Highlights
- •Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease.
- •Multifactorial chylomicronemia (MCM) is a polygenic disorder.
- •Both FCS and MCM patients have very high and variable triglycerides concentration.
- •FCS patients presented a higher frequency of pancreatitis than MCM patients.
- •FCS patients presented less metabolic abnormalities than MCM patients.
Abstract
Background and aims
Chylomicronemia can be either monogenic or multifactorial. The monogenic form, namely
familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disease that
strongly predisposes to pancreatitis. However, the clinical variables differentiating
FCS from multifactorial chylomicronemia (MCM) are not well established. The aims of
the present study were to describe a well-defined cohort of FCS subjects and to investigate
the differences between patients with FCS and MCM.
Methods
A total of 25 FCS and 36 MCM patients were included in the present study. FCS patients
were genetically confirmed, whereas MCM patients had negative genetic testing, triglycerides
above 10 mmol/L at least once and the presence of both chylomicrons and VLDL in plasma.
Results
FCS patients presented a significant higher frequency of pancreatitis (60% vs. 6%), multiple pancreatitis (48% vs. 3%) and abdominal pain (63% vs. 19%) and a lower frequency of metabolic abnormalities than in the MCM group (p < 0.0001). In addition, the frequency of cardiovascular events was higher in the
MCM group than in the FCS group (17% vs. 0%), although the difference was not statistically significant (p = 0.07). In a univariate regression model, the significant predictors of FCS were
age at first manifestation (β = −2.11, p = 0.0005), body mass index (BMI) (β = −1.82, p < 0.001) and gamma-glutamyl transferase (GGT) (β = −1.64, p = 0.001).
Conclusions
Our study identified several variables that significantly differentiates FCS from
MCM patients. These results need to be replicated in larger cohorts to identify the
independent predictors of FCS.
Graphical abstract
Graphical Abstract
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to AtherosclerosisAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Chylomicronaemia–current diagnosis and future therapies.Nat. Rev. Endocrinol. 2015; 11: 352-362
- Primary lipoprotein-lipase-activity deficiency: clinical investigation of a French Canadian population.CMAJ (Can. Med. Assoc. J.). 1989; 140: 405-411
- Familial chylomicronemia syndrome related chronic pancreatitis: a single-center study.Hepatobiliary Pancreat. Dis. Int. 2014; 13: 209-214
- Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recommendations and proposal of an "FCS score.Atherosclerosis. 2018; 275: 265-272
- Targeting APOC3 in the familial chylomicronemia syndrome.N. Engl. J. Med. 2014; 371: 2200-2206
- Specific assays for lipoprotein lipase and hepatic lipase activities of post-heparin plasma.in: Peeters H. Protides of Biological Fluids. Permagon Press, Oxford1978: 243-246
- Harmonizing the metabolic syndrome: a joint interim statement of the international diabetes federation task force on epidemiology and prevention; national Heart, lung, and blood Institute; American Heart association; world Heart federation; international atherosclerosis society; and international association for the study of obesity.Circulation. 2009; 120: 1640-1645
- The burden of familial chylomicronemia syndrome from the patients' perspective.Expert Rev. Cardiovasc Ther. 2017; 15: 879-887
- Issues in hypertriglyceridemic pancreatitis: an update.J. Clin. Gastroenterol. 2014; 48: 195-203
- Etiology and risk of lactescent plasma and severe hypertriglyceridemia.J Clin Lipidol. 2011; 5: 37-44
- Gamma glutamyltransferase and metabolic syndrome risk: a systematic review and dose-response meta-analysis.Int. J. Clin. Pract. 2015; 69: 136-144
- Role of obesity and lipotoxicity in the development of nonalcoholic steatohepatitis: pathophysiology and clinical implications.Gastroenterology. 2012; 142 (e6): 711-725
- Alterations in plasma triglycerides lipolysis in patients with history of multifactorial chylomicronemia.Atherosclerosis. 2017; 265: 22-28
- Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.N. Engl. J. Med. 1996; 335: 848-854
- Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.J Clin Lipidol. 2018; https://doi.org/10.1016/j.jacl.2018.03.093
Article Info
Publication History
Published online: December 28, 2018
Accepted:
December 5,
2018
Received in revised form:
November 29,
2018
Received:
October 29,
2018
Identification
Copyright
© 2018 Elsevier B.V. All rights reserved.
