Juvenile polyposis syndrome
Juvenile polyposis syndrome (JPS) is a hereditary condition characterized by the formation of multiple polyps in the gastrointestinal tract, which can increase the risk of colon cancer. It is classified into different types, including juvenile polyposis of infancy, generalized juvenile polyposis, and juvenile polyposis coli, each affecting specific age groups and areas of the gastrointestinal system. The syndrome is predominantly caused by mutations in the SMAD4/DPC4 and BMPR1A genes, with about 75% of cases being inherited. Symptoms often present in childhood, commonly manifesting as rectal bleeding, which can lead to iron deficiency anemia if persistent. Diagnosis typically involves identifying multiple polyps or a family history of the condition, with early screening recommended for relatives of affected individuals. Effective treatment includes the removal of polyps, significantly lowering the risk of colon cancer and improving overall prognosis. Despite its hereditary nature, JPS is considered rare compared to other causes of colon cancer, with the incidence of associated cancers peaking at around age sixty. Regular surveillance and polypectomy are crucial in managing the condition and preventing complications.
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Juvenile polyposis syndrome
ALSO KNOWN AS: JPS, multiple polyposis coli
RELATED CONDITIONS: Hereditary colon cancer syndromes, colorectal carcinoma
DEFINITION: Juvenile polyposis syndrome is a hereditary disease in which patches of overproliferative inner intestinal tissue (polyps) occur, which can progress to colon cancer. The types of juvenile polyposis syndrome include juvenile polyposis of infancy (JPI), which impacts very young children; generalized juvenile polyposis, which is the most common type that forms anywhere in the gastrointestinal tract; and juvenile polyposis coli, which causes polyps in the colon.
Risk factors: A family history is an important in juvenile polyposis syndrome, particularly the diffuse type. Risk factors for subsequent development of colon cancer include increasing age and duration of disease.
Etiology and the disease process: Juvenile polyposis syndrome is an autosomal dominant disease caused by mutations in two genesSMAD4/DPC4 on chromosome 18q21 and BMPR1A on chromosome 10q21-22. These mutations predispose proliferating intestinal glandular tissue to developing into cancerous cells. Around 75 percent of cases are inherited. Most individuals develop symptoms and receive a diagnosis before age twenty.
Incidence: Juvenile polyposis syndrome is rare compared with other causes of colon cancer despite its inheritance pattern. The name juvenile is a misnomer. The incidental discovery of a polyp can occur as early as infancy. In addition, juvenile polyposis syndrome peaks during two age groupslate childhood (average age of nine years) and young adulthood (up to twenty). The incidence of detected colon cancer peaks at around age sixty.
Symptoms: The first symptom in a child is usually bleeding from the rectum, owing to spontaneous amputation of a polyp. The bleeding often stops without further intervention. However, several instances of bleeding over time may predispose the patient to iron deficiency anemia in more extreme cases, seen as slowing growth, fatigue, and pallor. Persistent, intermittent abdominal pain can result from the intestine telescoping into itself (intussusception), with a polyp as the lead point. In adults, similar symptoms may be observed.
Screening and diagnosis: The diagnosis of juvenile polyposis syndrome is suggested by a patient with three to five polyps or a family history in conjunction with the physical finding of a polyp. Isolated polyps removed or that avulse (tear away) and bleed spontaneously require no further intervention. Once they have been removed, they no longer put the patient at risk for colon cancer later in life. Screening colonoscopies are done earlier in individuals with afflicted first-degree relatives, starting at twelve, and performed every three years.
Treatment and therapy: Polyps should be removed (polypectomy), whether through colonoscopy or surgical removal of the entire colon.
Prognosis, prevention, and outcomes: Removing all polyps detected by regular colonic surveillance improves the prognosis. Patients who have this done also have a significant decrease in the risk of developing colon cancer. Individuals with juvenile polyposis syndrome are at an increased risk of developing pancreatic, colorectal, intestinal, and stomach cancers.
Bibliography
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Dal Buono, Arianna, et al. "Juvenile Polyposis Syndrome: An Overview." Best Practice & Research Clinical Gastroenterology, vol. 58, 2022. doi.org/10.1016/j.bpg.2022.101799.
Guillem, Jose G., and Garrett Friedman. Management of Hereditary Colorectal Cancer: A Multidisciplinary Approach. Springer, 2020.
Haidle, Joy Larsen, et al. "Juvenile Polyposis Syndrome." National Library of Medicine, Feb. 2022, www.ncbi.nlm.nih.gov/books/NBK1469. Accessed 20 June 2024.
"Juvenile Polyposis Syndrome (JPS)." Cleveland Clinic, 24 May 2022, my.clevelandclinic.org/health/diseases/15221-juvenile-polyposis-syndrome-jps. Accessed 20 June 2024.
Potter, John D., and Noralane M. Lindor. Genetics of Colorectal Cancer. Springer, 2009.