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Polyposis Syndrome

Lee Surgery and Endoscopy was founded by Dr. Lee Chin Li, with the mission to deliver accessible and quality healthcare to our patients. We are committed to ensuring your comfort from consultation to procedures.

What is polyposis syndrome?

Polyposis syndrome is a group of inherited conditions characterised by the development of numerous abnormal growths in the colon and other parts of the gastrointestinal (GI) tract. These polyps can progress to colorectal cancer over time.

Common types of polyposis syndrome include:

  • Familial adenomatous polyposis (FAP): FAP is caused by mutations in the adenomatous polyposis coli gene. Individuals with FAP often develop hundreds to thousands of adenomatous polyps in the colon and rectum, with most patients first beginning to develop these polyps in their teenage years. 
  • Attenuated familial adenomatous polyposis (AFAP): AFAP is similar to FAP, but it typically develops less than 100 polyps. Unlike FAP, AFAP tends to develop later in life and has a lower risk of progressing into colorectal cancer.
  • Juvenile polyposis syndrome (JPS): JPS is a genetic condition described as recurring polyps that are formed on the lining of the gastrointestinal tract. 

What causes polyposis syndrome?

Polyposis syndrome is primarily caused by genetic mutations, either inherited from one or both parents. These mutations disrupt normal cellular processes involved in the regulation of cell growth and division, leading to the formation of multiple polyps in the colon, rectum, or other parts of the digestive tract. Colorectal polyps increase the risk of developing colorectal cancer.

In rare cases, a patient may randomly develop polyposis syndrome, which is not inherited. However, such cases often occur because of a new mutation in the gene, which is associated with one of the polyposis syndromes.

What are the symptoms of polyposis syndrome?

The symptoms of polyposis syndrome vary depending on the specific type of syndrome and the number, size, and location of the polyps. However, some common symptoms and signs of polyposis syndrome may include:

polyposis syndrome symptoms
Changes in bowel habits are linked to various gastrointestinal problems, including polyposis syndrome.

Who is at risk of developing polyposis syndrome in Singapore?

Individuals with the following factors are at an increased risk of developing polyposis syndrome:

  • Genetics: inheriting specific genetic mutations associated with polyposis syndromes increases the risk of developing polyposis syndrome. Additionally, having a first-degree relative (parent, sibling, or child) with a history of polyposis syndrome or colorectal cancer increases the risk.

The quality of life for patients with polyposis syndrome depends on the type of syndrome, along with its severity, when it was first diagnosed, and how far along the treatment regime they are. However, the consensus is that early detection is always best, as it gives ample opportunity for an earlier intervention before it progresses to colorectal cancer.

How is polyposis syndrome diagnosed?

Diagnosing polyposis syndrome typically involves a combination of the following:

  • Medical history and physical examination: your specialist will review the individual's medical history, including any family history of polyposis syndromes or colorectal cancer, and perform a physical exam.
  • Colonoscopy and biopsy: during a colonoscopy, small tissue samples (biopsies) may be taken from the polyps or other abnormal areas for microscopic examination. Biopsy results can help confirm the presence of polyps and provide information about their characteristics.
  • Genetic testing: if the patient has a family history of polyposis syndrome or colorectal diseases, genetic testing may be ordered to identify any genetic mutations in the blood.
  • Imaging tests: imaging tests like computerised tomography (CT) scans and magnetic resonance imaging (MRI) may be conducted to determine and monitor the extent of the growth and to detect any signs of cancer spreading to nearby organs.

What are the treatment options for polyposis syndrome in Singapore?

If polyposis syndrome is confirmed in Singapore, the treatment plan includes surveillance, polyp removal, and preventive measures to reduce the risk of colorectal cancer. Treatment options for polyposis syndrome include:

  • Polypectomy: during a polypectomy, polyps are removed during a colonoscopy using a specialised instrument, which helps to reduce the risk of colorectal cancer.
  • Surgical intervention: if the polyps are larger and there is malignant change, laparoscopic colorectal surgery or open surgery may be performed to remove them.
  • Surveillance colonoscopies: regular colonoscopies will be scheduled to monitor the growth and development of the polyps.
  • Medication: medications may be prescribed to help reduce polyp formation or slow down polyp growth.
  • Genetic counselling and testing: genetic counselling and testing play a crucial role in the management of polyposis syndromes, especially for individuals with a family history of the condition.
polypectomy polyposis syndrome
A polypectomy is performed to remove colon polyps, reducing the risk of developing colorectal cancer.

Frequently asked questions

What is the life expectancy of someone with polyposis syndrome?

The life expectancy of someone with polyposis syndrome can vary significantly depending on several factors, including the specific type of syndrome, the effectiveness of treatment and surveillance, the presence of associated complications, and individual health factors. 

Is polyposis syndrome life-threatening?

Polyposis syndrome itself is not typically considered life-threatening; however, the complications associated with untreated or poorly managed polyposis syndromes can be serious and potentially life-threatening. The primary concern with polyposis syndromes is the increased risk of developing colorectal cancer due to the presence of multiple polyps in the colon and rectum.

Can polyposis syndrome go away on its own?

No, polyposis syndrome cannot go away with or without treatment; there is no cure for polyposis syndrome. However, their growth and development can be influenced by various factors, including treatment interventions such as polyp removal (polypectomy), medication, and lifestyle modifications.

Any other questions?

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