Study of platelet aggregation in subjects with early glucose intolerance (EGI).

Background: Role of platelet abnormalities like increased aggregation preceding cardiovascular complications in frank diabetic patients is well established. It was thus intended to see if such a relationship also exists in pre-diabetic stage like early glucose intolerance, so that vascular complications could be dealt with at the earliest. Objectives: To study platelet aggregation in subjects with EGI and to see if any correlation of platelet aggregation existed with parameters of metabolic syndrome. Methodology: We studied 75 patients, 25 each with EGI, frank diabetes and normal glucose tolerance based on oral glucose tolerance test (OGTT) with 75 gm glucose. All patients underwent detailed history and clinical examination. Measurements of various anthropometric parameters like height, weight, waist circumference (WC), BMI, WC/height ratio were also taken. Routine lab examination like complete blood count, peripheral blood smear, fasting lipid profile, KFT, and ECG were also done. Finally, all subjects underwent optical platelet aggregation test with agonist like ADP in 5 μgm concentration in a resting, fasting, and non-smoking state. Results: We found statistically significant increase in platelet aggregation in subjects with DM as well as EGI compared to normal. 40% subjects in EGI group and 52% in frank diabetic group had increased aggregation with ADP in 5 μgm concentration. No correlation of platelet aggregation was seen with various parameters of metabolic syndrome like weight, WC, BMI, fasting blood glucose, fasting triglyceride, total cholesterol, HDL and LDC cholesterol. Conclusion: Abnormal platelet behaviour like increased aggregation which precede the onset of cardio-vascular disease in subjects with DM starts in the latent diabetic stage like EGI itself. Abnormal glucose tolerance is the most important predictor of abnormal platelet behaviour and the anthropometric parameters of metabolic syndrome were not found to be correlated.

Determining the mutation and the first reports of May Hegglin anomaly from Iran and the first homozygous E1841K mutations in the world

May-Hegglin anomaly [MHA] is a rare autosomal disorder which is characterized by triad of thrombocytopenia, giant platelets and Dohle like inclusion bodies in granulocytes. This is the first report of MHA and its mutation from Iran. The specimen of two patients [father 51 and son 15 y/o] collected with EDTA and tri-sodium citrate anticoagulants. CBC and peripheral blood smear studied by automatic cell counter and microscopic examination, respectively. Direct sequencing of extracted DNA of certain exons of MYH9 gene was performed. Both patients had demonstrated the diagnostic triad of MHA. Mutations showed homozygous and heterozygous pattern in the father and the son, respectively. This is the first report of MHA from Iran. The mutation of both patients was E1841K which is the most common type among MYH9 mutations in MHA. The most interesting finding was the homozygous mutation that did not entail any clinical severity