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.
: What is FCS?
: 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.
: How was the survey conducted?
The survey was conducted by gathering 10 of these very rare patients from around the world. They came in and they brought their significant others or primary caretakers with them, and they were all queried on the things that had the biggest impact on their lives. Additionally, the participants were granted access to experts in the field, and permitted to ask questions to lipidologists and hepatologists and pancreatologists.
: Were there any significant findings from the study, or things learned that might have come as surprising?
: All significant findings pointed to the devastation that the disease has caused among these patients throughout their lives, and also how rarely the disease is even properly diagnosed. Many patients, it seemed, had been living with this disease for years and years before anyone had even diagnosed them. They were sometimes considered to be malingerers or just tired, or in a brain fog all the time. Some even had their gall bladders taken out for abdominal pain. Another significant finding was the difficulty some of these patients had in holding a job because of how frequently they were in the hospital.
: What specific takeaways came from conducting the survey?
: It’s so critical that patients become knowledgeable about this disorder, and one of the things that drew all of these people to become involved in the survey, I think, was the promise that there is work being done on a new therapy that looks very effective.
Gelrud A, Williams KR, Hsieh A, Gwosdow AR, Gilstrap A, Brown A. The burden of familial chylomicronemia syndrome from the patients’ perspective. Expert Review of Cardiovascular Therapy
. 2017;15(11):879-887. doi: 10.1080/14779072.2017.1372