Understanding and Managing Familial Chylomicronemia Syndrome - Episode 8
Andres Gelrud, MD: What advice would you have for clinicians, lipidologists, or gastroenterologists, who are the people we see and work with every day, to treat patients with FCS [familial chylomicronemia syndrome]?
Vikesh Singh, MD, MSc: Foremost, you must make the correct diagnosis. If you don’t have the correct diagnosis, then the correct treatment is always going to be elusive. It is probably worth repeating what the diagnostic criteria are for FCS. This a condition that can be diagnosed clinically on the basis of elevated fasting triglycerides, typically greater than 1000 [mg/dL], that are not responsive to standard or conventional hypertriglyceridemic treatments; is typically characterized on a clinical level by either recurrent acute pancreatitis and/or abdominal pain; and an exclusion of a secondary cause of those triglycerides being elevated. Those 4 factors must run in our minds when we think about how to make sure that we’re diagnosing FCS correctly. Unfortunately, most practitioners are not going to have access to genetic testing or have access to test for LPL [lipoprotein lipase] activity. There are some lipid laboratory tests that do that, but most practitioners are just not going to have access to that. Therefore, it’s important to keep in mind that this condition can be diagnosed clinically.
Once you have a diagnosis, the most important thing we can do is to counsel our patients on the dietary modifications that are so important to keeping triglyceride levels down. Specifically, that entails sticking to a low-fat diet that can be very restrictive, as Darlene mentioned earlier. Patients should not go above the 20 to 30 g of fat a day, which is a very important and tangible thing that patients with FCS can do to make sure that their triglyceride level stays low. Additionally, avoiding simple carbohydrates is important because simple carbohydrates can turn into fat in the body. It is critical to watch your intake of carbs. Finally, patients should stick to either no alcohol, so if you don’t drink then please do not start, or for those who do drink occasionally, drinking on special occasions may be permissible. In total, those are likely 3 tactics that are going to be the most important in combatting FCS.
It is important to note that there is significant research and progress inching slightly closer to developing treatments that are going to be helpful for patients with FCS. We do know that there are some drugs in development that target APO3C [apolipoprotein C3], and we know that they can be effective in reducing triglycerides, even in the short term. I think that the future is bright for some of these treatments being approved by the FDA in the next year or so. Possibly, we may start to see the treatment landscape evolve as a result of these therapies being available for patients with FCS.
Andres Gelrud, MD:: It is important to know that there’s a lot of work being done, and hopefully in the near future we’re going to have a treatment that we’re going to be able to provide to patients like Darlene, which will have a significant impact on quality of life. Many of the restrictions that you have right now, Darlene, hopefully one day you will be able to eat more and enjoy more of the things that you have done throughout your life.
From your personal experience, what advice would you give to the caregivers of patients who have this condition? We just heard that the primary treatment is a restrictive diet. What recommendations do you have for people taking care of children?
Darlene Voll: I talk about this often because I was never raised as if it was an issue, it was treated as something I had to deal with. It was never a problem. My parents were great at doing things that now seem kind of silly, but they always would make it so that I would get something extra since I didn’t get what everyone else received, which is a little backward, but it worked for me. I was a happy kid, and I never realized that I couldn’t be like everyone else until I became a teenager and you’re off on your own.
As a young child during Easter, my brother and sister, who do not have FCS, would get big chocolate rabbits in their baskets, which I could not have. I couldn’t have any chocolate. To compensate, my dad would get a pineapple because, perhaps it was big? He would make a big deal on Easter morning about cutting up the pineapple, and I got to share it with everyone. In retrospect, it was a pineapple, but as a kid it made Easter an event where I got something extra, so I felt like I wasn’t missing out on what everyone else had. It changes your perspective if you concentrate on the positive and make that child feel a little special, and it changes their outlook and makes it a little easier for them to follow the restrictive diet.
Transcript Edited for Clarity