Overcoming Obstacles: Expert Perspectives on the Diagnosis and Management of Familial Chylomicronemia Syndrome

This activity is part of a series


Robert A. Hegele, MD, FRCPC, FACP
Professor of Medicine and Staff Endocrinologist
Schulich School of Medicine
Western University
London, Ontario, Canada
Robert A. Hegele, MD, FRCPC, FACP

Rob Hegele, MD, FRCPC, FACP, is a Distinguished Professor of Medicine and Biochemistry at Western University in London, Ontario, Canada. He is a staff endocrinologist who cares for > 2500 patients at the lipid clinic. His laboratory discovered the causal genes and first pathogenic variants for >20 human diseases, and also developed the world’s first targeted next-generation sequencing panel for dyslipidemias.

Dr. Hegele was among the first in the world to use five medications that are now routinely prescribed to treat dyslipidemia or diabetes. He has published >900 papers and is in the top 1% of highly cited scientists in the world.

Dr. Hegele received the 2019 American Heart Association Lyman Duff Award and the 2020 FH Foundation Pioneer Award. He has co-authored many clinical practice guidelines for cholesterol, blood pressure and diabetes. He has trained numerous physicians, medical students, and graduate students.

Alan Chait, MD
Professor Emeritus
Division of Metabolism, Endocrinology, and Nutrition
Department of Medicine
University of Washington
Seattle, WA
Alan Chait, MD

Alan Chait, MD is Professor Emeritus in the Division of Metabolism, Endocrinology, and Nutrition in the Department of Medicine at the University of Washington in Seattle.  He is the past Head of this Division, past Director of the University of Washington’s Nutrition Obesity Research Center, and past Principal Investigator of a NIH-funded Program Project on Macrovascular Disease in Diabetes.  Dr. Chait has had a long-standing research and clinical interest in Disorders of Lipid Metabolism.

Jeff Wertalik
Patient Presenter
Jeff Wertalik

My name is Jeff Wertalik and I’m 47 years old and have been dealing with extreme hyperlipidemia since about 2005. I come from a family of hearty eaters complete with relatives who LOVE to feed people. It’s the type of environment where food is family. I’m also a larger person genetically as well. I’m a 6’5″ former Division 1 offensive lineman with the frame to match. So, food and I have always had an intimate relationship. Along with a healthy appetite, I was also an average to above average consumer of alcohol. After college and I parted ways (due to injury and depression), I ended up working at a large local liquor store stocking and selling wine, beer, spirits, and gourmet cheeses.

I began to have some blood work issues in 2005. In 2012, I weighed the most I ever had in my life and was living in total excess and experienced had my first episode of pancreatitis. As the pain intensified, I went to the emergency room where blood was drawn and immediately separated before the nurse’s horrified eyes. My triglycerides came back at over 7,000 mg/dL. I was in the ER for 5 days. I started watching my diet, taking the prescribed medicine from a new doctor I began seeing, losing more weight and was on my way to fixing the issue.

For the next 7 years I dealt with five more pancreatitis attacks, a needless gallbladder removal, and multiple dieting trends. I was still being told by doctors that I simply needed to improve my health with little to no direction and even meeting with nutritionists whose advice was “eat less food and more veggies”. I did have some success with extreme dieting (made me miserable) and bloodwork never came close to “normal”.

On April 16th, of 2019 my life was changed forever as I met with my first lipid specialist, Dr James Underberg. He looked at my history, my labs, and my story and knew almost exactly what was going on with my body. He went through and explained all the medical terms, genetics, issues, and the fact that there was little treatment available…. and I could not have been happier. An immense weight was lifted from my shoulders as I finally was able to see that this was not my fault. Yes, I could have done better in my choices, but this deck was stacked against me from the start. One of the biggest changes that I needed to make was alcohol. Dr. Underberg said that he would consider it malpractice to say anything other than I needed to put it all behind me… and I haven’t looked back. It was the easiest decision that I ever made. That’s saying something because, I am still working at the liquor store and am a buyer of domestic wines for the chain.

Over 4 years have passed and I’m still not the perfect patient, but I am constantly working, fighting, and moving forward in this battle against my body. I found some amazing people within the community and am working on helping others find their way through this crazy genetic puzzle. Throughout my life, I’ve always taken solace in the fact that there are others who are facing the same struggles that I am and working through them. So, I’m doing my best to do the same, sharing my story to let others know that there is hope and we can get through this together.

Joseph L. Witztum, MD
Distinguished Professor of Medicine
Division of Endocrinology and Metabolism
University of California, San Diego
San Diego, CA
Joseph L. Witztum, MD

Joseph L. Witztum, MD is a Distinguished Professor of Medicine in the Division of Endocrinology and Metabolism at the University of California, San Diego. For more than 40 years, Dr. Witztum has made major contributions to the field of atherosclerosis. Alongside Dr. Daniel Steinberg, he first described the role of OxLDL in atherogenesis, providing fundamental information on its properties and evidence that it existed in experimental models and humans. He first showed that oxidized low-density lipoprotein (OxLDL) was immunogenic, leading to both adaptive and innate immune responses to what he termed “oxidation-specific epitopes,” which fundamentally contributed to the concept that atherosclerosis was a chronic inflammatory disease.  After discovering the IgM natural antibody E06 that specifically bound and neutralized oxidized phospholipids (OxPL), he and his colleagues have shown the central role of OxPL in mediating inflammation and toxicity in a wide variety of settings.  Using transgenic mice that express the E06 antibody, they have shown that targeting OxPL ameliorates many disease processes, including atherosclerosis, NASH, myocardial ischemia-reperfusion, and osteoporosis.

Dr. Witztum has had a career-long interest in lipoprotein metabolism, and has been actively involved in both basic and clinical studies to develop novel therapies for unmet needs, especially in the context of hypertriglyceridemia and elevated Lp(a) levels. Most recently, he has contributed to the development of antisense therapy targeting apoC-III, Lp(a), and ANGPTL3. His research has resulted in more than 500 manuscripts and has an h-index of 167. Dr. Witztum has been an Editor of major scientific journals for over 35 years,  including being Editor-in-Chief of the Journal of Lipid Research.

Dr. Witztum received his Bachelor’s Degree from Vanderbilt University, his MD from Washington University School of Medicine in St. Louis, and his residency training at Mt. Sinai Hospital in New York City. This was followed by a fellowship and faculty position in Endocrinology and Metabolism at Washington University School of Medicine. He has been at UCSD since 1979.

Statement of Need

Familial chylomicronemia syndrome (FCS) is an autosomal recessive disorder that affects approximately 3,000 – 5,000 individuals worldwide. Though quite rare, this disorder, characterized by elevated chylomicron levels and severe hypertriglyceridemia, presents a significant challenge both for the affected patients as well as the clinicians who are tasked with managing it. FCS is associated with debilitating, and sometimes even fatal, symptoms and associated conditions, including recurrent abdominal pain and acute pancreatitis, as well as a psychological burden related to stringent dietary restrictions. Thus, it is imperative that clinicians have the knowledge required to correctly identify this condition early and implement a guideline-directed management plan in order to improve the patient’s quality of life and clinical outcomes.

In this enduring CME Outfitters Webcast, expert faculty will guide learners through the diagnostic process for FCS, discuss approaches to adhering to stringent dietary guidance, and introduce strategies to effectively implement multidisciplinary management for this condition. They will also detail new and emerging treatment options to help keep all members of the health care team up to date with the latest scientific advances in this field.

Learning Objectives

  • Identify key diagnostic elements of FCS
  • Integrate multidisciplinary approaches that may facilitate adherence to FCS dietary guidelines
  • Assess recent study data evaluating current and emerging FCS pharmacologic therapies

Financial Support

This activity is supported by an educational grant from Ionis Pharmaceuticals, Inc.

Target Audience

Physicians (specializing in endocrinology, lipidology, gastroenterology, cardiology, and primary care, including internal medicine, family medicine, and pediatrics), physician associates (PAs), nurse practitioners (NPs), nurses, pharmacists, and dietitians

Credit Information

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This activity was planned by and for the healthcare team, and learners will receive 1.00 Interprofessional Continuing Education Credit for learning and change.

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Nurses (ANCC) 1.0

This activity is designated for 1.00 contact hours.

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Disclosure Declaration

It is the policy of CME Outfitters, LLC, to ensure independence, balance, objectivity, and scientific rigor and integrity in all of their CE activities. Faculty must disclose to the participants any relationships with commercial companies whose products or devices may be mentioned in faculty presentations, or with the commercial supporter of this CE activity. CME Outfitters, LLC, has evaluated, identified, and mitigated any potential conflicts of interest through a rigorous content validation procedure, use of evidence-based data/research, and a multidisciplinary peer review process.

Dr. Hegele reports the following financial relationships:

Advisory Board: Amgen Inc.; Arrowhead Pharmaceuticals, Inc.; HLS Therapeutics Inc.; Ionis Pharmaceuticals; and Novartis AG

Consultant: Amgen Inc.; Arrowhead Pharmaceuticals, Inc.; Boston Heart Diagnostics Corporation; HLS Therapeutics Inc.; Ionis Pharmaceuticals; Medison Pharma; Medpace; Novartis AG; Pfizer Inc.; and Regeneron Pharmaceuticals. Inc.

Dr. Chait reports the following financial relationships:

Advisory Board: LIB Therapeutics (Data Safety Management Board)

Consultant: Partnership For Health Analysis Research

Mr. Wertalik reports no financial relationships to disclose.

Dr. Witztum reports the following financial relationships:

Consultant: Ionis Pharmaceuticals

Stock Shareholder: Ionis Pharmaceuticals

Other financial or material support:
Patents on oxidation specific antibodies held by UCSD; cofounder of Oxitope and Kleanthi (no monetary value)

Disclosures were obtained from the following peer reviewer and CME Outfitters, LLC, staff, with no disclosures to report:

  • Jeffrey Helfand, DO (peer reviewer)
  • Albert Eubanks, Jr., RN  (peer reviewer)
  • Evan Luberger (planning committee)
  • David Modrak, PhD (planning committee)
  • Susan H. Yarbrough, CHCP (planning committee)
  • Sandra Caballero, PharmD (planning committee)
  • Sharon Tordoff (planning committee)

Faculty of this CE activity may include discussions of products or devices that are not currently labeled for use by the FDA. The faculty have been informed of their responsibility to disclose to the audience if they will be discussing off-label or investigational uses (any uses not approved by the FDA) of products or devices.

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Overcoming Obstacles: Expert Perspectives on the Diagnosis and Management of Familial Chylomicronemia Syndrome
Event Date: 11/15/2023 at 5:00 am EST