Familial Adenomatous Polyposis (FAP) Diagnosis by Genetic Testing | MedGenome | MedGenome - Leading Genetics Diagnostics Lab in India - Part 18001033691

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Six members of a family diagnosed with Familial Adenomatous Polyposis (FAP), an inherited disorder in Gujarat

52-year-old Paresh went to a nearby hospital complaining of weight loss and changes in bowel movement. Colonoscopy testing confirmed the presence of multiple polyps in his colon, which is generally seen in a clinical condition known as Familial Adenomatous Polyposis (FAP).

In a strange turn of events six members of a family have been diagnosed with Familial Adenomatous Polyposis (FAP) in Gujarat. It came to light when a 52 year old man went to Kailash cancer hospital and research centre (KCHRC), Goraj, Gujarat complaining of weight loss and changes in bowel movement. Colonoscopy testing confirmed the presence of multiple polyps (a small protruding growth) in his colon. These types of polyps are generally seen in a clinical condition known as Familial Adenomatous Polyposis (FAP). 

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. It is an adult-onset disease which is caused by a genetic mutation where in the body cells aren’t able to supress the development of tumour. Typically 100-1000 polyps appear in the colon and rectum at an early age, which if left untreated, leads to aggressive colorectal cancer by the age of 40 years. There are currently no curative treatments for FAP and surgical removal of the polyps remains the mainstay.

On further investigation, it was found that a total of six family members (ages 35-60) had polyps and were diagnosed with FAP. All affected individuals were operated to remove multiple polyps in the colon and rectum. Surgical biopsy results showed that the polyps were pre-cancerous. Since this appeared to be a case of familial cancer predisposition, all twenty six family members were tested for genetic mutations which are known to underlie this type of cancer. Gene testing from the blood of these individuals revealed a mutation in the Adenomatous polyposis coli (APC) gene, not only in all six FAP-diagnosed family members, but also in four young individuals (ages 6-23 years) who have not yet been diagnosed with FAP. Of the ten members four are young individuals who have a strong predisposition of getting polyps later in life, meaning they have more chances of having FAP disease. Hence they were counselled and encouraged to undergo regular colonoscopies.

Familial colorectal cancers are generally rarely encountered and can have different genetic mutations associated with them. In the age of modern medicine, knowing the type of mutation associated with a particular cancer is becoming a very important factor in deciding the treatment. In this case of the FAP family, knowing that 4 family members have the APC gene mutation and will very likely develop polyps as they age, could eventually be a life saver through early diagnosis

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