familial adenomatous polyposis

(redirected from Intestinal polyposis)

polyposis

 [pol″ĭ-po´sis]
the formation of numerous polyps.
familial polyposis (familial adenomatous polyposis (FAP)) a hereditary condition marked by multiple adenomatous polyps with high malignant potential, lining the intestinal mucosa, especially that of the colon. Polyps are first seen around puberty, and by age 35 years 95 per cent of patients have polyps. Without colectomy, colon cancer is inevitable. Extracolonic manifestations may also be present. It occurs as part of several different conditions, including gardner's, peutz-jeghers, canada-cronkhite, and turcot's syndromes.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

familial adenomatous polyposis (FAP),

[MIM*175100]
polyposis that usually begins in childhood; polyps increase in number, causing symptoms of chronic colitis; pigmented retinal lesions are frequently found; carcinoma of the colon almost invariably develops in untreated cases; autosomal dominant inheritance, caused by mutation in the adenomatous polyposis coli gene (APC) on 5q. In Gardner syndrome, which is allelic to FAP, there are extracolonic changes (desmoid tumors, osteomas, jaw cysts).
Farlex Partner Medical Dictionary © Farlex 2012

familial adenomatous polyposis

Familial polyposis An AD condition affecting ±50,000–US, characterized by progressive development of hundreds of adenomatous colorectal polyps; progression to cancer Molecular pathology APC gene on chromosome 5q21 is mutated in FAP, which may also be mutated in sporadic colorectal tumors Diagnosis Allele-specific expression assay, in vitro synthesized protein assay  Treatment Sulindac
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

fa·mi·li·al ad·e·nom·a·tous pol·y·po·sis

(FAP) (fă-mil'ē-ăl ad'ĕ-nō'mă-tŭs pol'i-pō'sis)
Polyposis of the colon that usually begins in childhood; polyps increase in number, causing symptoms of chronic colitis; pigmented retinal lesions are frequently found; carcinoma of the colon almost invariably develops in untreated cases; autosomal dominant inheritance, caused by mutation in the adenomatous polyposis coli gene (APC) on 5q. In Gardner syndrome, which is allelic to FAP, there are extracolonic changes (desmoid tumors, osteomas, jaw cysts).
Synonym(s): adenomatous polyposis coli, familial polyposis coli.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

familial adenomatous polyposis

An autosomal dominant genetic disorder featuring multiple ADENOMAS of the colon and rectum, desmoids, osteomas and sebaceous cysts. The condition is causes by a mutation on the adenomatous polyposis coli (APC) gene on the long arm of chromosome 5 and carries a strong risk of malignancy. About 12 per cent of people with the gene develop a cancer of the upper intestinal tract, usually a cancer at the point where the bile and pancreatic ducts enter the small intestine (the ampulla of Vater). The APC gene is large with about 100,000 base pairs but of which only about one tenth are exons. It is a tumour suppressor gene, and the mutation allows tumours to arise. In people with familial adenomatous popyposis the normal allele of the pair is deleted.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
References in periodicals archive ?
Small intestinal ulcers (3 patients, 3.6%) (Figure 3(d)), intestinal polyposis (3 patients, 3.6%) (Figure 3(e)), vascular malformation (2 patients, 2.4%) (Figure 3(f)), intussusception (1 patient, 1.2%), active bleeding in the jejunum (1 patient, 1.2%), and non-Hodgkin's lymphoma confirmed by biopsy (Figures 3(g) and 3(h)) were also found on MGCE.
Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: a syndrome of diagnostic significance.
As a differential diagnosis, intestinal polyposis syndromes represent different types of FAP, including hereditary-mixed polyposis syndrome, Hamartomatous polyposis syndromes, and other variants such as Turcot syndrome.
Multiple epidermal cysts may be associated with Gardner syndrome, which is an autosomal dominant disease characterized by cutaneous lesions, osteomas, and intestinal polyposis. Moreover, Won et al.
However, it is rarely encountered as a separate pathologic entity (11) and reports of isolated findings of neurofibromatous proliferations in patients with no additional clinical evidence of neurocutaneous, intestinal polyposis or multiple endocrine neoplasia syndromes have been rarely documented.
Intestinal Polyposis Associated With Melanosis Oris.
In the group 4--high malignization risk, which includes patients with total diffuse polyposis of colon, intestinal polyposis of gastrointestinal tract (Peutz-Jeghers, Trucot, Gardner syndromes), malignant polyps or transformation from cancer in situ into adenocarcinoma--there are used 3 variants of surgical tactics.
The children, who had an average age of 14 years, were suspected of having occult Crohn's disease, intestinal polyposis, or occult or obscure gastrointestinal bleeding, said Dr.
This autosomal dominant condition, associated with multiple large epidermal cysts, is commonly seen in patients with intestinal polyposis. Those affected should see a gastroenterologist; degeneration of polyps into cancer is inevitable, and therapeutic removal of colonic segments may be necessary.
Lip pigmentation: Peutz-Jeghers syndrome is a form of hereditary intestinal polyposis that may lead to colon cancer and is characterized by mucocutaneous (freckle-like) pigmentation of the lips and inner cheeks.