Abstract
Abstract Background The presence of elevated and sustained levels of triglycerides (TG) should raise the suspicion of primary causes of hypertriglyceridemia (HT), in which related genetic mutations would be identified. Thus, the aim of this study was to compare clinical and laboratory parameters of Brazilian patients with different etiologies of severe hypertriglyceridemia. Methods All patients with severe HT (considered as detection of TG above 880 mg/dL on at least 2 occasions) followed in the dyslipidemia outpatient clinic of Federal University of Ceará/Brazil, whose molecular study to investigate genetic variants potentially related to hypertriglyceridemia and pancreatitis has been previously performed (ABCA1 AGPAT2 AKT2 APOA5 APOC2 BSCL2 CAV1 CFTR CIDEC CTRC CYP27A1 GPIHBP1 LIPA LIPE LMF1 LMNA LMNB2 LPL PLIN1 POLD1 PPARG PRSS1 PSMB8 SMPD1 SPINK1 ZMPSTE24) were evaluated. Results Sixty-six patients were evaluated, identifying 39 (59%) with severe primary HT. Familial Chylomicronemia Syndrome (FCS) was identified in 14 (36%) of the 39 cases of severe primary HT. The main findings are shown in table 1. Compared with other etiologies, FCS patients presented an increased, precocious and recurrent incidence of pancreatitis, earlier detection and higher levels of TG. In patients with severe HT without identification of primary causes, a high incidence of alcoholism and diabetes was observed, with a tendency to higher glycated hemoglobin values among these, in addition to median Body Mass Index compatible with obesity. Conclusion FCS patients had the most severe clinical presentation of HT. The high prevalence of secondary factors for HT in patients with a negative genotype reinforces the indication of adequate management of these variables even in cases of primary etiology, aiming at not overlapping pathological mechanisms. In cases of severe HT, metabolic control is still a challenge.
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