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Michael Davidson, MD & The Importance of a Proper FCS Diagnosis

MAY 22, 2017
Michael Davidson, MD


Dr Michael Davidson of the University of Chicago School of Medicine sat down with Rare Disease Report at the 2017 National Lipid Association Sessions in Philadelphia to discuss why a proper diagnosis is so valuable to FCS patients. He also touches on other disorders with similar symptoms, working as a care team, and more.

RDR: What symptoms of FCS should encourage a person to see a physician?
 
Davidson: Abdominal pain, primarily – especially acute pancreatitis. It is very severe and almost always leads to hospitalization. Other things that are kind of less specific are mental fog, confusion, memory impairment, depression, and severe fatigue. Those kinds of symptoms could be FCS, that's not really been diagnosed. I think one of the challenges that these patients face is they go to multiple positions before finally someone comes up with the correct diagnosis.
 
RDR: Can an FCS patient be misdiagnosed because of a different disease with similar symptoms?
 
Davidson: Yes, there's a there's another form of severe hyperglyceridemia, which isn't technically FCS, and it's usually due to secondary causes – diabetes, hypothyroidism, some other medical condition that may have an underlying genetic component to it, but not the true and a monogenic or heterozygous of multiple mutations that lead to the more severe FCS type of condition.
 
RDR: What kind of effort goes into working as a care team for an FCS patient?
 
Davidson: The care team is because lipidologists can make the diagnosis and can deal with the triglyceride elevation with our regiments, but we're not pancreas experts. Often times, there are complications that lead to either chronic pain with the pancreas – recurrent episodes of pancreatitis with inflammation – or even chronic pancreatitis, which needs another whole regimen of different therapies. I think working together with the team can make a huge difference.
 
The other part of the team that's critical is dietitia, because we need to work on extremely low fat diets, and even low carbohydrate diets with low fat diets to maximize the ability for these patients to maintain at lower triglycerides and reduce the risk for pancreatitis.
 
RDR: How detailed does the diet of an FCS patient need to be?
 
Davidson: The most important thing is how low that the fats have to be; it's not just saturated – it’s all fat. So, sometimes people get their mind “saturated fats are bad; I can have olive oil, I can have canola oil, I can have other types of fats, like avocados and things like nuts.” These things are considered healthy fats. In this case, that's not the case. They have to restrict the total fat consumption – all fats, regardless of whether it's saturated or unsaturated fats. Total fat has to be reduced.
 
RDR: Why is a correct diagnosis so valuable to an FCS patient?
 
Davidson: I think there's really two points: one, if you can make the diagnosis correctly, it's a tremendous burden off the patient to know they have a genetic disorder. They've been accused of being alcoholics, and other causes of pancreatitis, and so, for them, it's a very frustrating to have experience and not having a diagnosis made correctly – that's issue number one. The second issue is how poor the quality of life is in general, even in between episodes of pancreatitis, which can be severe and debilitating and require hospitalization.

It can even be fatal; it's how terrible they feel, even in between those episodes of fatigue, malaise, and cognitive impairment. Those things make them really feel awful. It's also the social isolation of not being able to eat things that other people can eat and drink when they have a good time with their friends and colleagues. It all creates a very difficult situation; that's why having social network available to help them understand how to deal with the condition is very valuable.


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