Feb 29, 2024
Description:
Co-host Ryan Piansky, a graduate student and patient
advocate living with eosinophilic esophagitis (EoE) and
eosinophilic asthma, and co-host Mary Jo Strobel, APFED’s Executive
Director, speak with Dr. Kathryn Peterson, MD, MSCI, a Professor of
Gastroenterology at the University of Utah Health.
In this episode, Ryan and Mary Jo interview Dr. Peterson about the
family risk of eosinophilic gastrointestinal diseases, discussing
the studies she has done, future work she is planning, and other
studies of related topics. She shares that she is a parent to a
patient living with an eosinophilic disorder. She hints at future
research that may lead to easier diagnosis of EGIDs.
Listen in for more information on Dr. Peterson’s
work.
Disclaimer: The information provided in this podcast is designed to support, not replace the relationship that exists between listeners and their healthcare providers. Opinions, information, and recommendations shared in this podcast are not a substitute for medical advice. Decisions related to medical care should be made with your healthcare provider. Opinions and views of guests and co-hosts are their own.
Key Takeaways:
[:49] Ryan Piansky welcomes co-host Mary Jo Strobel. Mary Jo introduces Dr. Kathryn Peterson, a Professor of Gastroenterology at the University of Utah Health. Dr. Peterson specializes in diagnosing and treating diseases of the digestive system including eosinophilic esophagitis (EoE), Barrett’s esophagus, and inflammatory bowel disease.
[2:00] Dr. Peterson works at the University of Utah in Salt Lake City. She co-directs an eosinophilic gastrointestinal disease clinic with Dr. Amiko Uchida. They also work closely with allergy, nutrition, and pharmacy in the clinic and are looking for additional ancillary services to come into the clinic.
[2:27] Dr. Peterson takes care of all sorts of eosinophilic gastrointestinal diseases. She works closely with Dr. Gerald Gleich, as well. Dr. Peterson is a mother of a boy living with eosinophilic disease for 10 years, so she experiences both sides of eosinophilic diseases. She loves her job.
[3:23] Familial risk refers to the risk of the disease in a patient when a family member is affected, compared to the general population. Looking at a proband (patient), is a first-degree family member (parent, sibling, or child) also affected with eosinophilic disease? Is a second-degree family member (grandparent) affected? Are cousins?
[3:58] Dr. Peterson’s is trying to see if and how far out the risk for the disease goes within a family. Based on that, you can get an idea if some shared genes are involved, vs. shared environmental influence of the disease within family members. That’s the idea of doing family risk studies in complex diseases; eosinophilic diseases are very complex.
[4:44] Dr. Peterson explains how she conducts a family risk study in Utah. The Utah Population Database is very helpful. The University of Utah has partnered with The Church of Jesus Christ of Latter-day Saints for large genealogical pedigrees that allow tracking disease through expanded pedigrees, with privacy and security limitations.
[5:24] It’s necessary to clarify physician coding to make sure it’s realistic and coded appropriately so that results are believable. It’s very hard to recruit family members. Dr. Peterson feels extremely blessed to live in that area. The families are generous and giving. She also believes all eosinophilic families are generous.
[6:34] The farther out you can identify the risk for disease, the more likely you will find a common gene that could be implicated in disease risk or onset. If the disease is tracked in extended relatives, it implies a shared gene more than a shared environmental risk. If the disease is isolated within nuclear families, it may indicate an environmental risk.
[7:39] In doing familial research, Dr. Peterson is trying to develop a risk score. People are getting pretty good at diagnosing EoE, but Dr. Peterson would not say that the non-EoE EGIDs are well-established or well-diagnosed. They are missed commonly and often. To have a risk score from the extent of the disease in a family is helpful.
[8:12] Dr. Peterson notes that studies of cancer risk in extended families have established cancer risk scores and related screening that is needed.
[8:43] Dr. Peterson coauthored a paper in November 2020 about the familial risk of EoE, published in the Clinical Gastroenterology and Hepatology Journal. She and her colleagues looked at nuclear families. They were looking for how many members of the nuclear family of an EoE patient have esophageal eosinophilia.
[9:28] They used a questionnaire on allergies, food allergies, and
symptoms. They pulled in around 70 first-degree family members and
scoped them for eosinophilia, pulled the records on the rest of the
family members if they had been scoped, and assessed the risk for
eosinophilia.
[9:51] Including the records, and assuming that everyone who hadn’t had an endoscopy was negative, they found the risk for esophageal eosinophilia in first-degree family members was 14%, bordering on the familial risk for celiac disease. It’s probably higher since they assumed anyone who hadn’t been scoped didn’t have eosinophilia.
[10:19] They called it esophageal eosinophilia, because the guidelines for diagnosing EoE suggest that the patient must complain of symptoms, and these family members did not have symptoms. It was interesting to find this high prevalence of eosinophilia in the nuclear family members of EoE patients. They had a higher risk of allergy, as well.
[11:14] Dr. Peterson explains the differences between esophageal eosinophilia and eosinophilic esophagitis (EoE). Esophageal eosinophilia means eosinophils are in the esophagus, >15 per high-power field in a biopsy. That could qualify as EoE when you go through the criteria of symptoms.
[12:19] We call it esophageal eosinophilia while we rule out everything else that could cause that cell to get recruited into the esophagus. It could be an allergic reaction to a medication, larger eosinophilic disorders, or parasitic infections. Esophageal eosinophilia means you had that initial biopsy that puts you at risk for EoE.
[13:06] You have to go down the diagnostic steps: Do I have symptoms? Do I have anything else that explains it? If you have nothing else that explains the eosinophils, and you have esophageal dysfunction, then you can call it EoE.
[13:33] Dr. Peterson, speaking personally, believes that educating doctors to ask patients about EoE symptoms would be useful in diagnosing EoE. People cope. You don’t want to focus on your symptoms because you want to be able to focus on your life. If symptoms aren’t brought to a doctor’s attention, a diagnosis can get missed.
[16:47] Dr. Peterson discusses risks for EoE in families where allergies are present. Dr. Peterson is involved currently in another familial study to find more information about the risk of EoE where there are allergies in a family. In the preliminary data, it looks like there is a link with asthma. Asthma and EoE in a family seem to track together.
[17:31] The risk of EoE seems to be higher with additional allergies within a family. Dr. Peterson says they are cleaning up the data to get a better answer. It appears that allergies in general go along with some of the genes that have been identified in EoE. Watch for Dr. Peterson’s papers going forward!
[19:05] They looked at around 300 eosinophilic gastroenteritis (EGE) patients and about 170 eosinophilic colitis (EoC) patients. If you have a proband with EoE, is there a higher family risk of having EGE or EoC? It looks like EoE puts you at higher risk of these other conditions. But with such low numbers in the study, the jury is still out.
[20:37] They looked at EGE codes because there is a subset of patients who have eosinophilic disease in their stomach and small bowel who don’t have EoE. They found that in patients who have eosinophilic disease in the stomach or the small bowel, EoE is still commonly seen throughout families. EoE seems to be a common theme.
[21:54] Down the road, Dr. Peterson hopes to be able to identify enough families that they might be able to start looking at genes that might put people at risk for more extensive disease.
[23:07] Dr. Peterson discusses the difficulty in diagnosing eosinophilic colitis, inflammatory bowel disorder, and other disorders. Having eosinophils does not categorize you as an EGID patient. There are other disorders where eosinophils are present. We need a better understanding of eosinophilic colitis.
[25:21] Eosinophilic asthma and eosinophilic fasciitis are disorders that Dr. Peterson has not studied but are in the Institutional Review Board approved documentation for future study.
[26:18] Dr. Peterson addresses whether your degree of risk for an EGID increases if you have an immediate family member with an EGID, vs. a second cousin with an EGID. She would say yes, based on the hazard ratios in the data and knowing that eosinophilic disorders are complex and twin studies show an environmental influence.
[27:28] Dr. Peterson asks patients about their family history, especially when they have other symptoms besides EoE. It makes her more aware of what to test.
[29:10] A paper Dr. Peterson is about to submit studied family members who weren't affected, who were siblings of probands. Their mucosa wasn’t entirely normal. They may be pre-diagnostic. These are patients who need to be followed. There may be things that set people up for the development of this disease, in the right environment.
[31:04] Something fascinating from the familial study is the challenge of diagnosing EGIDs. Fifty percent of the people they brought in hadn’t had an endoscopy. We need to be proactive in identifying diseases in patients. In the study, there are a lot of general GI symptoms coded that Dr. Peterson wonders if they may be missed EGIDs.
[32:34] The NIH gave Dr. Peterson’s team funding and they were able to do linkage analysis on several de-identified families that were at high risk for EGIDs. It looks like multiple genes have the potential to be involved. Personalizing medicine would be applicable if there were just one specific gene involved.
[33:23] Down the road, we may find some genes that portend higher risk and other genes that portend risk where we can do preventative environmental care. We can develop risk scores to identify risks and point to interventions.
[34:10] Mary Jo thanks Dr. Peterson for joining us today to share her expertise and help us learn and understand.
[34:36] Future research needs to be done where we are able to recruit patients and do more work looking at genetic linkage and get to the point where we can diagnose and identify non-EoE EGIDs well enough to explore them more, including eosinophilic colitis. Defining those diseases is necessary and needed.
[35:16] A lot of what Dr. Peterson is trying to do is to look further into combined diseases and hypereosinophilic states to determine if there is some gene within families that may help her to develop other therapies not focusing only on the GI tract but on a global approach to health for these patients.
[35:48] There is current research being done to find less invasive ways of identifying disease, such as imaging, so people don’t have to undergo endoscopy. That research is being done on the commercial side.
[36:44] Dr. Peterson has been looking at food-specific antibodies. Also, research by other doctors is being done to identify other markers of the foods that often trigger the disease. There has been some interesting preliminary data. This can help patients to eliminate fewer foods.
[37:27] Dr. Peterson has been looking at less invasive ways to identify non-EoE EGIDs in ways that can avoid biopsy.
[38:04] What’s being done to study Barrett’s esophagus? Dr. Peterson speaks of past and planned research, using the Utah population database. They looked at the risk for Barrett’s esophagus in patients with EoE and it was eight times higher than the normal population. Dr. Peterson correlates risks with reflux for Barrett’s and EoE.
[39:26] There are still questions about which comes first, EoE, Barret’s esophagus, or reflux. She also talks about the relationship between achalasia, allergic diseases, and EoE.
[41:05] To learn more about Dr. Peterson’s research, please see the links in the show notes. To learn more about eosinophilic gastrointestinal disorders, please visit apfed.org/egids.
[41:29] To find a specialist, visit apfed.org/specialists. To connect with others impacted by eosinophilic diseases, please join APFED’s online community on the Inspire Network at apfed.org/connections.
[41:48] Ryan and Mary Jo thank Dr. Kathryn Peterson again for joining them. Mary Jo thanks APFED’s education partners, linked below, for supporting this episode.
Mentioned in This Episode:
Pubmed.ncbi.nlm.nih.gov/36148824/ (to release February 2024)
Pubmed.ncbi.nlm.nih.gov/33221551/ (published November 2020)
American Partnership for Eosinophilic Disorders (APFED)
APFED on YouTube, Twitter, Facebook, Pinterest, Instagram
Real Talk: Eosinophilic Diseases Podcast
Education Partners: This episode of APFED’s podcast is brought to you thanks to the support of AstraZeneca, Bristol Myers Squibb, Sanofi, and Regeneron.
Tweetables:
“When we study familial risk, we’re looking at the risk of the disease in a patient when a family member is affected, compared to the general population.” — Dr. Kathryn Peterson
“I think allergies, in general, kind of go along with some of the genes that have been identified in EoE.” — Dr. Kathryn Peterson
“Fifty percent of the people we brought in [to this familial risk study] hadn’t had an endoscopy. We need to be proactive in identifying diseases in patients.” — Dr. Kathryn Peterson
About Dr. Kathryn Peterson
Kathryn Peterson, MD is a Professor of Gastroenterology at the University of Utah Health. She is certified by the American Board of Internal Medicine.
Dr. Peterson specializes in diagnosing and treating diseases of the digestive system including eosinophilic esophagitis, Barrett’s esophagus, and inflammatory bowel disease. She completed her medical degree at the University of Texas Southwestern, followed by residency and a fellowship at the University of Utah and a master's program in Epidemiology at Harvard University.
Bio: Healthcare.utah.edu/find-a-doctor/kathryn-peterson
.