The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study
Open accessAbstract
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.
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Acute pancreatitis was reported by 42% of patients with FCS, making it the most common and potentially severe comorbidity.
“Acute pancreatitis was reported by 42% of patients with FCS, making it the most common and potentially severe comorbidity.13”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [13]
A lack of familiarity with FCS among health care providers may be one reason patients with FCS report visiting at least 5 physicians (range 1-30) before receiving a diagnosis of FCS.
“A lack of familiarity with FCS among health care providers may be one reason patients with FCS report visiting at least 5 physicians (range 1-30) before receiving a diagnosis of FCS. 13”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [13]
Other symptoms of FCS are recurrent pancreatitis, severe abdominal pain ranging from mild to incapacitating (with or without pancreatitis), hepatosplenomegaly, lipemic plasma, eruptive xanthomas, lipemia retinalis, and decreased quality of life.
“Other symptoms of FCS are recurrent pancreatitis, severe abdominal pain ranging from mild to incapacitating (with or without pancreatitis), hepatosplenomegaly, lipemic plasma, eruptive xanthomas, lipemia retinalis, 1,14,15 and decreased quality of life.13”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [13]
The limitations imposed by the very-low-fat diet may negatively impact the overall quality of life and psychosocial well-being of patients with FCS.
“As health care providers, it is important to remember we are treating individuals and asking them to follow a restrictive diet, and the limitations the diet imposes may negatively impact their overall quality of life and psychosocial well-being.13”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [13]
Other patients with FCS have reported reduced quality of life due to anxiety, fear, and worry about food and eating, symptoms, and overall health due to FCS.
“Similar results have been reported by other patients with FCS, including reduced quality of life due to anxiety, fear, and worry about food and eating, symptoms, and overall health due to FCS. 13”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [13]
An interim analysis of patients with FCS showed that only 22% were able to sustain full-time employment.
“An interim analysis of patients with FCS showed that only a small percentage of patients (22%) were able to sustain full-time employment.13”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [13]
Patients with FCS report cognitive symptoms such as impaired memory, difficulty concentrating, fatigue, and weakness.
“Twenty-two percent of FCS patients reported depressive episodes, and other cognitive symptoms such as impaired memory, difficulty concentrating, fatigue, and weakness.”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [13]
Twenty-two percent of patients with FCS reported depressive episodes.
“Twenty-two percent of FCS patients reported depressive episodes, and other cognitive symptoms such as impaired memory, difficulty concentrating, fatigue, and weakness.”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [13]
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- Authors
- Davidson, M., Stevenson, M., Hsieh, A., Ahmad, Z., Crowson, C., & Witztum, J. L.
- Affiliations
- University of Chicago (US)
- The University of Texas Southwestern Medical Center (US)
- University of California San Diego (US)
- Corresponding author
- Stevenson, Michael
- Venue
- Expert Review of Cardiovascular Therapy
- Publisher
- Informa UK Limited
- Published
- 2017-04-04
- Volume
- 15
- Issue
- 5
- Pages
- 415-423
- ISSN
- 1477-9072 (ISSN-L)
- 1744-8344
- OpenAlex
- W2601077308
- Cited by
- 54
- References
- 15
- Citations by year
- 2025: 4 · 2024: 4 · 2023: 5 · 2022: 5 · 2021: 8 · 2020: 6 · 2019: 5 · 2018: 11 · 2017: 5
- FWCI
- 5.78
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Expert Review of Cardiovascular Therapy (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Akcea Therapeutics (N/A)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- familial chylomicronemia syndrome, lipoprotein lipase deficiency, hypertriglyceridemia, chylomicrons, disease burden, quality of life, career choice, delayed diagnosis
- MeSH terms
- Activities of Daily Living, Adult, Chylomicrons, Female, Humans, Hyperlipoproteinemia Type I, Male, Quality of Life, Hypertriglyceridemia, Cost of Illness
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