Newly Published Data Characterizes the Burden of Disease in Patients with Familial Chylomicronemia Syndrome

— Largest Survey in Patients with Familial Chylomicronemia Syndrome (FCS)

Results Demonstrate the Considerable Daily and Life-long Burden of Disease for Patients with FCS

Results from an interim analysis of the largest survey in patients with familial chylomicronemia syndrome were recently published in Expert Review of Cardiovascular Therapy. The IN-FOCUS (Investigation of Findings and Observations Captured in Burden of Illness Survey in FCS Patients) survey was designed to capture and characterize the burden of FCS from the patient’s perspective.

FCS is a severe, rare and genetic disease characterized by persistent extremely high serum triglycerides. The disease is caused by a deficiency in the production or functionality of lipoprotein lipase (LPL), the enzyme that breaks down plasma triglycerides. Patients with FCS typically present with multiple symptoms as a result of their extremely high triglyceride levels, including daily or weekly episodes of abdominal pain, nausea and vomiting; neurocognitive effects, such as brain fog, forgetfulness and difficulty concentrating.  Most critically, patients with FCS are at constant risk of suffering a life-threatening pancreatitis attack, which usually results in hospitalization and can often be recurring.  In addition, patients may develop pancreatic insufficiencies – both exocrine and endocrine – with the attendant complications.  There are currently no approved medications for FCS, leaving patients to manage their disease through a highly restrictive, ultra low-fat diet that requires less than 15g of fat per day and abstinence from alcohol. However, even with strict adherence, diet is rarely enough to mitigate the risk of pancreatitis in these patients.

While the physical symptoms and burden are fairly well characterized, there is little data that characterizes other burden domains, such as psychosocial and cognitive, and how these burdens may translate into impairments in activities of daily living and employment. The newly published interim results from the IN-FOCUS survey, captures these burdens using an online survey to enable this characterization from the patient’s perspective.

The interim analysis included sixty patients with FCS in the U.S. who responded to the IN-FOCUS survey as of the interim analysis cut off date. This interim analysis was part of a larger data set with 160 patient responses to date, making this the largest survey in this patient population, and one of the first to capture the holistic burden of the disease.

Key findings from the survey included:

  • Age: The majority of respondents were between 20 and 40 years of age, with an average age of 36.
  • Diagnosis: Respondents saw an average of five physicians (range: 1-30) before receiving a diagnosis of FCS.
  • Symptoms: All of the symptoms described below occurred daily to several times per week and were moderate to very severe in magnitude.
    • Physical symptoms: generalized abdominal pain, bloating, indigestion and lack of appetite as well as generalized weakness and fatigue.
    • Emotional symptoms: anxiety about their overall health due to FCS, constant uncertainty about having an attack of pain or acute pancreatitis at any time, embarrassment about always thinking about and planning for food and anxiety about eating food prepared by someone else.
      • 22% of patients reported feeling depressed, as compared to a 6.7% rate of depression diagnosis in the general adult U.S. population.
      • 33% of patients reported constant anxiety, fear or worry about having an attack of pain or acute pancreatitis at any time.
    • Cognitive symptoms: Difficulty concentrating, “brain fog” (i.e. lack of thought clarity), impaired judgment, forgetfulness and recent memory loss.
  • Acute Pancreatitis: Lifetime number of pancreatitis attacks ranged from 1-31+, with a mean of 12. Additionally, over their lifetimes, 40% of those hospitalized for acute pancreatitis were readmitted within 30 days of their discharge.
  • Diet: The average fat intake of respondents was 20-21g/day. 87% of the respondents noted that managing their diet was extremely challenging.
  • Employment: Only 22% of patients reported full time employment and 20% were unemployed.
  • Absences: Time off from work due to FCS ranged from 0-61+ days with a mean of 30 days in the past 12 months, compared with the U.S. Bureau of Labor Statistics reported average absence of four to five days per calendar year.

Taken together, results from the IN-FOCUS survey demonstrate the considerable burden of patients with FCS and the impact the disease has on their activities of daily living and employment.


The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study. Davidson M, Stevenson M, Hsieh A, Ahmad Z, Crowson C, Witztum JL. Expert Rev Cardiovasc Ther. 2017 Mar 24. doi: 10.1080/14779072.2017.1311786. [Epub ahead of print]

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