Abstract

COLACO, Inês et al. Familial Chylomicronaemia Syndrome (Fcs): A Diagnostic Algorithm. Medicina Interna [online]. 2021, vol.28, n.4, pp.42-50.  Epub Dec 01, 2021. ISSN 0872-671X.  https://doi.org/10.24950/rspmi.r.92.4.2021.

Hypertriglyceridemia increases not only the cardiovascular risk but can also cause abdominal pain and recurrent pancrea-titis when in very high levels. Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disease that affects chylomicron metabolism. FCS is most commonly caused by mutation of the lipoprotein lipase (LPL) gene, which results in triglycerides 10 times higher than normal. The phenotypic resemblance makes the differential diagnosis with multifacto-rial chylomicronaemia very difficult, requiring genetic testing. Treatment has 2 goals: reducing cardiovascular risk as well as pancreatitis prevention. Volanevorsen is authorized for FCS treatment, acting by triglyceride clearance non-related to lipo-protein lipase. Phase 2 studies showed an apoC-III and TG reduction of 79.6% and 70.9% respectively; in phase 3 studies the TG reduction was 77% with minor adverse reactions. Data on the cardiovascular risk reduction are limited. We propose an algorithm for the approach of hypertriglyceridemia adapted to the Portuguese reality. Exclusion of secondary causes for hypertriglyceridemia begins in primary care; hospital referral is needed to confirm the diagnosis based on the score proposed by Moulin et al in 2018.

Keywords : Algorithms; Decision Support Techniques; Hyperlipoproteinemia Type I/diagnosis.

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