The burden of familial chylomicronemia syndrome from the patients’ perspective

ABSTRACT

Background: Familial chylomicronemia syndrome (FCS) is a rare, inherited lipid disorder characterized by high levels of plasma triglycerides and chylomicrons, which may cause life-threatening acute pancreatitis. Currently no FDA-approved treatment exists. Management is low-fat diet (<20g fat/day), which is difficult to maintain. With the restricted diet, triglycerides may remain elevated. We conducted discussions with patients and caregivers to better understand the burden of FCS from their perspectives.

Methods: A panel of FCS patients and caregivers was assembled to discuss and assess the clinical and psychosocial burden of FCS.

Results: Ten adults with FCS (median age 48 yr) and their spouses/caregivers were asked specific questions about their experiences living with FCS. Patients with FCS stated their symptoms were abdominal pain, nausea, diarrhea, constipation, bloating, and fatigue. Patients reported a median of 34 episodes of acute pancreatitis over their lifetimes; half of these led to hospitalizations, each with an average stay of 6.5 days. The psychosocial burden of FCS was primarily associated with the restricted diet, anxiety and stress of FCS.

Conclusions: Living with FCS imposes a significant clinical and psychosocial burden on patients and caregivers, who reported reduced quality of life, limited employment opportunities, socialization and increased burden on family.

KEYWORDS:

• Burden of disease
• chylomicronemia
• familial chylomicronemia syndrome
• FCS
• hypertriglyceridemia
• lipoprotein lipase deficiency
• LPLD
• quality of life

Acknowledgments

First and foremost we acknowledge and thank the patients and caregivers who participated in the Chicago Patient Advisory Board meeting. Without their contributions this publication would not be possible. We appreciate the participation of Joyce Ross from the National Lipid Association and Tricia Mullins (formerly of Global Genes) for their attendance and contribution to the patient meeting. We thank Kim Clark (Akcea Therapeutics) for writing the cases.

Writing support was provided by Andrea Gwosdow, Ph.D. of Gwosdow Associates Science Consultants, LLC and Joe Melton, who was employed by Med Val. All writing support was funded by Akcea Therapeutics.

The Chicago Patient Advisory Board meeting was funded by Akcea Therapeutics. Patients and caregivers were not paid to attend the Chicago Patient Advisory Board meeting; travel expenses for patients and caregivers were provided by Akcea Therapeutics.

Declaration of interest

A Brown has received Speaker Honoraria from Amgen, Merck, Regeneron, and Sanofi, been on the Advisory Board for Akcea, Amgen, Astra Zeneca, Kowa, Merck, Pfizer, Regeneron, Sanofi, and received a modest honorarium for participating in the faculty panel discussion at the Chicago Patient Advisory Board. A Gelrud received honorarium for consulting and speaker fees from AbbVie and Akcea Therapeutics. He also has received a research grant from Dompe and royalties from UpToDate, and he received a modest honorarium for participating in the faculty panel discussion at the Chicago Patient Advisory Board. A Gilstrap, A Hsieh and K Williams are employees of Akcea Therapeutics. A Gwosdow is a medical writer who received payment from Akcea Therapeutics. 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.

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Additional information

Funding

This article was funded by Akcea Therapeutics.