National Survey Reveals Divergent Practice Patterns in Hereditary Polyposis Syndromes

The results of a recent survey suggest a divergence in practice patterns among specialists who treat pediatric patients with certain hereditary polyposis syndromes (HPS). Researchers say understanding complementary and disparate approaches to managing these rare genetic syndromes is the key to greater consistency in pediatric care.

The complete survey results were published in Cancer Prevention Research.

Key similarities and differences in the 3 main subtypes

Recognition of HPS has increased, and additional subtypes have been described in recent years. However, three main syndromes are more likely to present in childhood: familial adenomatous polyposis (FAP), juvenile polyposis syndrome (JPS) and Peutz–Jeghers syndrome (PJS).

“These are lifelong conditions, but the decisions made in childhood are particularly important to these patients’ long-term quality of life,” notes Jacob Kurowski, MD, a pediatric gastroenterologist at Cleveland Clinic and first author of the report.

Each subtype carries a risk for colorectal and extra-intestinal cancers and requires genetic testing and ongoing surveillance. However, there are plenty of unique considerations for each subtype. Careful management and referral when appropriate should be practiced, he says. Outside of a known family history, notable clinical hallmarks include rectal bleeding, blood in the stool and numerous intestinal polyps, although each subtype has differentiating features.

“The polyps for JPS and PJS are much larger and vascular, and so those are more likely to present with bleeding,” says Dr. Kurowski, “whereas polyps in FAP are much smaller when the patient is younger and become more numerous as they age. In these patients, rectal bleeding is likely to occur later when the disease is more advanced.”

Patients with PJS often present with dense lip freckling. These patients tend to develop more polyps in the small intestine and may be at higher risk for intussusception, an emergent complication in which the bowel telescopes into itself and causes a blockage or obstruction.

In most cases, JPS and PJS can be managed with routine endoscopy and colonoscopy with polypectomy as indicated. Patients with FAP almost always require a colectomy at some point, with a near 100% risk of progressing into cancer.

Rare in a general GI practice

Most gastroenterologists will see only a handful of HPS patients in their careers, says Dr. Kurowski, adding that isolated juvenile polyps are more common. However, Cleveland Clinic is a major referral center for HPS, houses the largest patient registry in the country, and is one of the few centers in the U.S. to offer an HPS fellowship.

Dr. Kurowski first became familiar with HPS during his residency at Cleveland Clinic. His national involvement in the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition made him aware of differences in referral patterns and management in these patients.

Along with his colleagues, Dr. Kurowski designed and disseminated a national survey, completed by 150 gastroenterologists and 129 surgeons. He summarizes the key findings below and offers immediate steps for achieving more evidence-based, consistent HPS care.

Follow society guidelines

Many gastroenterologists reported using guidelines from the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition, while many surgeons preferred the National Comprehensive Cancer Network guideline.

“Adhering to any updated HPS guideline is the most important thing you can do,” he emphasizes.

Around 20% of survey respondents admitted to relying on training and experience. He recommends following one that you can easily access and feel comfortable implementing.

Avoid genetic testing until endoscopic screening.

In cases of a known family history, it’s generally recommended to delay genetic testing until endoscopic screening, which should occur around age 10.

Despite this, 34% of gastroenterologists reported referring patients for genetic testing at birth or after the first clinic visit.

“There are no interventional options available to young children. We must balance this with the potentially unintended consequences of testing too early, which can induce more anxiety and stress,” explains Dr. Kurowski. “The genetics literature supports this as well.”

Genetic testing is nuanced, and there are always exceptions, he says. But, overall, the goal is to defer testing until options are available.

Know when to refer for colectomy.

Treating classic FAP will require a colectomy at some point. “It’s not a matter of if—it’s when,” says Dr. Kurowski.

Most gastroenterologists (78%) reported that high-grade dysplasia was the most important factor when deciding to refer patients for a colectomy. However, the conventional threshold for referral, polyps in the order of “too many to count,” invites subjectivity into practice.

He says a good rule of thumb for colectomy referral is when a “carpeting of polyps” is observed in the thousands, not the hundreds. According to the report, 31% of gastroenterologists referred patients with fewer than 50 polyps. In this lower range, he says, surveillance is recommended, given there are no other concerning features.

…and the ideal age for referral.

When possible, it’s better to avoid colectomy until after adolescence.

“Age directly impacts psychosocial and clinical outcomes. Our goal is to get the patients as old as possible before surgery,” says Dr. Kurowski. Cleveland Clinic’s average age of colectomy is around 18 to 20, although some estimates in the literature suggest the national average is closer to 15 years.

The topic of age-related candidacy for surgery is hotly debated within the field, and waiting until the patient is old enough to share in the decision and allowing them to grow, physically and mentally, is always best. Dr. Kurowski emphasizes that most patients will not require surgery until after puberty, though exceptions occur.

Document polyps and personalize surgical decision-making (when possible)

Ileal pouch-anal anastomosis (IPAA/J-pouch) is the standard of care surgery for FAP. However, a rectum-sparing approach, known as the ileal rectal anastomosis (IRA), is achievable in certain patients and can improve bowel function and quality-of-life outcomes, such as obviating the need for a stoma.

Part of IPAA or IRA clinical decision-making is related to the number of polyps in the patient’s rectum, explains Dr. Kurowoski. Those with fewer than 20 polyps in the rectum are generally good candidates for IRA.

However, only 43% of survey respondents consistently reported the number of polyps in the rectum, specifically, compared to the rest of the colon. “This doesn't necessarily tell you what's in the last part of the colon, and that could be a huge decision point for what kind of surgery a patient needs,” he says.

The final word: More awareness and education

Dr. Kurowski says that, despite some gaps in HPS management, the report also highlights many reassuring practice patterns.

Ultimately, he says, “These are rare and often quite heterogeneous diseases; we need to work on improving education and continuing medical education within pediatric gastroenterology and surgery communities.”