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


CONCLUSIONS
FCS imparts a considerable burden across multiple domains with reported impairment on activities of daily living and QoL.
a Department of Medicine , University of Chicago , Chicago , IL , USA.
Michael
M
Davidson
b Akcea Therapeutics , Cambridge , MA , USA.
Michael
M
Stevenson
b Akcea Therapeutics , Cambridge , MA , USA.
Andrew
A
Hsieh
c Division of Nutrition and Metabolic Disease, Department of Internal Medicine , University of Texas Southwestern Medical Center , Dallas , TX , USA.
Zahid
Z
Ahmad
d Trinity Partners , Waltham , MA , USA.
Caroline
C
Crowson
e Department of Medicine, Division of Endocrinology and Metabolism , University of California San Diego , La Jolla , CA , USA.
Joseph L
JL
Witztum
D000203:Activities of Daily Living; D000328:Adult; D002914:Chylomicrons / Q000378:metabolism; D017281:Cost of Illness; D005260:Female; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000503:physiopathology*; D015228:Hypertriglyceridemia / Q000209:etiology; D008297:Male; D011788:Quality of Life
D002914:Chylomicrons
FCS; Familial Chylomicronemia Syndrome; LPLD; Lipoprotein lipase deficiency; acute pancreatitis; burden of illness; hyperlipoproteinemia