Gastrointestinal Polyposis - Causes, Symptoms, Diagnosis, and Treatment

Creator: Dr. Devanga Manjushree Selvaraj
Published: 2023-04-26T17:27:20

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Gastrointestinal polyposis is a rare condition that predisposes as a factor for many gastrointestinal conditions. Read the article below to know more.

Written by

Dr. Devanga Manjushree Selvaraj

Medically reviewed by

Dr. Kaushal Bhavsar

April 26, 2023

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Contents

What Is Gastrointestinal Polyposis?
What Are the Causes of Gastrointestinal Polyposis?
What Are the Risk Factors for Gastrointestinal Polyposis?
What Are the Symptoms of Gastrointestinal Polyposis?
How Is the Diagnosis Done for Gastrointestinal Polyposis?
What Is the Treatment for Gastrointestinal Polyposis?
What Is the Differential Diagnosis of Gastrointestinal Polyposis?

What Is Gastrointestinal Polyposis?

Gastrointestinal polyposis syndrome is a collective entity that includes the number and histological types of colorectal polyps and also polyposis of the upper gastrointestinal tract. It is a group of polyps that occurs in the colon, stomach, intestine, and lining of the gastrointestinal tract that has the potential to turn cancerous. It occurs as a result of the balance between cellular growth promotion and cellular growth inhibition. These defects result as the growth-promoting protein loses its function as a growth-inhibiting protein mainly due to inactivation by the tumor suppressor gene.

What Are the Causes of Gastrointestinal Polyposis?

Gastrointestinal polyps occur due to the defect in the balance between cellular growth inhibition and cellular growth promotion. These can occur by an activated oncogene that has upregulated growth-promoting protein and loss of function of the growth-inhibiting protein. Gastrointestinal polyposis can be classified into hamartomatous polyposis syndrome and adenomatous polyposis syndrome.

Other causes of gastrointestinal polyps form in response to damage to the stomach lining. The most common causes are:

Chronic stomach inflammation.
Familial adenomatous polyposis.
Regular use of certain stomach medications.

What Are the Risk Factors for Gastrointestinal Polyposis?

Risk factors that increase the chances of developing gastrointestinal polyposis are:

Age: Gastrointestinal polyposis is familiar in mid-adulthood and late adulthood.
Familial Adenomatous Polyposis: If the condition is inherited, it increases the risk of gastrointestinal polyposis.
Bacterial Stomach Infection: H.pylori bacteria increases the risk of gastritis and increases the risk of adenomas, and hyperplastic polyps.
Certain medications: Long-term use of drugs like proton pump inhibitors and other medications used to treat gastroesophageal reflux disease.

What Are the Symptoms of Gastrointestinal Polyposis?

Some people who are diagnosed with gastrointestinal polyposis do not experience any symptoms until the polyps size increases and multiplies. Symptoms caused are:

Blood in stool.
Chronic weight loss.
Constipation.
Bleeding from rectum.
Feeling weak or tired.
Anemia.
Diarrhea.
Abdominal pain and cramping.

Symptoms that are present at birth nearly diagnosed with symptoms present at birth are:

Extra toes and fingers.
Cleft palate.
Telangiectasia of the skin.
Twisted intestines.
Abnormal growth in the heart, genitalia, brain, and urinary tract.

How Is the Diagnosis Done for Gastrointestinal Polyposis?

Diagnosis of gastrointestinal polyposis is done by the following:

1. Laboratory investigations like:

CBC Count: A complete blood count test is done to check on abnormal values in the blood.
Prothrombin Test: This test is done to evaluate blood for blood clotting. Prothrombin is a protein produced in the liver and helps in appropriate clotting.
Serum Albumin Levels: This test helps to determine the abnormalities of kidney and liver-related diseases. This can detect the albumin levels in the blood and if the body is not absorbing enough protein.
Genetic Testing: This test is done to identify any changes or abnormalities in chromosomes, genes, and proteins.
Thyroid Hormone Test: The thyroid hormone test helps in the detection of abnormalities associated with the thyroid gland.
Liver Function Test: This is a blood test that helps in measuring different proteins and enzymes that are made by the liver and their values to determine the functionality of the liver.

2. Imaging tests like:

CT Scan: Computed tomography scan is an imaging technique that uses a combination of computer technology and x-rays to create body images.
MRI Scan: Magnetic resonance imaging technique is used to get detailed images of inside the body that uses radio waves and a strong magnetic field to create images.
Endoscopy: A test procedure used to examine the interior of the hollow gastrointestinal tract by using an instrument, an endoscope.
Colonoscopy: A test procedure that uses a colonoscope, a flexible tube with a light-headed camera attached to it, inserted into the rectum to check for abnormalities associated with the colon.

3. Tissue Biopsy: A test is done to examine and detect the presence and extent of the disease, by removing or extracting whole or part of the tissue by fine needle technique and then examined under a microscope in a laboratory.

What Is the Treatment for Gastrointestinal Polyposis?

Treatment of gastrointestinal polyps depends on the polyps. For an H. pylori infection, the healthcare provider would recommend a combination of medications like antibiotics. Treating this condition can disappear hyperplastic polyps and prevent them from reoccurring.

Large Stomach Polyps: Most of these polyps are removed during an endoscopy.
Small Polyps That Are Not Adenomas: These polyps usually cause no signs and symptoms and are rarely cancerous. They require no treatment as such. Periodic monitoring can be done once they reveal any symptoms, and then they can be removed.
Polyps Associated With Familial Adenomatous Polyposis: They are preferably removed as they are potentially malignant in nature.
Adenomas: These polyps are also removed during an endoscope, and they have the ability to turn cancerous.

What Is the Differential Diagnosis of Gastrointestinal Polyposis?

The differential diagnosis of gastrointestinal polyposis are:

Inflammatory Fibroid Polyp: A rare condition that affects the submucosa of the gastrointestinal tract.
Menetrier Disease: A rare disorder that leads to massive overgrowth of mucous cells of the stomach lining, resulting in gastric folds.
Cowden Disease: A rare inherited condition that results in the growth of hamartomas and increases the risk of cancer.
Juvenile Polyposis: A genetic condition that results in the recurring growth of polyps.
Peutz-Jeghers Syndrome: A condition in which an increase in growth of hamartomas occurs that are non-cancerous in the gastrointestinal tract.
Adenomatous Polyp: A condition characterized by a small polyp lump in the lining of the rectum and colon.
Chronic Gastritis: A condition where the stomach lining is inflamed.
Cronkhite- Canada Syndrome: A noninherited condition that has high morbidity associated with alopecia, diarrhea, hyperpigmentation, onychodystrophy, and hamartomatous polyposis.
Focal Foveolar Hyperplasia: A condition in which mucous cells of the stomach overgrow.

Conclusion

Colorectal cancer is one of the most important reasons for cancer-related death; gastrointestinal polyposis is the main predisposing factor for this condition. The small polyps which are asymptomatic need to be under observation as they can turn cancerous at any time, and removal of such polyps would be the only solution. In most cases, gastrointestinal polyposis is an inherited condition from the parents, so having a clear idea of family medical history would help to avoid the risk of getting the condition and help to deal with it soon.

Frequently Asked Questions

1. What Is the Most Prevalent Form of Intestinal Polyposis Syndrome?

The most prevalent form of intestinal polyposis syndrome is familial adenomatous polyposis (FAP). FAP is a hereditary disorder characterized by the development of numerous polyps in the colon and rectum. These polyps, if left untreated, can transform into cancer over time. Mutations in the APC gene cause FAP, and it significantly increases the risk of colorectal cancer, often necessitating preventive measures like prophylactic surgery to mitigate the risk of malignancy.

2. What Are the Potential Complications of Polyposis in the Intestines?

Potential complications of polyposis in the intestines are notably severe and primarily revolve around the heightened risk of developing colorectal cancer. These polyps can potentially progress into malignancies if not detected and removed early. Larger polyps can cause gastrointestinal bleeding, leading to anemia and other related complications. Regular surveillance and timely intervention through colonoscopy and polyp removal are crucial strategies to mitigate these risks and manage complications effectively.

3. Is Intestinal Polyposis Typically Inherited?

Yes, intestinal polyposis is typically an inherited condition. Individuals with a family history of polyposis syndromes, such as familial adenomatous polyposis (FAP) or Lynch syndrome, are more likely to develop intestinal polyposis due to genetic mutations passed down through generations. The hereditary nature of this condition underscores the importance of genetic testing and early screening for at-risk individuals to enable early detection and appropriate management. Understanding the genetic basis helps assess the risk and implement necessary preventive measures for affected families.

4. Which Organ Does Polyposis Primarily Affect?

Polyposis primarily affects the intestines, specifically the colon and rectum. In individuals with polyposis syndromes, abnormal growths known as polyps develop within the lining of the intestines. These polyps can vary in size and shape and potentially become cancerous over time, emphasizing the significance of regular monitoring and intervention to reduce the risk of malignancy. The location of these polyps in the intestines underscores the need for careful examination and targeted management of the affected areas.

5. In Which Regions of the Body Is Intestinal Polyposis Commonly Observed?

Intestinal polyposis is commonly observed in the colon and rectum, part of the large intestine. These regions are particularly prone to the development of polyps in individuals with polyposis syndromes. The colon, a major site of water absorption and feces formation, is a frequent location for these abnormal growths. Rectal involvement is also common, and the distribution of polyps across these regions necessitates thorough examination during screening and surveillance to ensure early detection and appropriate medical intervention.

6. At What Age Does Polyposis Syndrome Typically Manifest?

Polyposis syndrome typically manifests relatively young, often during adolescence or early adulthood. The exact age of onset can vary based on the specific type of polyposis syndrome and the genetic factors at play. For instance, familial Adenomatous Polyposis (FAP) usually starts to show signs in the teenage years. Due to the hereditary nature of these conditions, individuals with a family history need to undergo regular screenings and genetic testing to detect and manage the syndrome at an early stage. Early intervention is key to reducing the risk of complications such as colorectal cancer

7. How Does Polyposis Differ from Individual Polyps?

Polyposis differs from individual polyps in terms of scale and number. While a polyp is a single abnormal growth in the lining of the intestines, polyposis involves the development of multiple polyps, often dozens to hundreds. These polyps can cover a significant area of the intestinal lining, presenting a higher risk of malignancy. Polyposis is a broader and more pervasive condition, necessitating a strategic approach to monitoring, treatment, and prevention compared to managing isolated or sporadic polyps.

8. Which Specific Genes Are Linked to Polyposis?

Various genes are associated with polyposis, with specific mutations contributing to different types of the condition. For instance, Familial adenomatous polyposis (FAP) is primarily linked to mutations in the APC (Adenomatous polyposis coli) gene, while MUTYH gene mutations are associated with MUTYH-associated polyposis (MAP). Additionally, Lynch syndrome, another form of polyposis, is linked to mutations in DNA mismatch repair genes such as MLH1, MSH2, MSH6, and PMS2. Understanding the genetic basis is crucial for precise diagnosis, risk assessment, and appropriate management of polyposis syndromes.

9. How Frequently Does Polyposis Occur in the Population?

Polyposis occurrences can vary in frequency within the population based on the specific type of polyposis syndrome. For example, familial Adenomatous Polyposis (FAP) is relatively rare, affecting about 1 in 8,000 to 1 in 22,000 individuals. However, other forms of polyposis, such as Peutz-Jeghers syndrome, may be even less common. The rarity of these conditions emphasizes the importance of early detection, genetic testing, and targeted screening for at-risk individuals and their families to manage the condition effectively.

10. What Is the Average Life Expectancy of Individuals Affected by Polyposis?

The average life expectancy of individuals affected by polyposis can vary significantly based on several factors, including the specific type of polyposis, the extent of polyp development, timely intervention, and access to appropriate medical care. Individuals with polyposis can have a near-normal life expectancy with vigilant surveillance, early detection, and proper management, especially through prophylactic surgery to remove the colon. Regular screenings and adherence to medical recommendations are critical in improving outcomes and ensuring a longer, healthier life for those with polyposis.

11. What Causes the Formation of Polyps in the Intestines?

Polyps form in the intestines due to abnormal cell growth in the lining of the colon or rectum. The exact cause is unclear, but certain factors can contribute, including genetic mutations, chronic inflammation, dietary factors, and lifestyle choices. Genetic mutations play a significant role, especially in hereditary forms of polyposis, leading to the uncontrolled growth of cells and the formation of polyps. Regular screenings and a healthy lifestyle can help early detect and manage these growths.

12. Can Polyps Within the Intestines Develop Into Cancer?

Yes, polyps in the intestines can potentially become cancerous. While not all polyps will transform into cancer, certain types, particularly adenomatous polyps, have a higher risk of progressing to colorectal cancer over time. Monitoring and removing polyps during routine screenings (like colonoscopies) is essential to prevent this progression. Early detection and intervention significantly reduce the likelihood of polyps developing into cancer, underlining the importance of regular screenings for at-risk individuals.

13. How Prevalent Is Polyposis Within the General Population?

Polyposis is a relatively rare condition, but its exact prevalence can vary based on the specific type of polyposis syndrome. Familial adenomatous polyposis (FAP), one of the more common forms, occurs in approximately one in 8,000 to one in 22,000 individuals. Other forms, such as Peutz-Jeghers syndrome, are even less common. Despite its rarity, polyposis has a significant impact due to the increased risk of colorectal cancer associated with certain polyps. Early detection and management are crucial in mitigating the potential risks of polyposis.

14. How Is Polyposis Defined in Medical Terminology?

In medical terms, polyposis refers to a condition characterized by multiple abnormal growths, known as polyps, within the lining of the intestines, typically the colon and rectum. These growths can vary in size and shape and may be benign or, in some cases, have the potential to become cancerous. The term polyposis underscores these growths' diversity and clustered nature, necessitating careful monitoring and appropriate medical intervention to prevent complications and manage the condition effectively.

15. Can Polyps Within the Intestines Lead to Instances of Bleeding?

Yes, polyps within the intestines can cause bleeding, which may manifest as blood in the stool or rectal bleeding. The bleeding can range from minor and occult (hidden) to overt and visible. Larger or more advanced polyps are more likely to cause bleeding due to their increased size and potential to irritate or erode the surrounding tissues. Detecting bleeding is a crucial sign that prompts further investigation, often through colonoscopy, to identify and address the presence of polyps and assess their potential for malignancy.

Sources

Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)

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