma 0010614
Increased number of teeth
Extra teeth
Increased tooth count
Supplemental teeth
[ more ]
0011069
Irregular hyperpigmentation 0007400
Multiple lipomas
Multiple fatty lumps
0001012
Neoplasm of the central nervous system
Tumors of the central nervous system
0100006
Odontoma 0011068
Osteoma 0100246
Unerupted tooth
Failure of eruption of tooth
0000706
1%-4% of people have these symptoms
Adrenocortical adenoma 0008256
Desmoid tumors 0100245
Duodenal adenocarcinoma 0006771
Hepatoblastoma 0002884
Medulloblastoma 0002885
Papillary thyroid carcinoma 0002895
Percent of people who have these symptoms is not available through HPO
Adrenocortical carcinoma 0006744
Astrocytoma 0009592
Autosomal dominant inheritance 0000006
Carcinoma 0030731
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Keloids 0010562
Small intestine carcinoid 0006722
Variable expressivity 0003828
Showing of 31 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021

Cause Cause


Listen
Familial adenomatous polyposis occurs when the APC gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1]
Last updated: 12/31/2020

Inheritance Inheritance


Listen
Familial adenomatous polyposis is inherited in an autosomal dominant pattern.[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The variant can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo), and there is no history of this condition in the family.
  
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the variant and the condition.  Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent.  Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition.

Last updated: 12/31/2020

Diagnosis Diagnosis


Listen
Familial adenomatous polyposis (FAP) is diagnosed based on the symptoms, clinical examination, and may be confirmed by the results of genetic testing. Imaging studies of the colon by endoscopy such as flexible sigmoidoscopy, colonoscopy, or other methods may also be helpful. Prenatal testing and genetic testing for at-risk relatives are possible if the disease-causing mutation in the family is known. Because colon screening for those at risk for classic FAP begins as early as age ten years, genetic testing is generally offered to children by this age. Testing may be offered earlier if the child is showing signs or symptoms of FAP.[1]

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 12/31/2020

Treatment Treatment


Listen
Treatment of familial adenomatous polyposis (FAP) is focused on managing the risk for colon cancer.  Screening for colon cancer and polyps by endoscopy may begin in childhood. There is the option to remove the colon (colectomy) before colon cancer develops. The timing of this surgery is based on multiple factors. Guidelines for treatment and management of FAP and other polyposis conditions have been developed and published.[4][5]

Specialists involved in the care of someone with familial adenomatous polyposis may include:
  • Medical geneticist
  • Gastroenterologist
  • Surgeon
  • Orthopedic surgeon
  • Ophthalmologist
  • Dentist
Last updated: 12/31/2020

Statistics Statistics


Listen
It has been estimated that between one in 7000 to one in 300,000 people is born with familial adenomatous polyposis.[1][2]
Last updated: 12/31/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


Listen

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases


Listen

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other disorders causing multiple polyps (Peutz-Jeghers syndrome, familial juvenile polyposis or hyperplastic polyposis, hereditary mixed polyposis syndrome, and Lynch syndrome; see these terms).
Visit the Orphanet disease page for more information.

Research Research


Listen

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Familial adenomatous polyposis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Familial adenomatous polyposis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Familial adenomatous polyposis:
    DTRF Desmoid Tumor Patient Registry
     

Organizations Organizations


Listen

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • AMC Cancer Research Center
    3401 Quebec St, Suite 3200
    Denver, CO 80207
    Toll-free: 800-321-1557
    Telephone: 303-233-6501
    Fax: 303-239-3400
    E-mail: contactus@amc.org
    Website: http://www.amc.org/
  • Colon Cancer Alliance
    1025 Vermont Ave, NW
    Suite 1066
    Washington, DC 20005
    Toll-free: (877) 422-2030 (Helpline)
    Telephone: +1-202-628-0123 (Office)
    Website: https://www.ccalliance.org/
  • Fight Colorectal Cancer
    134 West Park Central Square
    Suite 210
    Springfield, MO 65806
    Toll-free: 1-877-427-1211 (Helpline)
    Telephone: +1-703-548-1225 (Office)
    E-mail: Info@FightCRC.org
    Website: https://fightcolorectalcancer.org/
  • IMPACC (Intestinal Multiple Polyposis and Colorectal Cancer)
    P.O. Box 11
    Conyngham, PA 18219
    Telephone: 570-788-3712
    Fax: 717-788-1818
  • The J-Pouch Group
    Website: http://www.jpouch.org/

Organizations Providing General Support

  • American Cancer Society
    250 Williams Street NW
    Atlanta, GA 30329
    Toll-free: 1-800-227-2345
    Website: https://www.cancer.org
  • Cancer Hope Network
    2 North Road, Suite A
    Chester, NJ 07930
    Toll-free: 1-877-467-3638 (1-877-HOPENET)
    Telephone: +1-908-879-4039
    Fax: +1-908-879-6518
    E-mail: info@cancerhopenetwork.org/
    Website: https://www.cancerhopenetwork.org/
  • Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC)
    E-mail: https://www.cgaigc.com/contact
    Website: http://www.cgaigc.com
  • Hereditary Colon Cancer Foundation
    3519 NE 15th Avenue
    Unit 518
    Portland, OR 97212
    Telephone: +1-334-740-8657
    E-mail: info@HCCTakesGuts.org
    Website: https://www.hcctakesguts.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


Listen

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus Genetics contains information on Familial adenomatous polyposis. This website is maintained by the National Library of Medicine.
  • The Merck Manual provides information on this condition for patients and caregivers. 
  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Familial adenomatous polyposis.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial adenomatous polyposis. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


Listen

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Jasperson KW, Patel SG, Ahnen DJ. APC-Associated Polyposis Conditions. GeneReviews. Updated Feb 2, 2017; http://www.ncbi.nlm.nih.gov/books/NBK1345/.
  2. Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA. Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.. Arch Pathol Lab Med. Nov 2019; 143(11):1382-1398. https://pubmed.ncbi.nlm.nih.gov/31070935/.
  3. Carr S, Kasi A.. Familial Adenomatous Polyposis. StatPearls. Nov 24, 2020; https://pubmed.ncbi.nlm.nih.gov/30855821/.
  4. Provenzale D, Gupta S, Ahnen DJ, Bray T, Cannon JA, Cooper G, David DS, et al. Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. Aug 2016; 14(8):1010-30. https://pubmed.ncbi.nlm.nih.gov/27496117/.
  5. Hyer W, Cohen S, Attard T, Vila-Miravet V, Pienar C, Auth M, Septer S, et al. Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. Mar 2019; 68(3):428-441. https://pubmed.ncbi.nlm.nih.gov/30585891/.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen