ABSTRACT
Familial hypercholesterolemia is a single gene disorder with an autosomal dominant pattern of inheritance. Here we report an 18 year old South Indian girl who presented with myocardial infarction. She had xanthomas and an elevated serum low density lipoprotein cholesterol (LDL-C). Her mother and maternal uncle had died at a young age due to myocardial infarction. Her only sibling, 15 year old younger sister also had xanthomas and an elevated LDL-C. This report is to emphasise the need to clinically recognize xanthomas and its association with elevated LDL-C, premature atherosclerosis and familial inheritance. Early diagnosis and early initiation of treatment will save the affected individual and the other family members.
ABSTRACT
To identify the prevalence of microvascular complications in patients with metabolic syndrome and compare them with patients with only diabetes mellitus, a retrospective study was carried out at a tertiary health care centre in South India with 150 patients, in two groups of 75 with almost identical age distributions. The test group (n = 75) fulfilled the NCEP AT III guidelines for metabolic syndrome. The control group (n = 75) had only diabetes mellitus and no other components of metabolic syndrome. They were assessed for the microvascular complications of diabetes mellitus, namely retinopathy (by direct ophthalmoscopy and zeiss f450 plus fundus camera), nephropathy (using overnight spot albumin/creatinine ratio) and neuropathy (using clinical features, abnormal results on Achilles tendon reflex and sensory perception by 10 g Semmes Weinstein monofilament). In the test group, 33.3% were found to have retinopathy, while in control group 13.3% had retinopathy; 38.7% in the test group and 22.7% in the control group had nephropathy; 50.7% in the test group and 26.7% in control group had neuropathy. On comparison the test group had statistically significant (retinopathy p < 0.05, nephropathy p < 0.001 and neuropathy p < 0.05) increase in the prevalence of microvascular complications as compared to the control group. Patients with metabolic syndrome have more prevalence of microvascular complications as compared to patients with only diabetes mellitus.
