The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study
Open accessAbstract
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia. Patients' burden of illness and quality of life have been poorly addressed in the literature. OBJECTIVE: To understand the ways in which FCS impacts patients' lives. METHODS: Investigation of Findings and Observations Captured in Burden of Illness Survey (IN-FOCUS) was a global web-based survey open to patients with FCS. Survey questions captured information on diagnostic experience, symptoms, comorbidities, disease management, and impact on multiple life dimensions. RESULTS: Of 166 patients in 10 countries, 62% were from the United States and 70% were male. Median age at the time of the survey was 33 years, and median age at diagnosis was 9 years. Patients saw a mean of 5 physicians from different specialties before their FCS diagnosis and experienced multiple physical, emotional, and cognitive symptoms on a daily to monthly basis; 40% were admitted to the hospital in the past year. A lifetime mean of 13 episodes occurred in the 40% of patients with FCS-related acute pancreatitis. Most patients (>90%) found managing fat intake to be difficult, and 53% experienced symptoms despite adherence to their diets. FCS impacted employment status (94%), emotional/mental well-being (58%-66%), and social relationships (68%-82%). CONCLUSIONS: Patients with FCS experience significant clinical and psychosocial burdens that reduce their quality of life and limit employment and social interactions. Increased awareness among healthcare professionals of the multifaceted nature of the FCS disease burden may help expedite diagnosis and timely institution of treatment and broaden management considerations.
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Approximately 85% of patients with familial chylomicronemia syndrome report at least one episode of acute pancreatitis, and 40% have multiple recurrences during their lifetime.
“Approximately 85% of patients with familial chylomicronemia syndrome report at least one episode of acute pancreatitis, and 40% have multiple recurrences during their lifetime. 14”
From Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome (2024) · cites this paper as [14]
The Comorbid conditions section (page not available) reports that 40% of surveyed patients experienced at least one acute pancreatitis episode, not approximately 85%. It gives a mean number of episodes among those patients, but does not say that 40% had multiple lifetime recurrences. (LLM, conf=0.88)
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Experimental — accuracy not yet measuredFamilial chylomicronemia syndrome causes many physical and cognitive complications from sustained chylomicronemia, but recurrent and potentially fatal acute pancreatitis is the most feared complication.
“Although patients with familial chylomicronemia syndrome have many physical and cognitive complications from sustained chylomicronemia, 3,11,28,29 potentially recurrent and even fatal acute pancreatitis is the complication that is most feared.”
From Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome (2019) · cites this paper as [28]
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Cites
Current knowledge of hypertriglyceridemic pancreatitis
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Self-citationThe burden of familial chylomicronemia syndrome from the patients’ perspective
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Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome
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- Authors
- Davidson, M., Stevenson, M., Hsieh, A., Ahmad, Z., Roeters van Lennep, J., 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
- Davidson, Michael
- Venue
- Journal of Clinical Lipidology
- Publisher
- Elsevier BV
- Published
- 2018-07
- Volume
- 12
- Issue
- 4
- Pages
- 898-907.e2
- ISSN
- 1876-4789 (ISSN-L)
- 1933-2874
- OpenAlex
- W2799681874
- Cited by
- 82
- References
- 9
- Citations by year
- 2026: 6 · 2025: 21 · 2024: 10 · 2023: 7 · 2022: 7 · 2021: 8 · 2020: 9 · 2019: 9 · 2018: 4
- FWCI
- 5.66
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of clinical lipidology (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- 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, disease burden, quality of life, psychosocial impact, acute pancreatitis, dietary management, employment, interpersonal relationships, delayed diagnosis
- MeSH terms
- Adolescent, Adult, Female, Humans, Hyperlipoproteinemia Type I, Male, Middle Aged, Pancreatitis, Surveys and Questionnaires, Severity of Illness Index, Social Behavior, Cost of Illness, Diet, Fat-Restricted, Internet, Young Adult
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