II. Types

  1. Familial Adenomatous Polyposis (Adenomatous Polyposis Coli, MYH-Associated polyposis)
    1. Synchronous advanced adenomas numbering >100
    2. Prevalence: 3 in 100,000
    3. Diagnosed on average by age 39 years old
    4. Colonrectal cancer develops in 87% by age 45 years old (without colectomy)
  2. Attenuated Familial Adenomatous Polyposis
    1. Synchronous advanced adenomas numbering 10-99
    2. Diagnosed on average by age 58 years
    3. Colorectal Cancer develops 69% by age 80 years old (without colectomy)
  3. MUTYH-Associated Polyposis (<100 Colorectal Adenomas)
    1. Autosomal Recessive risk for Colorectal Cancer
    2. Prevalance: <1 in 10,000 (U.S.)
    3. Colorectal Cancer presents typically by age 50-70 years old
    4. Colorectal Cancer risk 19% by age 50, 43% by age 60 years and 100% lifetime risk

III. Management

  1. Familial Adenomatous Polyposis (>100 synchronous advanced adenomas)
    1. Counseling to consider genetic testing
    2. Early surveillance
      1. Flexible Sigmoidoscopy starting at Puberty (age 10-12 years)
      2. Repeat Flexible Sigmoidoscopy every 1-2 years until polyp found, then Colonoscopy
      3. Colonoscopy annually until colectomy
    3. Genetic Testing positive or polyposis confirmed
      1. Consider colectomy or
      2. Endoscopy every year
    4. Genetric testing negative (or not performed) and no polyposis
      1. Screen every year until age 24 years, then
      2. Screen every 2 years from age 24 to 34 years old, then
      3. Screen every 3 years until age 44 years, then
      4. Screen every 3-5 years after age 44 years old
  2. Attenuated Familial Adenomatous Polyposis (10-99 synchronous advanced adenomas)
    1. Colonoscopy every 1-2 years starting by late teens to early 20s
      1. Proximal polyp distribution (Flexible Sigmoidoscopy is insufficient)
  3. MUTYH-Associated Polyposis (<100 Colorectal Adenomas)
    1. Colonoscopy starting by late teens to early 20s and repeated every 1-2 years
    2. Colectomy when polyps cannot be controlled with endoscopy

IV. Management: Other screening

  1. Upper endoscopy (for Gastric Cancer, proximal Small Bowel tumor) starting at age 25 years
  2. Annual Thyroid exam and consider thyroid Ultrasound

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Ontology: Adenomatous Polyposis Coli (C0032580)

Definition (MSHCZE) zkr. FAP – autozomálně dominantně dědičné onemocnění tlustého střeva s výskytem mnohočetných polypů – adenomů v tlustém střevě, které později malignizují. Gen je tzv. APC na 5. chromozomu. Možností je chirurgické odstranění tlustého střeva ev. i s rektem a genetické vyšetření. Mohou se vyskytovat i malignity jiných orgánů. Srov. Gardnerův syndrom. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI_NCI-GLOSS) An inherited condition in which numerous polyps (growths that protrude from mucous membranes) form on the inside walls of the colon and rectum. It increases the risk for colon cancer.
Definition (NCI) An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea.
Definition (MSH) A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. The lifetime risk of colorectal cancer in these patients reaches 100 percent by age 60.
Concepts Neoplastic Process (T191)
MSH D011125
ICD10 M8220/0
SnomedCT 423471004, 188828009, 269636003, 154609001, 70921007, 72900001
English Adenomatous Polyposis Coli, Polyposis Coli, Familial, Polyposis Syndrome, Familial, Familial Adenomatous Polyposis Coli, Adenomatous Polyposis Coli, Familial, APC - Adenoma polyposis coli, FAP - Fam adenoma polyposis, MYH-associated polyposis, MAP - MYH associated polyposis, MYH-associated polyposis (disorder), [M]Adenomatous polyposis coli, [M]Familial polyposis coli, FAP (familial adenomatous polyposis), familial polyposis coli, adenomatous polyposis coli of large intestine, adenomatous polyposis coli of large intestine (diagnosis), adenomatous polyposis coli, Colus, Adenomatous Polyposis, Polyposis Coli, Adenomatous, Familial Adenomatous Polyposes, Polyposis, Familial Adenomatous, Familial Multiple Polyposus, Multiple Polyposus, Familial, Polyposus, Familial Multiple, Adenomatous Polyposes, Familial, Familial Polyposis Syndromes, Polyposi, Familial Multiple, Coli, Hereditary Polyposis, Polyposis Coli, Hereditary, Polyposes, Familial Adenomatous, Polyposis Colus, Adenomatous, Familial Polyposis Colus, Familial Polyposis of the Colon, Coli, Familial Polyposis, Colus, Familial Polyposis, Polyposis Colus, Familial, Hereditary Polyposis Coli, Hereditary Polyposis Colus, Polyposis Colus, Hereditary, Adenomatous Polyposis Colus, Coli, Adenomatous Polyposis, Familial Multiple Polyposi, Multiple Polyposi, Familial, Colus, Hereditary Polyposis, Familial Adenomatous Polyposis of the Colon, Adenomatous Polyposis Coli [Disease/Finding], familial polyposis syndrome, fap, familial intestinal polyposis, polyposis familial, adenomatous coli polyposis, adenomatous polyposis, polyposis coli, Adenomatous Polyposis of the Colon, Polyposes, Myh-Associated, Polyposis Colus, Multiple Polyposes, Familial, Familial Multiple Polyposes, Myh-Associated Polyposes, Polyposis, Myh-Associated, Familial Multiple Polyposis Syndrome, Familial Multiple Polyposis, Polyposis Coli, Colus, Polyposis, Multiple Polyposis, Familial, Familial Polyposis Syndrome, Polyposis, Familial Multiple, Polyposes, Familial Multiple, Myh Associated Polyposis, Coli, Polyposis, Myh-Associated Polyposis, familial polyposis, familial adenomatous polyposis, Familial polyposis, Familial Polyposis Coli, Adenomatous Polyposis, Familial, Familial Adenomatous Polyposis, Familial polyposis coli, Adenomatous polyposis coli, Familial multiple polyposis syndrome, APC - Adenomatous polyposis coli, Adenomatous polyposis, FAP - Familial adenomatous polyposis, FPC - Familial polyposis coli, Familial adenomatous polyposis, Polyposis coli, Familial multiple polyposis syndrome (disorder), Adenomatous polyposis coli (morphologic abnormality), familial adenomatous polyposis (APC), FAP, colon; polyposis coli, familial; polyposis, polyposis; colon, polyposis; familial, Familial Adenomatous Polyposis Syndrome, Hereditary Adenomatous Polyposis Coli, APC - Adenomatous Polyposis Coli
Dutch familiale adenomateuze polypose, polyposis coli, familiale polypose, coli; polyposis, familiaal; polyposis, polyposis; coli, polyposis; familiaal, adenomateuze polyposis coli, Adenomateuze polyposis coli, Polyposis coli, adenomateuze, Polyposis coli, familiale, Polyposissyndroom, familiaal
French Polypose familiale, Polypose colique, Polypose colique familiale adénomateuse, Polypose diffuse essentielle rectocolique, Adénomatose recto-colique familiale, Adénomatose rectocolique familiale, Polyadénomatose recto-colique familiale, Polyadénomatose rectocolique familiale, Polypose adénomateuse colique familiale, Polypose adénomateuse colique, Polypose adénomateuse du colon, Polypose adénomateuse familiale, Polypose recto-colique familiale, Polypose rectocolique familiale
German Familiaere Polyposis, Polyposis coli, familiaere adenomatoese Polypose, Polyposis familiaris, Adenomatosis coli, Polyposis coli, familiäre
Italian Poliposi familiare, Poliposi familiare del colon, Sindrome da poliposi familiare, Poliposi adenomatosa del colon, Poliposi adenomatosa familiare, Poliposi adenomatosa familiare del colon, Poliposi del colon
Portuguese Polipose do cólon, Polipose familiar, Polipose familiar adenomatosa, Polipose Adenomatosa do Cólon, Polipose Familiar do Cólon, Poliposa colón adenomatosa, Síndrome da Polipose Familiar, Polipose Familiar do Colo, Polipose Adenomatosa do Colo
Spanish Poliposis familiar adenomatosa, Poliposis familiar, Poliposis coli, poliposis asociada al gen MYH, poliposis asociada al gen MYH (trastorno), (M)poliposis colónica familiar, poliposis adenomatosa del colon (anomalía morfológica), poliposis adenomatosa del colon, poliposis colónica familiar, síndrome de poliposis múltiple familiar (trastorno), síndrome de poliposis múltiple familiar, Poliposis adenomatosa cólica, Síndrome de Poliposis Familiar, Poliposis Familiar del Colon, Poliposis Adenomatosa del Colon
Japanese 家族性ポリポーシス, カゾクセイポリポーシス, ダイチョウセンシュセイポリポーシス, 大腸腺腫性ポリポーシス, 大腸ポリポーシス, ダイチョウポリポーシス, 家族性腺腫性ポリポーシス, カゾクセイセンシュセイポリポーシス, 大腸ポリポーシス-腺腫様, 家族性結腸ポリポーシス, 家族性ポリポーシス症候群, 家族性大腸ポリポーシス, 家族性大腸腺腫症, 家族性結腸ポリポシス, 結腸ポリポーシス-家族性, 腺腫様大腸ポリポーシス, 大腸ポリポーシス-家族性, 大腸腺腫症-家族性, 結腸ポリポーシス-腺腫様
Swedish Adenomatös tjocktarmspolypos
Finnish Adenomatoottinen koolonin polypoosi
Russian POLIPOZ KOLI SEMEINYI, ADENOMATOZNYI POLIPOZ KOLI, POLIPOZNYI SINDROM SEMEINYI, АДЕНОМАТОЗНЫЙ ПОЛИПОЗ КОЛИ, ПОЛИПОЗ КОЛИ СЕМЕЙНЫЙ, ПОЛИПОЗНЫЙ СИНДРОМ СЕМЕЙНЫЙ
Czech Adenomatózní polypóza tlustého střeva, Familiární adenomatózní polypóza, Familiární polypóza, Polyposis coli, familiární adenomatózní polypóza, adenomatózní polypóza coli, familiární adenomatosní polypóza, syndrom familiární polypózy
Polish FAP, Polipowatość okrężnicy gruczolakowata, Zespół polipowatości rodzinnej
Hungarian Colon adenomatosus polyposis, Familiaris adenomatosus polyposis, Polyposis coli, Familiaris polyposis
Norwegian Tykktarmspolypose, adenomatøs, Familiær adenomatøs polypose, Adenomatøs tykktarmpolypose
Croatian ADENOMATOZNA POLIPOZA KOLONA

Ontology: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) (C2674616)

Definition (NCI) A rare genetic syndrome with an autosomal dominant pattern of inheritance. It was formerly called hereditary flat adenoma syndrome (HFAS) but is now recognized as an attenuated variant of familial adenomatous polyposis (FAP). It is most commonly associated with mutations in the APC gene specifically: exons 1-5, exon 9 and in the distal 3' terminus. Clinical presentation occurs in the middle decades and is characterized by the proximal development of multiple (but less than 100), non-polypoid colonic adenomas. Clinical progression to colorectal cancer may occur later in life but the risk is less than with classic FAP.
Concepts Disease or Syndrome (T047)
MSH C538265
English ADENOMATOUS POLYPOSIS COLI, ATTENUATED, AAPC, AFAP, FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder), Attenuated familial adenomatous polyposis, Familial Adenomatous Polyposis, Attenuated, Attenuated Adenomatous Polyposis Coli, HFAS, Attenuated Familial Adenomatous Polyposis, Hereditary Flat Adenoma Syndrome

Ontology: MUTYH-Associate Polyposis (C3272841)

Definition (NCI) An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.
Concepts Neoplastic Process (T191)
English MAP, MUTYH-Associate Polyposis, MUTYH-Associated Polyposis, MYH-Associated Polyposis