BMPR1A-Related Juvenile Polyposis

BMPR1A-Related Juvenile Polyposis

Article
Digestive Health
Diseases & Conditions
+2
Contributed byKrish Tangella MD, MBAFeb 06, 2024

The topic BMPR1A-Related Juvenile Polyposis you are seeking is a synonym, or alternative name, or is closely related to the medical condition Juvenile Polyposis Syndrome.

Quick Summary:

  • Juvenile Polyposis Syndrome (JPS) is a disorder characterized by multiple hamartomatous benign growths or polyps, usually in large intestines. Hamartomas arise as a result of disorganized growth of cells
  • The term “juvenile” (in Juvenile Polyposis Syndrome) refers to typical traits of the polyp (smooth, cystic, lobulated growths, with or without stalks), and not the age at which the syndrome manifests
  • Juvenile Polyposis Syndrome occurs worldwide, and can either be inherited or develop spontaneously. The familial type of JPS is caused by mutation(s) in the BMPR1A and SMAD4 genes
  • There are 3 variants of JPS:
    • Juvenile Polyposis of Infancy: It is the most severe form, which results in protein-losing enteropathy. The affected children lose valuable proteins through diarrhea, leading to growth retardation
    • Generalized Juvenile Polyposis: The characteristic trait of this variant is the presence of numerous polyps throughout the gastrointestinal tract of the affected individual during childhood
    • Juvenile Polyposis Coli: In this type, individuals develop polyps only in the colon, during childhood 
  • The signs and symptoms of JPS may include diarrhea, vomiting, rectal bleeding, and abdominal pain, among others. The potential complications include benign polyps turning cancerous, bleeding from the polyps, and protein-losing enteropathy in children
  • The treatment of Juvenile Polyposis Syndrome is undertaken symptomatically. Also, benign tumors may be surgically removed, while malignant tumors may be additionally treated using chemotherapy and/or radiation therapy
  • The prognosis of JPS is determined by the age of manifestation of the condition, with the infantile form being the most severe. If the polyps turn malignant, then the stage at which the cancer is diagnosed determines the outcome

Please find comprehensive information on Juvenile Polyposis syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA picture
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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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