Abstract
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Abstract
Year 2021
September 2021

SHBC1476

Abstract Title
A Prospective Cohort Study on Clinical Characteristics, Genetic Variants and Treatment Outcomes of Patients with Hypertriglyceridemia
Authors

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

Institutions

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

Background & Hypothesis

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.

 

Methods

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.

Results

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.

Discussion & Conclusion

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.

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