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Juvenile Polyposis Syndrome



  • He was initially diagnosed with Juvenile polyposis syndrome (JPS) at age four after presenting with hematochezia due to multiple colonic juvenile polyps.[ncbi.nlm.nih.gov]
  • Solitary juvenile polyps most commonly occur in the rectum and present with rectal bleeding.[en.wikipedia.org]
  • When symptoms are present, hey may include: Bleeding from the rectum Anemia with tiredness or pallor due to significant bleeding in stools A change in bowel habits such as constipation or diarrhea Physical examination A physical examination may show the[news-medical.net]
  • Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.[invitae.com]
Abdominal Pain
  • Multiple polyps along all parts of the colon were diagnosed at the age of 3 years, following an episode of a severe abdominal pain and intestinal bleeding.[ncbi.nlm.nih.gov]
  • Affected individuals may present with rectal bleeding, abdominal pain, diarrhea or anemia. On colonoscopy or sigmoidoscopy polyps that vary in shape or size are present. The polyps can be sessile or pedunculated hamartomatous polyps.[en.wikipedia.org]
  • Affected individuals may experience abdominal pain, diarrhea, rectal bleeding, anemia, and have an increased risk of developing gastrointestinal cancers.[arup.utah.edu]
  • Common symptoms include gastrointestinal bleeding, anemia, diarrhea, and abdominal pain.[ambrygen.com]
  • Regardless of the subtype, the clinical signs of JIP are isolated rectal bleeding, anemia, abdominal pain, intussusceptions and diarrhea.[orpha.net]
Failure to Thrive
  • The affected child often develops a condition called protein-losing enteropathy, which leads to severe malnutrition, wasting, and failure to thrive despite adequate feeding.[news-medical.net]
  • This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia).[ghr.nlm.nih.gov]
  • FJP, also described in the literature as juvenile polyposis, is characterized by multiple inflammatory polyps throughout the colon that are associated with painless rectal bleeding (rare serious hemorrhage), rectal prolapse, and failure to thrive.[emedicine.medscape.com]
Severe Abdominal Pain
  • Multiple polyps along all parts of the colon were diagnosed at the age of 3 years, following an episode of a severe abdominal pain and intestinal bleeding.[ncbi.nlm.nih.gov]
  • We report an unusual case of JPS associated with massive gastric polyposis, resulting in a giant stomach, severe anemia, hematemesis, protein-losing enteropathy, and gastric outlet obstruction.[ncbi.nlm.nih.gov]
Recurrent Abdominal Pain
  • Symptoms include recurrent abdominal pain, protrusion of a polyp through the anus, diarrhea, and anemia. 6 Histological description of the lesions includes hyperplasia, dilated irregular glands, mucus filled cystic glands, edematous lamina propria with[pagepress.org]
Heart Disease
  • Five patients (11%) had valvular heart disease. Telangiectasia/vascular abnormalities were observed in 4 (9%) patients, and macrocephaly was observed in 5 (11%).[ncbi.nlm.nih.gov]
  • Associations Other congenital abnormalities are present in 20% of patients 1,2 : intestinal malrotation Meckel diverticulum hydrocephalus congenital heart disease mesenteric lymphangioma pulmonary arteriovenous malformation Treatment and prognosis These[radiopaedia.org]
  • disease Malformation of the pulmonary circulation Lymphangioma of the mesentery Meckel’s diverticulum Abnormalities of the genitourinary tract Cleft palate Polydactyly References Further Reading Juvenile Polyposis Syndrome Juvenile Polyposis Syndrome[news-medical.net]
  • Patients with JP have been reported with other morphologic characteristics such as digital clubbing, congential heart disease, cleft lip or palate and alopecia.[clinicaladvisor.com]


  • To the best of our knowledge, we present the first case in the radiologic literature on the MRI findings in a patient with this rare combined diagnosis undergoing workup for burden of disease.[ncbi.nlm.nih.gov]
  • Make a comprehensive diagnostic workup with data from ancillary techniques and molecular findings whenever appropriate. Effectively grasp complex topics and streamline decision- making by using extensive tables, graphs, and flowcharts.[books.google.com]
Helicobacter Pylori
  • AIM: We report a family with juvenile polyposis syndrome where one member showed typical features of Ménétrier's disease and concomitant Helicobacter pylori infection.[ncbi.nlm.nih.gov]


  • The aim of this study was to review our experience with juvenile polyposis syndrome with emphasis on the diversity of polyp pathology and distribution and the recommended treatment.[ncbi.nlm.nih.gov]
  • The care of affected individuals should be individualised based on their clinical situation, and the monitoring they need as part of their treatment and post-treatment follow up. Known SMAD4 or BMPR1A mutation carrier.[eviq.org.au]
  • Management and treatment Management should involve routine colonoscopy and if the number of polyps remains low endoscopic polypectomy is the gold standard for treatment.[orpha.net]


  • Prognosis The prognosis of JIP is based on the risk of developing GI or pancreatic cancer after 20 years of age. The cumulative risk for developing cancer in patients with JIP is 20% at the age of 35 years and 68% after the age of 60 years.[orpha.net]
  • At the time the pathology report was received, the boy remained in critical condition and was discharged at the request of the family and due to his overall poor prognosis.[pagepress.org]
  • Associations Other congenital abnormalities are present in 20% of patients 1,2 : intestinal malrotation Meckel diverticulum hydrocephalus congenital heart disease mesenteric lymphangioma pulmonary arteriovenous malformation Treatment and prognosis These[radiopaedia.org]
  • What is the Prognosis of Juvenile Polyposis Syndrome? (Outcomes/Resolutions) The prognosis of Juvenile Polyposis Syndrome is dependent upon the age of manifestation, severity of symptoms, and stage of the cancer, if polyps turn malignant.[dovemed.com]


  • Etiology JIP is transmitted in an autosomal dominant manner and mutations in the SMAD4 (18q21.1) and BMPR1A (10q22.3) genes have been associated with the disease. However, no genetic anomalies have been identified so far in around 60% of the cases.[orpha.net]
  • Colonoscopy ( confirmatory test ) References: [1] Treatment Treatment depends on the etiology and nature of the polyp or polyps. References: [1] [2][amboss.com]
  • (Etiology) Juvenile Polyposis Syndrome is caused by mutation(s) in the BMPR1A and SMAD4 genes.[dovemed.com]
  • […] multiple digestive juvenile polyps gastric juvenile polyps colorectal juvenile polyps Association hereditary hemorrhagic telangiectasia ( 11795766, 9892274, 8165825 ) arachnoid cyst of the posterior fossa with cerebellar tentorium dysplasia ( 12686769 ) Etiology[humpath.com]


  • EPIDEMIOLOGY JPS is rare, with an estimated incidence of 1 in 100,000 to 160,000 individuals [ 1 ]. GENETICS JPS is an autosomal dominant condition with incomplete penetrance [ 5 ].[uptodate.com]
  • Summary Epidemiology Annual incidence is estimated at between 1/100,000 and 1/15,000.[orpha.net]
  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. Etiology Classification The majority of colon carcinomas develop from adenomas ( adenoma‑carcinoma sequence).[amboss.com]
  • Archives of gastroenterohepatology , 19: 12-18 [ CR ] [ PM ] [ EČ ][ 3 ][ GS ] Wilmink, A.B. (1997) Overview of the epidemiology of colorectal cancer.[scindeks.ceon.rs]
  • Colorectal juvenile polyps: an epidemiological and histopathological study of 144 cases in Jordanians. Histopathology 1984 ; 8 : 765 –79. (Category: III) ASCO .[gut.bmj.com]
Sex distribution
Age distribution


  • Although its inheritance is unclear, hereditary and sporadic cases have been described in the literature. [15] Pathophysiology With the exception of Cronkhite-Canada Syndrome, all of the intestinal polyposis syndromes have been associated with genetic[emedicine.medscape.com]


  • Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages.[ncbi.nlm.nih.gov]
  • Can juvenile polyposis syndrome be prevented? JPS is an inherited disease so it is not possible to prevent it.[clevelandclinic.org]
  • Treatment The main aim of treating the juvenile polyposis syndrome is to prevent the development of malignant tumors from any of the polyps, and to prevent complications due to an excessively large polyp.[news-medical.net]
  • At the present time, there are no methods or guidelines for the prevention of Juvenile Polyposis syndrome, since it is a genetic disorder Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of[dovemed.com]

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