SHBC1476

A.ZULKIFLI¹, S.L.T PEK¹, F.SIRAJ¹, W.Y.WAN¹, S.N.A.KAMARUDDIN¹, Z.L.CHAN¹, M.X.LIN¹, L.RABINDRAN¹, S.DISSANAYAKE¹, M.W.J CHUA², W.J.LOH³, T.S.E. LIM⁴, H.C. TAN⁵, S.C. LIM¹, C.F. SUM⁶, S. TAVINTHARAN⁶

Khoo Teck Puat Hospital¹, Sengkang General Hospital², Changi General Hospital³, National Heart Centre⁴, Singapore General Hospital⁵, Admiralty Medical Centre⁶

Hypertriglyceridemia (HTG), is associated with elevated risks of acute pancreatitis (AP) and cardiovascular disease (CVD). In this study, we aimed to describe clincal characteristics and genetic variants, and assess treatment outcomes by examining post recruitment TG levels of patients with severe HTG.

Patients with pre-treated TG levels ≥ 2.3mmol/L and family history of HTG were recruited from KTPH, ADMC, CGH, SGH and NHCS. They underwent genetic testing for 29 genes involved in TG metabolism (including Lipoprotein Lipase(LPL), Apolipoprotein C2(APOA2), Apolipoprotein A5(APOA5), Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1(GPIHBP1), Lipase Maturation Factor 1(LMF1)) using next generation sequencing. Results were analyzed using SPSS.

39 patients were enrolled with age=(40.7±11.2) years, n=23(66.7%) males and n=34(87.2%) Chinese. Two (5.1%) patients had eruptive cutaneous xanthomata and tuberous xanthomas respectively.

Co-morbidities include n=18(46.2%) with diabetes, n=14(35.9%) with hypertension, n=14(35.9%) with AP and n=4(10.3%) with CVD. Patients wre prescribed n=37(94.9%) fenofibrates/omega-3, n=27(69.2%)statin/ezetimibe, n=19(48.7%) glucose-lowering, n=14(35.9%) blood pressure lowering and n=5(12.8%) on anti-platelet/anti-coagulant medications. 

Pre-treatment and post-treatment (1 year) TG levels were 23.9(8.69-36.3)mmol/L and 2.20(1.61-4.01)mmol/L respectively (p<0.0005).

28 patients completed genetic analyses. 1 homozygous LPL, 2 compound heterozygous LPL, 1 heterozygous LMF1, 2 double heterozygous (LPL/APOA5 and LPL/LMF1), 5 heterozygous rare variants and 13 heterozygous common variants were detected.

This prospective study described clinical features and genetic variants in HTG patients locally. 85.7% patients had detectable variants. Further studies are needed to understand the different genetic subtypes.