Changing the Care Model for Children with Hereditary GI Polyposis Syndromes

The colonoscopy found multiple polyps. Now what?

The scene may be somewhat familiar: A child with rectal bleeding undergoes a colonoscopy and you come across not one polyp, not two, but many. The immediate questions are familiar: how many should be removed? What will the histology show? When should the next colonoscopy be performed?

But when those polyps signal a hereditary polyposis syndrome, the harder questions begin days after the procedure.

Does this child need genetic testing? What does the diagnosis mean for the family? How do we come up with a long-term surveillance plan? How do repeated procedures, uncertainty about cancer risk and the prospect of lifelong surveillance affect the patient and the parents? How are they coping? And who is responsible for making sure that care does not fragment as the child moves through adolescence and eventually into adult medicine?

Changing care for children with hereditary gastrointestinal polyposis syndromes

These questions have led us at Children’s Mercy to think differently about pediatric hereditary polyposis. Endoscopic surveillance remains essential, but it is only one aspect of care. Our program brings pediatric gastroenterology and endoscopic expertise together with integrated genetics, psychology, surgery and care coordination, with the aim of managing not simply the polyps, but the inherited disorder and its consequences for the child and family over time.

A model built around the child and family

Hereditary gastrointestinal polyposis syndromes are uncommon, but their effects extend far beyond the endoscopy suite. A diagnosis may mean repeated invasive procedures beginning in childhood, uncertainty surrounding genetic findings, implications for parents and siblings, anxiety about future cancer risk and medical procedures, and ultimately, transfer to an adult health care system that must continue lifelong surveillance and may not have experience in caring for young adults with these diagnoses. Surveillance must evolve with age and be tailored to growth and development.

Decisions about genetic testing may involve both parents and children. School and social functioning, quality of life and emotional health can be affected by recurrent procedures and chronic disease. Eventually, responsibility for a complex inherited condition must shift from parent to parent and adolescent and then to the young adult.

The Children’s Mercy program is designed around these realities

Pediatric gastroenterology provides syndrome-specific surveillance and treatment; genetics clarifies diagnosis, inheritance and family implications; psychology addresses adjustments, coping and self-management to navigate lifelong disease surveillance and transition to adult care. A dedicated nurse coordinator connects these elements, helping families navigate surveillance procedures, other diagnostic tests and long-term follow-up.

The goal is to move beyond specialists working in silos and toward a coordinated program in which medical, genetic and psychosocial considerations inform one another.

Looking beyond the next colonoscopy

In polyposis care, it is easy to focus on the next procedure: identify the important lesions, remove them safely and decide when to plan the next colonoscopy or if surgery is needed. But life is measured in decades, not colonoscopies.

A child diagnosed today will require lifelong surveillance. The child’s disease expression, understanding of the diagnosis and role in medical decision-making will evolve, as will the importance of cancer risk. Genetic testing will continue to evolve, better informing our understanding of the child’s trajectory. Importantly, the transition to adult care is part of the clinical pathway, not simply an administrative event.

Learning from patients and families

Our multidisciplinary model has also been shaped by research examining the experiences of children and families living with hereditary polyposis.

Families describe burdens extending well beyond the physical effects of polyps: anxiety surrounding procedures and cancer risk, uncertainty about genetic findings and future health care needs, implications for siblings and the difficulty of explaining inherited risk to a child who may otherwise feel well. These findings reinforce why biopsychosocial care is not peripheral to polyposis management, but a central tenet of managing the disease itself.

Advancing care through research

Important questions remain about the pediatric natural history of these syndromes, optimal surveillance, endoscopic phenotype and the biological mechanisms driving polyp growth.

Our research therefore extends from clinical outcomes and endoscopic management to molecular investigation. Collaboration among Pediatric Gastroenterology, the Children’s Mercy Research Institute and the Genomic Medicine Center is creating opportunities to apply genomic and other molecular approaches to GI research specimens and link molecular findings with defined clinical behavior.

The longer-term goal is more individualized care based not only on the syndrome diagnosis, but on the patient’s unique phenotype and the biology driving their disease.

A different way forward

Finding multiple polyps may be what first brings a child to our attention, but it should not define the limits of their care. Removing polyps is essential, but so are establishing the diagnosis, understanding its implications for the family, addressing the psychosocial impact of what comes next along with preparing the adolescent for adult care. That requires more than an endoscopy program.

The colonoscopy may reveal the problem. What happens afterward is where comprehensive hereditary polyposis care begins.