Find information on thousands of medical conditions and prescription drugs.

Familial polyposis

Familial adenomatous polyposis (FAP) is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps are benign, they may become malignant, predisposing patients to colorectal cancer. more...

Home
Diseases
A
B
C
D
E
F
Fabry's disease
Facioscapulohumeral...
Factor V Leiden mutation
Factor VIII deficiency
Fallot tetralogy
Familial adenomatous...
Familial Mediterranean fever
Familial periodic paralysis
Familial polyposis
Fanconi syndrome
Fanconi's anemia
Farber's disease
Fascioliasis
Fatal familial insomnia
Fatty liver
Febrile seizure
Fibrodysplasia ossificans...
Fibromatosis
Fibrosarcoma
Fibrosis
Fibrous dysplasia
Filariasis
Fissured tongue
Fitz-Hugh-Curtis syndrome
Flesh eating bacteria
Fluorosis
Focal dystonia
Foix-Alajouanine syndrome
Follicular lymphoma
Fountain syndrome
Fragile X syndrome
Fraser syndrome
FRAXA syndrome
Friedreich's ataxia
Frontotemporal dementia
Fructose intolerance
Fructose-1,6-bisphosphatase...
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

Signs and symptoms

From the age of 16 onward, patients develop hundreds to thousands of polyps. These may bleed, leading to admixture of blood in the stool. If the blood is not visible, it is still possible for the patient to develop anemia due to gradually developing iron deficiency. If malignancy develops, this may present with weight loss, altered bowel habit, or even with metastasis in the liver or elsewhere.

The genetic determinant in familial polyposis may also predispose carriers to other malignancies, e.g. of the duodenum and stomach. Other signs that may point at FAP are pigmented lesions of the retina ("congenital hypertrophy of the retinal pigment"), jaw cysts, sebaceous cysts, and osteomata (benign bone tumors). The combination of polyposis, osteomas, fibromas and sebaceous cysts is termed Gardner syndrome (with or without abnormal scarring).

Diagnosis and treatment

In patients with a strong family of colorectal cancer and symptoms suggestive of polyposis, colonoscopy is indicated, with biopsy of a number of polyps (especially of those that appear dysplastic). In severe cases, a full or partial colectomy is required.

Blood tests (liver enzymes) and ultrasound of the abdomen are often performed to rule out metastasis to the liver.

Genetic testing provides the ultimate diagnosis in 95%; genetic counseling is usually needed in families where FAP has been diagnosed. Testing may also aid in the diagnosis of borderline cases in families that are otherwise known to have the FAP mutation.

Pathophysiology

FAP is due to mutations in the APC gene, which is located on the fifth chromosome (5q21-q22), or in the MUTYH gene located on chromosome 1 (p34.3-p32.1).

APC is a tumour suppressor gene, acting as a "gatekeeper" to prevent development of tumours. Mutation of APC also occurs commonly in incident cases of colorectal carcinoma, emphasizing its importance in this form of cancer.

Although the polyps are inherently benign, the first step of the two-hit hypothesis has already taken place: the inherited APC mutation. Often, the remaining "normal" allele is mutated or deleted, accelerating generation of polyps. Further mutations (e.g. in p53 or KRAS) to APC-mutated cells are much more likely to lead to cancer than they would in non-mutated epithelial cells.

The normal function of the APC gene product is still being investigated; it is present both the cell nucleus and the membrane. The canonical tumor-suppressor function of Apc is suppression of the oncogenic protein beta-catenin. However, other tumor-suppressor functions of Apc may be related to cell adherence and cytoskeleton organization.

Read more at Wikipedia.org


[List your site here Free!]


Managing colon ca's other genetic risk factors; surveillance key when mutations detected.(Clinical Rounds) : An article from: Family Practice News $5.95 Treatment is key to preventing ca in FAP patients.(Genetic Testing Indicated)(familial adenomatous polyposis) : An article from: Internal Medicine News $5.95
Letters.(Letter to the Editor) : An article from: Ostomy Quarterly $5.95 Familial Adenomatous Polyposis $60.00
Celebrex[TM] Receives FDA Approval As Adjunctive Treatment for Familial Adenomatous Polyposis (FAP). : An article from: Ostomy Quarterly $5.95 Familial Polyposis Coli $50.00
Familial adenomatous polyposis: the other GI disease. : An article from: Ostomy Quarterly $5.95 Daily COX-2 Inhibitor Reduces Colorectal Polyp Number, Size.(cyclooxygenase-2) : An article from: Family Practice News $5.95
Managing genetic screening and risk in hereditary colon cancers.(Genetic Tests Available) : An article from: Internal Medicine News $5.95 A patient's guide to ileoanal reservoir surgery. : An article from: Ostomy Quarterly $5.95

Familial polyposis
Familial polyposis is an inherited condition which primarily affects the large intestine (colon and rectum). Large numbers of projecting masses of swollen ...
Sulindac in Managing Familial Adenomatous Polyposis - Brief Article
Familial adenomatous polyposis (FAP) is inherited by transmission of a mutation of the APC gene on chromosome 5. The most common manifestations of FAP ...
Celecoxib Approved for Familial Adenomatous Polyposis - Brief Article - Statistical Data Included
BETHESDA, MD. -- The arthritis drug celecoxib has been approved as an adjunct to the standard treatment of familial adenomatous polyposis, an approval ...
Hypoxemic respiratory failure and cor pulmonale in a 49-year-old man with familial polyposis coli
(Chest 1994; 106:275-77) A 49-year-old man was admitted with 3 weeks of progressively severe dyspnea. The patient had familial polyposis coli for which he underwent total colectomy with ileorecta
APC stool test: Early detection of colorectal cancer? - New Tests - adenomatous polyposis coli, Johns Hopkins School of Medicine - Brief Article
Analyzing fecal DNA for mutations of adenomatous polyposis coli (APC) gene can identify early cases of colorectal cancer, according to a report in the ...
Acute effects of antileukotrienes on sinonasal polyposis and sinusitis - Brief Article - Statistical Data Included
Abstract Recently, leukotrienes have been implicated in the mediation of bronchoconstriction and inflammatory changes in asthma. Leukotriene levels ...
Genetic markers improve colorectal screen - test to predict development of adenomatous polyposis, a condition that often precedes colorectal cancer
Genetic markers improve colorectal screen A rare genetic defect causes tiny polyps -- sometimes hundreds of them -- to grow in the large intestine. Without surgery to remove the polyp-ridden secti
Mutation primes colon cells for cancer - adenomatous polyposis coli gene research - Brief Article
Cancer researchers have found additional evidence that a mutation in a recently discovered gene is the first misstep in the series of genetic stumbles ...

Home Contact Resources Exchange Links ebay