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Symptoms, diagnosis and causes of familial polyposis coli

Symptoms, diagnosis and causes of familial polyposis coli

Symptoms, diagnosis and causes of familial polyposis coli

Symptoms, diagnosis and causes of familial polyposis coli

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Familial polyposis coli also called ‘familial adenomatous polyposis’ is an inherited disorder affecting the large intestine (colon). It is characterised by development of several small benign growths called polyps or adenomas. This disorder requires continuous monitoring of the affected individual since it usually evolves into a malignant condition of the colon during adult life.

The colon is primarily responsible for absorbing excess water from the nearly digested food which has been passed along from small intestine and converting them into faeces which get stored in rectum before being passed into anal canal during bowel movement.

Incidence, age and sex

Familial polyposis coli is an infrequent disorder occurring in 1 in about 10,000 individuals. It has the same prevalence in both men and women.

Signs and symptoms

Familial polyposis coli is present since birth but the clinical features are usually absent or minimal during the early stages of the disorder. However, the symptoms start appearing as number of polyps increase as the child grows up. About hundreds to thousands of polyps are developed in the colon by early adulthood. The common clinical features include abdominal pain which may be vague or cramping in quality accompanied with diarrhoea. Sometimes blood stained stools may also be complained of, by affected individuals. Familial polyposis coli may also affect other organs in occasional individuals. For example, some individuals may develop malignancy in the thyroid gland, brain or bones.

This disorder can be diagnosed by colonoscopy or sigmoidoscopy which helps in direct visualization of the inside of the large bowel. Furthermore, genetic analysis may help in establishing the diagnosis.

Causes and prevention

Familial polyposis coli is a genetic disorder characterised by abnormal growth (polyps) in lining of wall of the large bowel which may later develop into cancerous growths. It is an autosomal dominant inheritance wherein only one copy of gene is enough to inherit the disorder. The APC gene (Adenomatous Polyposis Coli) which is placed on chromosome number 5 is responsible for the inheritance of this disorder.

Complications

The most common and inevitable complication of familial polyposis coli is malignant change of polyps in the colon which usually occurs in young adulthood.

Submit a request for further information, a quotation or indicative cost. Your enquiry will be forwarded to up to 3 private healthcare providers. They will respond directly with further information.

Get a quote for familial polyposis coli treatment >

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