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Survey Results Confirm Difficulty of Living with Familial chylomicronemia syndrome (FCS)

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Friday, October 20, 2017

In the September 11 issue of the Expert Review of Cardiovascular Therapy, new data was published from a study titled “The burden of familial chylomicronemia syndrome (FCS) from the patients’ perspective.”

In the study, Andres Gelrud, MD, of the University of Chicago School of Medicine and colleagues and colleagues queried 10 patients with FCS and their primary caretakers about the struggles that are associated with living with the condition. Rare Disease Report spoke with Dr Alan Brown; Director of the Lipid Clinic and Chief of Cardiology at Advocate Lutheran General Hospital in Park Ridge, Illinois and President Elect of the National Lipid Association.

Brown served as one of the survey’s moderators, and was once the primary physician for one of the subjects of the study. In the Q&A below, he tells RDR about FCS as a disease state, the negative effects experienced by patients, and the potential for a therapy coming through the pipeline.

“These patients have very little opportunity for treatment, and are required to keep a no-fat diet, which is very difficult. I knew that there was an investigational therapy underway, and I wanted to hear what the patients had to say and consider the utility of the new therapy,” Brown said.

Familial chylomicronemia syndrome occurs in about 1 in a million people. It’s an autosomal recessive disorder, so both parents have to carry the gene and only 1 in 4 of the children will manifest with the disease. The carriers – the parents – often have a milder hypertriglyceridemia. They have a little bit of this lipedema, but they don’t have all the qualities of the people who get the full-blown disorder have, such as recurrent pancreatitis.

The disorder is caused by a mutation in one of several potential proteins that are necessary in the gene for the body’s normal metabolism of triglycerides. In particular, chylomicrons which are particles with a tremendous amount of triglycerides in them, are made primarily in the gut from dietary fat and get dumped into the blood stream. Right after you eat a meal, these particles will raise your triglycerides quite a bit in the serum, but then when those chylomicrons get into the capillary, the muscles and the peripheral tissue, the triglycerides are broken down into fatty acids which are used for energy by the muscles. The classic FCS patient has a mutation that causes the lipophilic protein not to work.
Author: Mathew Shanley
Source: University of Chicago School of Medicine
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