Signs, Symptoms and Awareness of FCS with Dr Richard Dunbar
Dr Richard Dunbar
At the 2017 National Lipid Association Sessions in Philadelphia, Dr Richard Dunbar of the University of Pennsylvania sat down with RDR to discuss the signs and symptoms of familial chylomicronemia syndrome, as well as steps that are being taken to raise awareness of it.
RDR: What are some symptoms of FCS that would lead a patient to a physician?
Dunbar: So, FCS – familial chlyomicronemia syndrome – is usually something that presents when people are kids. Often, it's little kids or adolescents that may present with a long series of episodes of abdominal pain. So one of the difficulties is that this is often misdiagnosed and patients may not be diagnosed until much later in life, in fact, and so often, these patients will have other diagnoses that may or may not be correct, and many of them are quite frustrated by the time that they actually do get a diagnosis.
There are also some other manifestations that people sometimes get; they might get a skin condition where they have, essentially, red spots on various parts of the body that often dermatologists end up discovering the diagnosis. And sometimes, there's some other more difficult symptoms to diagnose. If an eye exam is done, there are sometimes some findings that an ophthalmologist may be aware of, but the difficulty with this is its symptoms that are sometimes hard to recognize, and it's more the pattern of the symptoms more than the symptoms themselves that are the tip-off.
Because we often aren't doing triglyceride levels or any kind of lipid levels in children, it's often not found by the typical lab findings either.
RDR: What is the most effective treatment for FCS patients?
Dunbar: So among the treatments, frustratingly, diet is the most effective treatment, and it turns out that most of our medications don't work very well at all. For that reason, a lot of people really may not be well-equipped to guide someone through how difficult this diet is. It's a very low-fat diet and the other thing that's tricky about that is for many conditions that cause triglycerides to be elevated, the type of diet that would work would be a low carb diet.
These patients are different, so a low carb diet could actually make them worse. So for people with true FCS, it's really all about the fat, and so they need to be counseled to have a very low-fat diet. So for example, they would like to have less than 15% of their calories come from fat, and the unfortunate thing is that's a very hard diet to keep up with long term, because it's a very unpalatable diet; many people find that that kind of diet just doesn't taste good. It's just so difficult for patients to do this. As a result of this, it really helps if you can see a physician's office who has a nutritionist, who is well-versed in this and can give them creative ideas to comply with the diet, because at this moment, we don't have a whole lot besides the diet.
RDR: Why should an FCS patient consider a physician or caregiver referral?
Dunbar: It may help to refer to someone who has experience in managing these patients. The other reason to consider referrals is for a slightly different reason: referral centers may be more involved in research that's going on in this area and they may have more access to emerging therapies. So right now, we're in a great position because there are many companies who are developing drugs that will treat this.
Another potential fringe benefit of referral is that the patient might land in an office where they're working with one of the new options and that may give a patient access to novel therapies sooner than they would otherwise get.
RDR: What is being done to raise awareness of FCS?
Dunbar: So there are foundations and patient-support groups that are being put together right now. If you google ‘FCS foundation’ you may find one of those groups. There are also websites that are oriented toward people with rare diseases and they're starting to list FCS. I know that there's talk about developing international registry that could hopefully help us to learn more about the disease. But one thing that patients find very helpful is talking to other patients who have the disease because they have another person that they can compare notes with, another person who can sort of share their emotional burden with, who really understands what they're going through.
This is really critical for patients. I think it gives patients a lot of hope that they can connect with someone who knows really what they're experiencing, and I think that that's a really valuable experience. I'm really glad to see that people are seriously talking about providing resources to make this happen.