The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study

ABSTRACT

Background: Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder that is caused by a decrease or an absence of lipoprotein lipase activity. FCS is characterized by marked accumulation of chylomicrons and extreme hypertriglyceridemia, which have major effects on both physical and mental health. To date, there have been no systematic efforts to characterize the impact of chylomicronemia on FCS patients’ lives. In particular, the impact of FCS on the burden of illness (BoI) and quality of life (QoL) has not been fully described in the literature.

Methods: IN-FOCUS was a comprehensive web-based research survey of patients with FCS focused on capturing the BoI and impact on QoL associated with FCS. Sixty patients from the US diagnosed with FCS participated. Patients described multiple symptoms spanning across physical, emotional and cognitive domains.

Results: Patients on average cycled through 5 physicians of varying specialty before being diagnosed with FCS, reflecting a lengthy journey to diagnosis Nearly all respondents indicated that FCS had a major impact on BoI and QoL and significantly influenced their career choice and employment status, and caused significant work loss due to their disease.

Conclusion: FCS imparts a considerable burden across multiple domains with reported impairment on activities of daily living and QoL.

KEYWORDS:

• Familial Chylomicronemia Syndrome
• FCS
• Lipoprotein lipase deficiency
• LPLD
• acute pancreatitis
• burden of illness
• hyperlipoproteinemia

Acknowledgments

The authors would like to recognize and thank the following individuals for their contributions to the design, execution, and analysis of this study:

• Jill Prawer: Patient, Founder and Chair of LPLD Alliance.

• Nandini Hadker and Lachlan Hanbury-Brown, Trinity Partners.

• Maria Bella, MS, RD, CDN, Clinical Nutrition Coordinator, NYU School of Medicine

• Thanks to all other contributors, including, critically, the patients whose voice and feedback have enabled a characterization of holistic burden of FCS.

Declaration of interest

M. Davidson is a scientific advisory board member of Abbott, Amgen, AstraZeneca, Merck and Sanofi, Regeneron. M. Stevenson is an employee of Akcea Therapeutics. A. Hsieh is an employee of Akcea Therapeutics. Z. Ahmad has received research support from the National Institutes of Health, Regeneron and the FH Foundation, and has received honorarium from Amgen and Sanofi, Regeneron. C. Crawson is an employee of Trinity Partners. J. Witztum is a consultant for Ionis, Cymbay, Prometheus and Intercept Pharma. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Additional information

Funding

This study was funded by Akcea Therapeutics, Cambridge, MA, USA.