What Is Juvenile Polyposis Syndrome?
Juvenile polyposis is an inherited condition that occurs due to non-cancerous polyps in the gastrointestinal tract and is most commonly seen in the colon. They can also occur in the small intestine, rectum, and stomach. In addition to the condition, there is an increased risk of developing specific types of cancer that include:
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Upper gastrointestinal tract cancer.
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Colorectal cancer.
As the syndrome is inherited, the risk of developing features associated with JPS can be passed from generation to generation in the family.
What Causes Juvenile Polyposis Syndrome?
The cause of juvenile polyposis is specific alterations in specific areas within the genetic
information. A large amount of genetic information is organized into smaller segments known as genes. These genes provide necessary instructions to the cells that perform different functions within bodies. In 60 % of patients, JPS develops as mutations in one or two different genes, SMAD4 and BMPR1A, located on chromosome 10 at the position and SMAD4 in the 18 positions on the chromosome. This gene produces a protein called a cell surface receptor. The protein encoded by the SMAD4 gene acts as a tumor suppressor and helps the cells to grow and divide quickly. They can also promote cell death. The egg and sperm cells of the body have two working copies of both SMAD4 and BMPR1A. Children with one working copy of either SMAD4 or BMPR1 A are born and develop normally but are at increased risk of developing cancerous and non-cancerous growth. These can lead to abnormal growth of affected cells and a chance to form tumors or cancers.
How Is Juvenile Polyposis Inherited?
An individual who carries an altered copy of the BMPR1A gene or a copy of the SMAD4 gene has a 50 % chance of passing inheritance to his or her children. Children who inherit the gene copy will have juvenile polyposis and are at high risk of developing other features associated with the condition.
Around 75 % of individuals with juvenile polyposis syndrome inherit an altered copy of SMAD4 or BMPR1A from the affected parent. The remaining 25 % of the individual has no family history of JPS. Though the individuals will be the first ones in the family to carry genetic change, future offspring will have 50 % of inheriting the genetic mutation.
What Are the Symptoms of Juvenile Polyposis?
The symptoms of juvenile polyposis syndrome are mainly determined by polyps in the gastrointestinal tract. Polyps are clusters of tissues and cells. They stick out and are round on the wall of the bowel and appear red to purple. Polyps occur in the gastrointestinal tract, mainly in the small intestine, rectum, stomach, and colon. In rare cases, polyps are seen coming out of the rectum.
The symptoms caused by polyps are:
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Chronic weight loss.
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Blood in the stool.
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Diarrhea.
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Cramping and abdominal pain.
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Constipation.
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Bleeding from the rectum.
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Feeling weak or tired.
Symptoms that are present at birth are:
Nearly 15 % diagnosed with JPS reveal signs at birth; they include-
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Extra fingers and toes (polydactyly).
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Twisted intestines.
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Abnormalities of the brain, genitalia, heart, or urinary tract.
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Cleft palate.
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Telangiectasia of the skin.
Juvenile polyposis syndrome is a benign condition, and those who have it are at a high risk of getting cancer. Cancers like pancreatic cancer, stomach cancer, small intestine cancer, and colorectal cancer occur.
Should Every Child Be Screened for Juvenile Polyposis Syndrome?
Children should be tested for juvenile polyposis syndrome if there is any family history of juvenile polyposis or colon cancer at a young age or if the child reveals any of the symptoms. Initial test of juvenile polyposis should be done by eight to ten years of age with high-risk family history. An average-risk child by 15 years of age should be screened. And any symptoms related to the syndrome should be screened.
What Is the Test Done to Diagnose Juvenile Polyposis Syndrome?
Signs associated with JPS are evaluated, like rectal bleeding, constipation, abdominal pain, changes in stool, and diarrhea.
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An upper endoscopy and a colonoscopy should be done at age 15 or even earlier if the symptoms prevail. These tests are repeated every one to three years based on the number of polyps.
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Surgery: Individuals with a large number of polyps that cannot be removed during endoscopy need surgery to remove part of the stomach or colon.
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CT Scan (computed tomography scan): This test combines a series of X-rays and images taken from different angles of the body using computer processing techniques.
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MRI (magnetic resonance imaging): It is a type of scan that uses radio waves and strong magnetic fields to produce detailed images of organs and the structure of the body.
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Echocardiogram: Echocardiogram is an ultrasound test of a heart. It is a type of medical imaging of the heart that uses standard ultrasound and Doppler ultrasound.
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A genetic blood test: Genetic blood test is a medical test that identifies changes in chromosomes, proteins, and genes. A genetic test confirms suspected gene conditions to determine an individual's chance of inheriting and developing the genetic condition.
How Is the Management of Juvenile Polyposis Done?
The treatment of juvenile polyposis is focused on removing polyps to relieve the symptoms. The healthcare provider will suggest a treatment plan based on age, health, number of polyps, and location of polyps. Polyps are removed by a procedure called a polypectomy. They include:
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Polyp removal during an endoscopic examination or a colonoscopy examination.
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Surgery to remove polyps.
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Surgery is performed to remove the infected parts of the intestines and stomach.
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Surgeries to remove polyps are rarely performed on children unless the polyp is significant.
Conclusion:
There is no cure for juvenile polyposis. Early detection and immediate medical care of polyps can lead to the best result and minimize symptoms. Polyps are likely to recur over time, and repeated treatment is necessary. Individuals with juvenile polyposis have around a 30 to 50 % risk of developing cancer of the gastrointestinal tract. After the removal of polyps, healthcare providers may recommend a temporary diet to reduce irritation of the digestive system.
