Abstract

ARAUJO, M. Beatriz; EIBERMAN, Gabriel; ETCHEVERRY, Natalia  and  PACHECO, Gabriela. Familial chylomicronemia syndrome: pediatric experience in Argentina. Arch. argent. pediatr. [online]. 2022, vol.120, n.3, pp.12-12.  Epub June 01, 2022. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2022.e123.

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease, prevalence 1:200,000 - 1:1,000,000, and is characterized by fasting chylomicrons and very high triglycerides > 880 mg/dl. LPL is the most frequently affected gene, then APOC2, GPIHBP1, APOA5, LMF1, all of them compromising the function of lipoproteinlipase. FCS commonly presents in childhood with recurrent abdominal pain, eruptive xanthomas, failure to thrive, pancreatitis, and sometimes asymptomatic. The conventional treatment is dietetic fat restriction.

The clinical outcome of 20 pediatric patients with FCS recruited from 4 hospitals in Argentina is reported.

Keywords : hyperlipoproteinemia type I; hypertriglyceridemia; dyslipidemias.

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