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

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.

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 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.