Endocrine Abstracts

JOINT2658

Familial chylomicronemia syndrome (FFS) is a severe form of dyslipidemia resulting from the loss of function of the enzyme lipoprotein lipase (LPL) or one of its cofactors, such as apolipoprotein A5 (apo A5) or apolipoprotein C-II (apo CII). It is a rare disease, with an estimated prevalence of 1:1,000,000 and important implications for the health of affected individuals. We describe the case of an infant who presented manifestations of the disease at 4 months of age, during a COVID-19 episode. The child was admitted to the hospital with fever and diarrhea. The laboratory investigation confirmed acute SARS-CoV-2 infection, liver steatosis and hepatomegaly, hypertriglyceridemia (triglycerides 9,394 mg/dl), hypercholesterolemia (total cholesterol 395 mg/dl) and elevated alanine and aspartate aminotransferases. Considering the risk of acute pancreatitis, breastfeeding was stopped, and the child was put on a special diet formula with 0% fat and supplemented with medium-chain triglycerides. After a week, the child was asymptomatic and repeated blood tests revealed a significant decrease in serum triglycerides (262 mg/dl) and total cholesterol (284 mg/dl). The child was discharged from the hospital and, during outpatient follow-up, maintained normal triglyceride levels during the transition to a normal diet. We performed a search for variants in the following gene: ATP-binding cassette transporter A1 (ABCA1), 1-Acylglycerol-3-Phosphate O-Acyltransferase 2 (AGPAT2), AKT Serina/Treonina Quinase 2 (AKT2), Apolipoprotein A5 (APOA5), Apolipoprotein C2 (APOC2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2), Caveolin 1 (CAV1), Caveolae Associated Protein 1 (CAVIN1), CF Transmembrane Conductance Regulator (CFTR), Cell Death Inducing DFFA Like Effector C (CIDEC), Chymotrypsin C (CTRC), Cytochrome P450 Family 27 Subfamily A member 1 (CYP27A1), Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1 (GPIHBP1), Lysosomal Acid Lipase A (LIPA), Lipase E Hormone Sensitive Type (LIPE), Lipase Maturation Factor 1 (LMF1), Lamin A/C (LMNA), Lamin B2 (LMNB2), Lipoprotein Lipase (LPL), Mitofusin 2 (MFN2), Perilipin 1 (PLIN1), DNA Polymerase Delta 1, Catalytic Subunit (POLD1), Peroxisome Proliferator Activated Receptor Gamma (PPARG), Serine Protease 1 (PRSS1), Proteasome 20S Subunit Beta 8 (PSMB8), Sphingomyelin Phosphodiesterase 1 (SMPD1), Serine Peptidase Inhibitor Kazal Type 1 (SPINK1) and Zinc Metallopeptidase STE24 (ZMPSTE24). The results did not show any variant that could explain the phenotype, which led us to hypothesize that the transient severe hypertriglyceridemia was secondary to COVID-19 infection.