Familial Adenomatous Polyposis

Familial adenomatous polyposis - Medical Definition and Pronunciation
Familial adenomatous polyposis - Medical Definition and Pronunciation administrator 4 Views • 2 years ago

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Title: Familial adenomatous polyposis

Familial adenomatous polyposis: A genetic disease characterized by the presence of numerous precancerous polyps in the colon and rectum. The polyps usually begin to form at puberty, and colon cancer almost always develops later in life. Abbreviated FAP. FAP is inherited as an autosomal dominant trait. Most people who receive the gene manifest the disease, although the expression of FAP can vary markedly from person to person. The gene that is mutated in FAP is the APC (adenomatous polyposis coli) gene on chromosome 5. Surgery is often necessary to remove the colon in order to prevent the development of cancer. A milder type of familial adenomatous polyposis has been identified that is inherited in an autosomal recessive manner. This is referred to as autosomal recessive familial adenomatous polyposis and is caused by mutations in a different gene known as MUTYH. Also known as familial polyposis, familial polyposis coli.

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Attenuated Familial Adenomatous Polyposis - Medical Condition
Attenuated Familial Adenomatous Polyposis - Medical Condition administrator 1 Views • 2 years ago

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Symptoms, risk factors and treatments of Attenuated familial adenomatous polyposis (Medical Condition)

Attenuated familial adenomatous polyposis is a form of familial adenomatous polyposis, a cancer syndrome

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06 Colon Polyps and Colon Cancers
06 Colon Polyps and Colon Cancers administrator 2 Views • 2 years ago

The video takes a comprehensive look at colon polyps pathophysiology in preparation for the USMLE Step 1.

There are many types of colon polyps. Adenomatous in which there are two types. Villous (Villian) has a worse prognosis. Size the larger it is the more likely it is to be cancer and then there is dysplasia.

Symptoms: Rectal bleeding, obstruction, secretory diarhea and all of these have varying pathophysiology.

Juvenile Polyps: Malformation of the mucosa and usually happens in children who are less than 5 years old. Protrudes from the rectum and there is a syndrome called Juvenile Polyposis Syndrome. Pathophysiology: multiple juvenile polyps. THis is also associated with pulmonary Arteriovenous fistula

Hypoplastic Polyps - very common in the elderly 70-80. Dyspasia and these are generally benign as well.

Familial syndrome and their pathogenesis taht are associated with formation of colon polyps.

Puetz Jeghers are Autosomal Dominant. Multiple hamarotomatous polyps and you get a mucocutanoues pigmentation on the face. Complications: Intusseception (fatal) as well as some malignancies, such as breast, ovarian and other cancers.
Pathogenesis: it is linked iwth LKD1 and STK11 gene which causes it to decrease.

Familial Adenomatous Polyposis (FAP) found on chromosome 5p. THey have multiple polyps throughout the colon. THere are some variants:
Gardner - it is also associated osteomas, retinal hypertrophy, and also there is teeth in the mouth
Turcot - associated with CNS tumors, medulloblastoma, pheoblastoma.

Hereditary NonPolyposis Colon (HNPCC). Also autosomal dominant. Pathogenesis is problem in mismatch repair gene. Associated with MSH2 and MLH1. Increase Short Tandem Randoms.

Colon Cancer Pathogenesis
FAP model and HNPCC mdoel
FAP - mutation in APC then there is two hit. APC generally inhibit B-Catenin which is responsible for activated cyclin D1. Activates mutation of KRas and final hit of p-53

HNPCC model there is mismatch repair which leads to accumulation of gene factor

Risk factors is diet, low Vitamin A, C, K. Tobacco, Smoking, Inflammatory Bowel Disease, Puetz Jeghers, FAP, Villous adenoma for developing colon Cancer

Clinical Findings and Symptoms:
Iron Deficiency Anemia especially in ascending colon, which will be some sort of exophytic mass.
Colicky pain and hematochezia if found in descending colon. Mass will be more infiltrative inwards, not outwards.

Diagnosis
Iron Deficiency in elderly, you must rule out Colon cancer
Apple Core lesion on X-ray
CEA as tumor marking

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