Developing New Clinical Recommendations for Hereditary Polyposis in Children
Practical Guidance for Management of Pediatric Patients
Polyps are relatively common in children and typically do not signal a risk of serious illness. However, in some children who have several polyps or a suspicious family history, an increased cancer risk is quite possible. Most pediatric gastroenterologists see few patients with a major hereditary polyposis syndrome, so they are often unsure of how to manage care appropriately. They want to know:
- When do I start testing? What kind?
- How do I manage this syndrome?
- When surgery is indicated, what kind?
To date there have been no published guidelines specifically for children at risk of or affected by familial adenomatous polyposis, Peutz-Jeghers syndrome or juvenile polyposis syndrome.
Thomas M. Attard, MD, pediatric gastroenterologist with the Polyposis Center at Children’s Mercy Kansas City, has worked to change that. Dr. Attard is a member of ESPGHAN’s Polyposis Working Group, an effort that brought together recognized experts in the subject from across the world and who worked diligently over six years to create clear recommendations to serve as practical guides for use with pediatric and adolescent patients. Formed when the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) recognized the need for polyposis guidelines in 2012, the Polyposis Working Group reached final consensus in 2018. Guidelines were then presented, and position papers were published in the Journal of Pediatric Gastroenterology and Nutrition in March 2019.
Achieving Consensus on Care
The new recommendations are based on committee members’ review of existing literature and their expert opinions. They specifically address diagnosis, assessment, screening and treatment of all three hereditary polyposis syndromes in children and adolescents. With these new recommendations, gastroenterologists now have practical guidance for management of pediatric patients with these conditions.
The position papers support and educate providers to deliver informed, cautious care. Cancer risk is defined as clearly as can be, given the current evidence, and procedures and tests to prevent illness are tailored accordingly.
An Overview of the New Recommendations
Focus on syndrome-specific targets:
- Familial adenomatous polyposis: Focus on the timing of surgery to remove the colon
- Peutz-Jeghers syndrome: Focus on avoiding polyps that cause intestinal obstruction
- Juvenile polyposis syndrome: Focus on the genetic subgroup because of differences in non-intestinal testing needs
When to perform genetic testing:
- Familial adenomatous polyposis: 12-14 years
- Peutz-Jeghers syndrome: 3 years
- Juvenile polyposis syndrome: 12-15 years
All genetic testing should be conducted in conjunction with genetic counseling.
Who to test:
- Positive family history (autosomal dominant pattern of inheritance)
- Suspicious clinical findings [bilateral retinal abnormalities CHRPE (FAP), liver cancer, hepatoblastoma (FAP)*, multiple benign desmoids (FAP), mucocutaneous freckling (PJS)]
- Meet clinical criteria (endoscopic/extraintestinal findings)
*Although these are not officially part of the recommendations, they are in clinical practice today.
Diagnostic criteria:
For the first time, consensus exists among pediatric GI specialists about how to diagnose, as shown in the table below.
Position papers:
Complete details on the clinical recommendations for all three hereditary polyposis syndromes are included in the three ESPGHAN Polyposis Working Group position papers, available below:
- Management of Juvenile Polyposis Syndrome in Children and Adolescents1
- Management of Peutz-Jeghers Syndrome in Children and Adolescents2
- Management of Familial Adenomatous Polyposis in Children and Adolescents3
Learn More About the Polyposis Center at Children's Mercy
Thomas M. Attard, MD
tmattard@cmh.edu • (816) 302-3028
For consults, admissions or transport call: 1 (800) GO MERCY / 1 (800) 466-3729.
Children’s Mercy Kansas City is an independent, non-profit, 390-bed pediatric health system, providing over half a million patient encounters each year for children from across the country. Children’s Mercy is ranked by U.S. News & World Report in all ten specialties. We have received Magnet® recognition five times for excellence in nursing services. In affiliation with the University of Missouri-Kansas City, our faculty of nearly 800 pediatric specialists and researchers is actively involved in clinical care, pediatric research and educating the next generation of pediatricians and pediatric subspecialists. The Children’s Mercy Research Institute (CMRI) integrates research and clinical care with nationally recognized expertise in genomic medicine, precision therapeutics, population health, health care innovation and emerging infections. In 2021 the CMRI moved into a nine-story, 375,000-square-foot space emphasizing a translational approach to research in which clinicians and researchers work together to accelerate the pace of discovery that enhances care.
References:
Cohen S, Hyer W, Mas E, et al. Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper from the ESPGHAN Polyposis Working Group. Journal of Pediatric Gastroenterology and Nutrition. 2019;68: 453-462.
Latchford A, Cohen S, Auth M. et al. Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper from the ESPGHAN Polyposis Working Group. Journal of Pediatric Gastroenterology and Nutrition. 2019;68:442-452.
Hyer W, Cohen S, Attard T, et al.Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper from the ESPGHAN Polyposis Working Group. Journal of Pediatric Gastroenterology and Nutrition. 2019;68:428-441.