Jacob Kurowski, MD<\/a>, a pediatric gastroenterologist at Cleveland Clinic and first author of the report.<\/p>\nEach 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.<\/p>\n
\u201cThe polyps for JPS and PJS are much larger and vascular, and so those are more likely to present with bleeding,\u201d says Dr. Kurowski, \u201cwhereas 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.\u201d<\/p>\n
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.<\/p>\n
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.<\/p>\n
Rare in a general GI practice<\/p>\n
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.<\/p>\n
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.<\/p>\n
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.<\/p>\n
Follow society guidelines<\/p>\n
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.<\/p>\n
\u201cAdhering to any updated HPS guideline is the most important thing you can do,\u201d he emphasizes.<\/p>\n
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.<\/p>\n
Avoid genetic testing until endoscopic screening. <\/p>\n
In cases of a known family history, it\u2019s generally recommended to delay genetic testing until endoscopic screening, which should occur around age 10.<\/p>\n
Despite this, 34% of gastroenterologists reported referring patients for genetic testing at birth or after the first clinic visit.<\/p>\n
\u201cThere 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,\u201d explains Dr. Kurowski. \u201cThe genetics literature supports this as well.\u201d<\/p>\n
Genetic testing is nuanced, and there are always exceptions, he says. But, overall, the goal is to defer testing until options are available.<\/p>\n
Know when to refer for colectomy.<\/p>\n
Treating classic FAP will require a colectomy at some point. \u201cIt\u2019s not a matter of if\u2014it\u2019s when,\u201d says Dr. Kurowski.<\/p>\n
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 \u201ctoo many to count,\u201d invites subjectivity into practice.<\/p>\n
He says a good rule of thumb for colectomy referral is when a \u201ccarpeting of polyps\u201d 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.<\/p>\n
\u2026and the ideal age for referral. <\/p>\n
When possible, it\u2019s better to avoid colectomy until after adolescence.<\/p>\n
\u201cAge directly impacts psychosocial and clinical outcomes. Our goal is to get the patients as old as possible before surgery,\u201d says Dr. Kurowski. Cleveland Clinic\u2019s average age of colectomy is around 18 to 20, although some estimates in the literature suggest the national average is closer to 15 years.<\/p>\n
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.<\/p>\n
Document polyps and personalize surgical decision-making (when possible)<\/p>\n
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.<\/p>\n
Part of IPAA or IRA clinical decision-making is related to the number of polyps in the patient\u2019s rectum, explains Dr. Kurowoski. Those with fewer than 20 polyps in the rectum are generally good candidates for IRA.<\/p>\n
However, only 43% of survey respondents consistently reported the number of polyps in the rectum, specifically, compared to the rest of the colon. \u201cThis 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,\u201d he says.<\/p>\n
The final word: More awareness and education<\/p>\n
Dr. Kurowski says that, despite some gaps in HPS management, the report also highlights many reassuring practice patterns.<\/p>\n
Ultimately, he says, \u201cThese are rare and often quite heterogeneous diseases; we need to work on improving education and continuing medical education within pediatric gastroenterology and surgery communities.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"The results of a recent survey suggest a divergence in practice patterns among specialists who treat pediatric patients…\n","protected":false},"author":2,"featured_media":401263,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[163,85,46],"class_list":{"0":"post-401262","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-health","8":"tag-health","9":"tag-il","10":"tag-israel"},"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/posts\/401262","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/comments?post=401262"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/posts\/401262\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/media\/401263"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/media?parent=401262"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/categories?post=401262"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/tags?post=401262"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}