On Friday, Rare Disease Report sat down with Dr Andres Gelrud of the University of Chicago Medical Center at the National Lipid Association Sessions in Philadelphia, PA.
Dr. Gelrud talked about the occurrence of pancreatitis in patients with familial chylomicronemia syndrome (FCS), and how to better manage these patients through education and awareness.
RDR: If you see pancreatitis in a younger patient, what would make you suspect FCS?
Gelrud: We tend to see some patients that are younger without a clear etiology of their pancreatitis, and, you know, frequently they have had a limited workup and, for some reason, one of the workups that we frequently see that they missed to check is triglyceride levels. So, we may be making the diagnosis once the patients have left the hospital and you see triglyceride levels that are over 1,000, so when it comes to familial particularly to familial chylomicronemia syndrome these are patients that will see that they have very elevated triglycerides, younger patients, and then we start therapy, and they don't respond well to therapy, that's when we start to think that they may have this condition, FCS, and that's when we start to do genetic testing and going for the next level of making the diagnosis.
RDR: When something genetic, like FCS, is suspected, who are the doctors consulted?
Gelrud: Every time that we see these patients we see them in our multidisciplinary pancreas clinic, and we have this actually set up for once a day, that you have a clinical pancreatologist like me, and we have endocrine involved, we have nutritionists, we have surgeons - all of us working in the same area so the patients can be seen during one visit. Hypertriglyceridemia is rare so this is not something that we see all the time. When we have a patient with this diagnosis, we get our lipid experts involved and we'll refer the patients to be managed by them. When it’s diagnosed it's been thought you know our lipidologists are the ones that are doing all the genetic testing, and in taking over the hyperlipidemia, you know, a particularly high triglyceride part of the therapy.
RDR: Are college students more susceptible to FCS than others?
Gelrud: If you go to college and you start to drink more, yes, that might trigger pancreatitis because now you have not only your own lack of clearance of triglycerides from whatever diet you are on, but now you're adding alcohol. It's making a lot of triglycerides in your system as well. So basically what this brings up is environmental factors and how much they play a role in triggering pancreatitis. I can tell you that in my clinic, I see them both; younger kids that don't drink and don't smoke, so you know the only risk factor is the high triglycerides. And yes, you also have college kids where you know that they, for the first time they are starting to drink or they're going to parties and then they drink more than usual, and that triggers an episode of pancreatitis. So, you see them in both you know flavors and colors, if you want to call it that way.
RDR: Are there any other rare conditions associated with pancreatitis?
Gelrud: In this meeting, we're talking about a familial chylomicronemia syndrome, FCS, but in my clinic, I do see a lot of patients - also younger, middle-aged - that have genetic mutations not associated to high triglycerides that lead to recurrent acute and chronic pancreatitis. So, unfortunately, particularly the middle-age like you were asking before, that may be in college, they start to develop pancreatitis for whatever reason and they go to the emergency departments and they're being stamped with a diagnosis of a narcotic-seeker or alcoholic. So, when in reality, you know they have a genetic condition that it's bringing the threshold for the pancreatitis to occur really, really low and that's why they have pancreatitis. So, long answer short, you know when it comes to genes and etiology for pancreatitis from a genetic mutation, a genetic predisposition –there are rare conditions, but we're seeing them more and more and more, and, in my clinic, we have a dedicated pancreas clinic, we see a lot of these patients that are being diagnosed with genetic pancreatitis - no longer idiopathic, no longer alcoholic, because they don't even drink and it's interesting because the incidence as we're learning more, is going up and up and up.
RDR: Why is communication between FCS patients and their caregivers so important?
Gelrud: You know, I think it's important for the caregivers to explain to the patient, you know, what the condition that they have, and the implications; particularly the younger ones that you know they're being stamped again with the diagnosis of alcoholism or "binge drinker." It's not a bad idea to give them a copy of your clinic visit just to have some type of formal documentation, you know, that says, ‘you have a rare condition that is triggering your pain and your visit to the emergency department.’ It's not that you're looking for narcotics. The other thing is that we have to tell the patients that there are some websites out there that they can look for more information and learn more about it. Like The FCS Foundation that just created a new website, or the National Pancreas Foundation that also has a website. There's plenty of information there that can be of great help for the patients and their family members.