Daniel Rader, MD Talks About What's New in FCS Research
Daniel Rader, MD
Rare Disease Report speaks with Dr Daniel Rader of the Perelman School of Medicine University of Pennsylvania about what's new in FCS in terms of trials and studies, and also what doctors can do to raise awareness of the rare disease at the National Lipid Association Sessions.
RDR: What are a few clinical signs of FCS?
Rader: So when someone presents with acute pancreatitis in a hospital setting, very high triglycerides consistent with familial chylomicronemia syndrome is something that really should always be on the differential. Of course there are other causes of pancreatitis, but that's something that doctors ought to consider. And then, if they notice that the blood happens to be sort of creamy-looking, that's often the trigger, the sign, that this is a condition of FCS that really requires management of the triglycerides. There are other signs, sometimes in the eyes, lipemia retinalis, that can be a clue, but really, nowadays, it's the look of the blood and then, ultimately, the measurement of the triglycerides that really tips it off.
RDR: Have there been any new findings regarding FCS?
Rader: Yeah, I mean one of the exciting things about FCS is the new therapies that are in development. And it's really exciting. There's a therapy that targets a protein called APOC-3, and by inhibiting the production of that protein, actually data now show very clearly that patients with FCS have quite remarkable reductions in triglycerides. A recent study - large study - basically showed that there was a 77% reduction in triglycerides, and suggests that there was real reduction in pancreatitis, so that's one. There's another protein called ANGPTL3 that, when you inhibit that, the data are suggesting that that may be another approach to treating FCS. So, it's exciting times for treatment of this disorder. We're hoping that over the next few years, we're actually going to have new therapies that we can really use for our patients with this condition.
RDR: What are your thoughts on the current state of FCS awareness?
Rader: Well, there's no question that not enough patients or doctors know about FCS, and we know that there are patients out there who haven't been appropriately diagnosed and appropriately treated. So, there is a need for more information and there's, I think, a desire to try to figure out how we can get more information out to patients and doctors. There's also, by the way, a real need for
a good global registry of patients with FCS. It is a rare condition, and because it's rare, we need to really try to gather as many patients as we can, and really track them over time to have a better understanding of the natural history, and also be able to get information to these people when new therapies do come along, or there are new clinical trials that they might be eligible for.