Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder that affects ∼1 in 250–500 individuals globally. The only prevalence study in India shows FH in 15% of patients with premature CAD in North Indians. There are only 6 genetic studies in India of the total mutations, 32% are LDLR mutations, 4% are ApoB, 2% are PCSK9 mutations and the mutational spectrum for 37% is unknown. This calls for widespread genetic screening which could help identify definite FH patients. European Atherosclerosis Society-Familial Hypercholesterolemia Studies Collaboration (EAS- FHSC) has taken an initiative to develop a worldwide registry of FH. India is also a part of the collaboration and 3 groups from Mumbai, Delhi and Chennai are actively contributing to this registry. We believe this review might help to understand the Indian scenario of FH and investigators across India can contribute in managing FH in India and further help in the detection, diagnosis and treatment.

An Indian family of multiple endocrine neoplasia type 1 (MEN1): molecular diagnosis, treatment and follow up.

BACKGROUND/OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal, dominant syndrome, characterized mainly by the combination of tumors involving the parathyroid, pancreatic and pituitary glands. Genetic sequencing leading to early treatment of family members has not yet been reported in Indian patients. METHODS: We performed molecular analysis of the MEN1 gene to identify mutations in an Indian family with MEN1 syndrome. The proband was identified with multiple peptic ulcers because of multifocal recurrent gastrinomas, as well as parathyroid and pituitary adenomas. All the 10 exons of the MEN1 gene were amplified using the polymerase chain reaction (PCR). The MEN1 gene was then screened by direct DNA sequencing. RESULTS: The proband is asymptomatic 3 years after total pancreatectomy and removal of parathyroid adenomas. DNA sequencing revealed the presence of a heterozygous Y227X mutation in exon 4 of the MEN1 gene in the proband. Four of the seven mutant-carrying family members are at present asymptomatic. Following screening, one asymptomatic child has been identified with and treated for insulinoma and parathyroid adenoma. CONCLUSION: Detection of the MEN1 gene mutation enables selection of family members for screening and long-term follow up.

Prevalence of dyslipidemia in young adult Indian population.

BACKGROUND: Cardiovascular diseases (CVD) are the major cause of morbidity and mortality in our society with dyslipidemia contributing significantly to atherosclerosis. Thus measurement of plasma lipids would help in identifying people at risk for CVD. The goal of this study was to ascertain the prevalence of Dyslipidemia among young adult population in urban India. MATERIAL AND METHODS: The study was conducted for a period of one year--from 1st January 2006 to 31st December 2006. Around 1805 subjects with > or =40 age group were selected from a population of approximately 9000 urban dwellers who had attended annual general health check ups in P. D. Hinduja National Hospital and Medical research Center. Health status was evaluated by physical check ups, complete fasting lipid profiles and blood glucose levels. Dyslipidemia risk and impaired blood sugar levels were determined as per National Cholesterol Education Program (NCEP) - Adult Treatment Panel (ATP) III guidelines and American Diabetes Association (ADA) respectively. RESULTS: The prevalence of dyslipidemia was observed to be higher in males then in females. Among participants who had a total Cholesterol (TC) concentration > or = 200 mg/dl, 38.7% were males and 23.3% were females. High density lipoprotein cholesterol (HDL-C) was abnormally low in 64.2% males and 33.8% in females. The increase of prevalence of hypercholesterolemia and hypertriglyceridemia was more prominent in 31-40 age group than in < or =30 age group. CONCLUSION: The low percentage of adults with controlled lipid concentrations suggests that there is a need for awareness programs for the prevention and control of Dyslipidemia and impaired blood sugar levels.

Health status of Indian population--current scenario.

OBJECTIVE: We aimed at establishing reference intervals for the various biochemical and hematological analytes in healthy population. We also tried to find the percentage of people with coronary artery disease (CAD) and the associated risk factors in 39,940 subjects who had attended the health check up program at our hospital from the years 1996 to 2001. METHODS: The medical record folders of all the subjects were screened manually. Reference values were established using SPSS-8.0 package and the percentiles calculated and with it the corresponding 90% confidence interval (CI). RESULTS: The prevalence of hypertension, diabetes mellitus, and coronary artery disease was found to be 22.5%, 14.2%, and 3.9% respectively. In addition only 41.1% of the population was found to be normolipemic. Most of the analytes showed reference intervals which were in agreement with our reporting values. There was no influence of diet on the reference intervals. Also, there were some analytes like lipids where it was felt that changing the reference values would assign the subjects at greater risk for CAD. CONCLUSION: Implementation of reference intervals in case of lipids poses a dilemma. Lifestyle and diet modifications would have to be implemented to reduce the burden of CAD in this population.