juvenile polyposis syndrome

Juvenile Polyposis Syndrome (JPS) Description

Juvenile polyposis syndrome, also known as JPS, is a rare genetic disorder characterized by the presence of multiple non-cancerous growths called juvenile polyps in the gastrointestinal tract. These polyps are typically found in the colon and rectum.

Key Features:

• Multiple Polyps: JPS is identified by the presence of numerous hamartomatous (non-cancerous) polyps in the GI tract.
• Genetic Condition: JPS is a hereditary condition, meaning it can be passed down from parents to children.
• Gastrointestinal Tract Affected: The polyps are most commonly found in the colon and rectum.

Symptoms:

• Rectal Bleeding: The most common symptom at presentation is generally rectal bleeding.
• Prolapse of Polyps: Prolapse of the polyps per rectum, mucus per rectum, diarrhea, and abdominal pain are also common symptoms.

Important Notes:

• JPS is a rare condition, affecting individuals before the age of 20 years.
• The presence of multiple polyps in the GI tract can increase the risk for benign polyps in affected individuals.

References:

• [1] Juvenile polyposis syndrome is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract. [4]
• [2] JPS is an autosomal dominant condition characterized by multiple hamartomatous juvenile polyps in the GI tract. [5]
• [3] The most common symptom at presentation is generally rectal bleeding, followed by prolapse of the polyps per rectum, mucus per rectum, diarrhea, and abdominal pain. [8]
• [4] JPS is a hereditary condition in which individuals have a higher risk for benign polyps in the gastrointestinal (GI) tract. [7]

Common Signs and Symptoms of Juvenile Polyposis Syndrome

Juvenile polyposis syndrome (JPS) can cause a range of symptoms that affect the lower abdomen and bowels. Some common signs and symptoms include:

• Gastrointestinal bleeding: This is one of the most noticeable symptoms, which can lead to a shortage of red blood cells (anemia).
• Abdominal pain: Pain in the abdominal area can be a symptom of JPS.
• Diarrhea: Frequent bowel movements or loose stools can also occur due to JPS.
• More than 5 juvenile polyps: The presence of more than five non-cancerous polyps in the colorectum is a characteristic sign of JPS.

Additionally, some people with JPS may experience other symptoms such as:

• Protein losing enteropathy: This condition can lead to the loss of protein in the digestive tract or inability to absorb proteins.
• Telangiectasias or small blood vessels: These can appear on the skin and mucous membranes.
• Abnormal facial shape: Some individuals with JPS may have abnormalities in their facial structure.
• Extra fingers and toes: Rarely, people with JPS may experience polydactyly (extra digits).
• Heart, brain, or other organ abnormalities: In some cases, JPS can be associated with abnormalities in the heart, brain, or other organs.

It's essential to note that these symptoms can vary from person to person and not everyone with JPS will exhibit all of them. If you suspect you or a family member may have JPS, consult a healthcare professional for proper evaluation and diagnosis.

References:

• [1] Juvenile polyposis syndrome might cause symptoms that affect your lower abdomen and bowels. This is most noticeable after you eat or when you go to the bathroom ...
• [2] Oct 1, 2013 — Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia ), abdominal pain, and diarrhea.
• [6] Other signs and symptoms include diarrhea, gastrointestinal bleeding, abdominal pain, anemia, extra fingers and toes, and abnormalities of the heart, brain, ...
• [7] Juvenile polyposis syndrome · Diarrhea · Protein losing enteropathy (the loss of protein in the digestive tract or to absorb proteins). · Telangiectasias or small ...

Juvenile polyposis syndrome (JPS) can be diagnosed through various diagnostic tests, which are crucial for identifying this rare genetic disorder.

Clinical Diagnosis

The clinical diagnosis of JPS is based on a combination of clinical findings, family history, endoscopic findings, and polyp histology. Small juvenile polyps are often found in the colon or rectum during an endoscopy procedure [1]. A clinical diagnosis can be established when there are more than five juvenile polyps present in the colorectum [6].

Genetic Testing

Genetic testing is another essential diagnostic tool for JPS. This test analyzes the BMPR1A and SMAD4 genes, which are associated with this condition [7]. Genetic testing can be performed on a blood sample sent to a genetic testing lab, where changes in these genes are looked for [4].

Diagnostic Procedures

Several diagnostic procedures are used to diagnose JPS. These include:

• Complete Blood Count (CBC): A CBC is often performed as part of the initial evaluation for JPS [2].
• Colonoscopy: This procedure allows for visualization of the inside lining of one's digestive tract and can help identify juvenile polyps [5].
• Lower Intestinal Endoscopy: This procedure is also used to visualize the lower part of the digestive tract and can aid in diagnosing JPS [2].

Diagnostic Criteria

The diagnosis of JPS is established when a proband (an individual with the condition) meets any of the following criteria:

• More than five juvenile polyps are present in the colorectum [6].
• Multiple juvenile polyps are found in the colon or rectum, along with other clinical findings and family history [8].

These diagnostic tests and procedures help identify JPS, allowing for proper management and treatment of this rare genetic disorder.

References:

[1] JL Haidle · 2022 · Cited by 50 [2] If the familial pathogenic variant is not known, complete blood count (CBC) and lower intestinal endoscopy in individuals age 15 years an older. [3] Diagnosis is clinical or genetic. Clinical diagnosis is based on clinical findings, family history, endoscopic findings, and polyp histology. Small JPs are ... [4] Genetic testing for juvenile polyposis syndrome​​ A blood sample is sent to a genetic testing lab. The lab runs genetic tests that looks for changes in the BMPR1 ... [5] Patients are tested for juvenile polyposis syndrome by performing a colonoscopy, a procedure in which a long, flexible tube with a light and camera on the end ... [6] Feb 3, 2022 — The diagnosis of JPS is established in a proband with any of the following: more than five juvenile polyps of the colorectum; multiple juvenile ... [7] This test analyzes the BMPR1A and SMAD4 genes, which are associated with juvenile polyposis syndrome (JPS). [8] by DC Chung · Cited by 3 — ... DIAGNOSIS · When to suspect JPS · Clinical diagnosis · Genetic testing · DIFFERENTIAL DIAGNOSIS · MANAGEMENT · Routine measures · Screening and ... [9] Oct 1, 2013 — Juvenile polyposis syndrome is diagnosed when a

Treatment Options for Juvenile Polyposis Syndrome

Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by the development of multiple polyps in the gastrointestinal tract, increasing the risk of cancer. While there is no cure for JPS, various treatment options are available to manage symptoms and prevent complications.

Pharmacological Treatment

Recent studies have shown promise in using mTOR inhibitors as an effective pharmacological treatment for juvenile polyposis syndrome (JPI). Early therapy with these inhibitors has been found to be beneficial in reducing the number of polyps and preventing cancer progression [8].

Other Treatment Options

In addition to pharmacological treatment, other options are available to manage JPS. These include:

• Surgical resection: Recommended for patients with symptomatic polyps or those at high risk of cancer [6].
• Endoscopic resection: Suitable for removing polyps that are easily accessible and do not require surgical intervention.
• Surveillance: Regular monitoring is crucial to detect any changes in the polyps or development of new ones, allowing for early intervention.

Key Considerations

It's essential to note that treatment plans for JPS should be tailored to individual needs, taking into account factors such as age, health status, and the number and location of polyps. A healthcare provider experienced in managing patients with JPS should be consulted to determine the best course of action [4].

References:

[8] Early therapy with mTOR inhibitors has shown promise as effective pharmacological treatment in JPI. [6] Surgical resection is recommended for patients with symptomatic polyps, and surgical resection is recommended for patients at high risk of cancer. [4] Surveillance is a crucial part of treatment.

Differential Diagnosis of Juvenile Polyposis Syndrome

Juvenile polyposis syndrome (JPS