ApolipoproteinA1-75 G/A (M1-) polymorphism and lipoprotein(a); anti- vs. pro-Atherogenic properties.

BACKGROUND: ApolipoproteinA1 (apoA1) is the major apoprotein constituent of high-density-lipoprotein(HDL). The relationship of apoA1 -75 bp(M1-) allele polymorphism with lipoprotein phenotype and cardiovascular disease (CVD) remain unclear. Overnight fasting blood samples were collected from a cohort of high-risk Omani population, 90 non-diabetic subjects and 149 type 2 diabetes mellitus (T2DM) subjects for genotype and phenotype studies. RESULTS: The M1+ and M1- alleles frequencies were 0.808 and 0.192 for M1+ and M1-, respectively, comparable to the frequency of apoA1 (M1+ and M1-) amongst a healthy Omani population, 0.788 and 0.212, respectively. The frequencies of the hetero- and homozygous subjects for the MspI polymorphism at -75 (M1-) of the apoA1 gene were in Hardy-Weinberg equilibrium. The mean Lp(a) concentration was significantly higher(P = 0.02) in subjects carrying M1- allele compared to M1+ allele of the APOA1 gene with an odd ratio of 2.3(95% CI, 1.13-14.3), irrespective of gender and the diabetic status. CONCLUSION: ApolipoproteinA1-75 G/A (M1-) polymorphism is relatively common and is positively associated with Lp(a) and therefore, may confer a potential risk for cardiovascular disease (CVD).

Atypical presentation of a middle age male with severe hypertriglyceridaemia: a case report.

BACKGROUND: Severe hypertriglyceridaemia (HTG) is uncommon but most prevalent in subjects with type 2 diabetes mellitus (T2DM) and excess ethanol intake. CASE PRESENTATION: We describe a case of a middle age male (53 y) presenting to the emergency room with acute atypical central chest pain and severe HTG in the absence of evidence of overt ischaemic heart disease (IHD). Admission ECG and EET (exercise tolerance test) were negative for reversible ischaemic changes. His admission glucose was 12.2 mmol/l, triglycerides (TG) were 103 mmol/l, total cholesterol 37 mmol/l. Cardiac Troponin T could not be measured on three occasions but CK MB mass was normal at 3 mug/l. The patient was started on Bezafibrate 400 mg OD, Simvastatin 20 mg nocte, Omacor (Omega-3 fish oil) 1 gm bd and Metformin 500 mg tds. Four weeks after admission, lipid and liver profiles showed remarkable improvement, TG 2.9 mmol/l, Tchol 6.3 mmol/l and HDLc 1.5 mmol/l, ALAT and GGT were normal. CONCLUSION: A case report of severe hypertriglyceridaemia with atypical presentation demonstrate the role of combined lipid modifying agents in lowering triglycerides and cholesterol as well as improving liver enzymes.