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PubMed This is a summary of 17 peer-reviewed journal articles Updated
Gastroenterology

Building Your Care Team

At a Glance

Because Juvenile Polyposis Syndrome (JPS) is rare, patients need a specialized, multidisciplinary care team. This team should include an experienced gastroenterologist, clinical geneticist, and surgeon. Patients with SMAD4 mutations also require screening by specialists for vascular complications.

Because Juvenile Polyposis Syndrome (JPS) is a rare and complex condition, your local general practitioner or general gastroenterologist may only see one case in their entire career. For this reason, it is vital to build a specialized, multidisciplinary care team that understands the specific risks of JPS and, if applicable, the vascular complications of Hereditary Hemorrhagic Telangiectasia (HHT) [1][2].

Your Essential JPS Specialists

A strong care team should be centered around a major academic hospital or a “Polyposis Registry”—a center that specializes in tracking and treating families with hereditary polyps [2][3].

  • Gastroenterologist (GI): You need a GI specialist who is experienced in hamartomatous polyposis [1]. They will perform your endoscopies and colonoscopies and must be skilled in removing large or complex polyps without surgery whenever possible [4].
  • Clinical Geneticist: This specialist interprets your genetic test results (SMAD4, BMPR1A, or microdeletions) and helps you understand what they mean for you and your family members. They can also refer you to reproductive counselors if needed [5][6].
  • Specialized Surgeon: Even if surgery isn’t needed now, you should have a relationship with a colorectal or pediatric surgeon who understands the unique challenges of JPS-related surgeries, such as a total colectomy [7][8].
  • HHT Center Specialists (for SMAD4 carriers): If you carry the SMAD4 mutation, your team must include specialists who can screen for vascular malformations (AVMs) [9][10]. This often includes:
    • Pulmonologist (Lung specialist)
    • Neurologist (Brain specialist)
    • Cardiologist (Heart specialist) [11][12]

Preparing for Your First Appointment

To get the most out of your first visit with a JPS specialist, you must bring the following essential records:

  1. Genetic Test Results: The full report showing the exact mutation (e.g., the specific variant in SMAD4 or BMPR1A) [5].
  2. Pathology Reports: Detailed reports from previous polyp biopsies. It is not enough to know you had “polyps”; the specialist needs to see that they were officially identified as hamartomatous [13][14].
  3. Endoscopy/Colonoscopy Images: Actual images or detailed procedure reports from every past scan.
  4. Family History: A “family tree” noting any relatives who had polyps, colon cancer, or stomach cancer, and the ages they were diagnosed [15][6].

Vetting Your Team

Don’t be afraid to interview your doctors. A provider who is comfortable with rare diseases will welcome your engagement. Ask:

  • “How often do you manage patients with this specific genetic mutation?”
  • “Are you familiar with the most recent ESPGHAN or U.S. Multi-Society Task Force guidelines for JPS?” [1][16]
  • “Do you have a dedicated genetics coordinator or registry to help us track our lifelong screening schedule?” [2]

Your care team is your partner in a lifelong journey. Taking the time to ensure they have the right expertise is the best way to ensure high-quality, proactive care [17][1].

Common questions in this guide

What doctors should be on my Juvenile Polyposis Syndrome care team?
Your core care team should include a gastroenterologist experienced in hamartomatous polyposis, a clinical geneticist, and a specialized surgeon. If you have a SMAD4 mutation, you will also need specialists to screen for vascular malformations.
Why do I need a specialized gastroenterologist for JPS?
A specialized gastroenterologist is essential because they are experienced in performing careful endoscopies and colonoscopies for JPS. They are skilled at safely removing large or complex hamartomatous polyps without requiring invasive surgery.
What records should I bring to my first JPS specialist appointment?
You should bring your complete genetic test results, detailed pathology reports showing your polyps are hamartomatous, images or procedure reports from past colonoscopies, and a detailed family history tree.
If I have a SMAD4 mutation, what other specialists do I need to see?
Patients with a SMAD4 mutation are at risk for Hereditary Hemorrhagic Telangiectasia (HHT) and vascular malformations. Your care team should include a pulmonologist, neurologist, and cardiologist at an established HHT Center of Excellence.
How do I know if a doctor has enough experience with JPS?
You can ask potential doctors how many JPS patients they currently manage and if they follow specific guidelines for surveillance. Providers who are comfortable with rare diseases will welcome these questions and be transparent about their experience.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many patients with Juvenile Polyposis Syndrome do you currently manage in your practice?
  2. 2.Do you follow a specific institutional or international protocol (such as ESPGHAN or U.S. Multi-Society Task Force guidelines) for JPS surveillance?
  3. 3.If I have a SMAD4 mutation, do you have an established referral pathway to an HHT Center of Excellence for vascular screening?
  4. 4.How does your team coordinate care between the gastroenterologist, geneticist, and surgeon?
  5. 5.What is your approach to managing polyps that are difficult to reach or remove endoscopically?

Questions For You

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References

References (17)
  1. 1

    Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group.

    MacFarland SP, Becktell K, Schneider KW, et al.

    Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(20)):4566-4571 doi:10.1158/1078-0432.CCR-24-0953.

    PMID: 39190470
  2. 2

    Practical management of polyposis syndromes.

    Patel R, Hyer W

    Frontline gastroenterology 2019; (10(4)):379-387 doi:10.1136/flgastro-2018-101053.

    PMID: 31656563
  3. 3

    Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.

    Zaffaroni G, Mannucci A, Koskenvuo L, et al.

    The British journal of surgery 2024; (111(5)) doi:10.1093/bjs/znae070.

    PMID: 38722804
  4. 4

    Juvenile polyposis syndrome: An overview.

    Dal Buono A, Gaiani F, Poliani L, Laghi L

    Best practice & research. Clinical gastroenterology 2022; (58-59()):101799 doi:10.1016/j.bpg.2022.101799.

    PMID: 35988962
  5. 5

    Giant Gastric Folds in Juvenile Polyposis.

    Leonard NB, Bronner MP

    Case reports in gastroenterology 2021; (15(3)):985-993 doi:10.1159/000521125.

    PMID: 35110986
  6. 6

    Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

    Liu Q, Liu M, Liu T, Yu Y

    BMC medical genetics 2020; (21(1)):196 doi:10.1186/s12881-020-01135-6.

    PMID: 33032550
  7. 7

    Juvenile polyposis syndrome: A case report.

    Pérez-Castilla A, Peñailillo P, Oksenberg D

    International journal of surgery case reports 2019; (59()):73-75 doi:10.1016/j.ijscr.2019.04.041.

    PMID: 31108454
  8. 8

    Juvenile polyposis syndrome: A case report.

    Mogere E, Mwaura E, Waithaka M, et al.

    Clinical case reports 2023; (11(1)):e6798 doi:10.1002/ccr3.6798.

    PMID: 36619487
  9. 9

    Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

    Boland CR, Idos GE, Durno C, et al.

    Gastroenterology 2022; (162(7)):2063-2085 doi:10.1053/j.gastro.2022.02.021.

    PMID: 35487791
  10. 10

    Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl.

    Hashimoto Y, Yokoyama K, Kumagai H, et al.

    Clinical journal of gastroenterology 2020; (13(6)):1096-1101 doi:10.1007/s12328-020-01238-w.

    PMID: 32944796
  11. 11

    Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene.

    Kang B, Hwang SK, Choi S, et al.

    Translational pediatrics 2021; (10(5)):1369-1376 doi:10.21037/tp-21-12.

    PMID: 34189096
  12. 12

    SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia.

    Vorselaars VMM, Diederik A, Prabhudesai V, et al.

    International journal of cardiology 2017; (245()):114-118 doi:10.1016/j.ijcard.2017.06.059.

    PMID: 28874282
  13. 13

    The c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant.

    Valentín F, de Tejada AH, Gonzaléz-Vioque E, et al.

    Molecular genetics & genomic medicine 2024; (12(1)):e2348 doi:10.1002/mgg3.2348.

    PMID: 38146137
  14. 14

    A juvenile polyp on colonoscopy, is it premalignant?

    Kumar K, Patel H, Tariq H, et al.

    Clinical case reports 2019; (7(12)):2605-2606 doi:10.1002/ccr3.2561.

    PMID: 31893117
  15. 15

    Clinical Assessment and Genetic Testing for Hereditary Polyposis Syndromes in an Italian Cohort of Patients with Colorectal Polyps.

    Fasano C, Cariola F, Forte G, et al.

    Cancers 2024; (16(21)) doi:10.3390/cancers16213617.

    PMID: 39518056
  16. 16

    Paediatric polyposis syndromes: burden of disease and current concepts.

    Phen C, Rojas I

    Current opinion in pediatrics 2021; (33(5)):509-514 doi:10.1097/MOP.0000000000001044.

    PMID: 34261898
  17. 17

    Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.

    Cohen S, Yerushalmy-Feler A, Rojas I, et al.

    Journal of pediatric gastroenterology and nutrition 2024; (79(1)):161-167 doi:10.1002/jpn3.12257.

    PMID: 38801072

This page provides educational information about building a Juvenile Polyposis Syndrome (JPS) care team. It does not replace professional medical advice. Always consult your healthcare provider to discuss your specific specialist referral needs.

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