Indian prevalence of familial hypercholesterolemia demystified by applying Dutch lipid clinic network criteria
DOI:
https://doi.org/10.18203/2349-3933.ijam20223018Keywords:
FH, High LDL cholesterol, Premature coronary artery disease, DLCN criteria, Arcus cornelis, Tendon xanthomaAbstract
Background: Dyslipidemia is a growing problem in India, with familial hypercholesterolemia (FH) being an under diagnosed and under treated cause of the same. FH is a common genetic disorder associated with high LDL cholesterol, leading to premature CAD and peripheral vascular diseases. The prevalence of FH is 1 in 250 individuals. True global prevalence of FH is underestimated. The prevalence of FH in Indian population is still unknown.
Methods: A total 4000 patients who had tested their lipid profile at Max hospital, between Aug 2017-Aug 2019 were screened. Out of these we found 530 patients with LDL cholesterol ≥155 mg/dl. Amongst these, 90 patients consented for clinic visit and examination, and thus enrolled and assessed for FH using the Dutch lipid clinic network (DLCN) criteria. Based on scores, patients were diagnosed as definite, probable, possible, or no FH. Other risk factors known to cause dyslipidemia such as smoking, diabetes mellitus and hypertension were excluded.
Results: In a general population of 4000 patients, 4 individuals were detected with definite FH, showing a prevalence of 1 in 1000 (0.1%). Out of the enrolled 90 patients with high LDL cholesterol, 4 (4.44%) were diagnosed as definite, 14 (15.56%) as probable, 33 (36.67%) as possible, and 39 (43.33%) as unlikely FH.
Conclusions: Prevalence of FH appears to be much higher among Indians with high LDL cholesterol. Therefore, it should not be ignored in individuals with high LDL cholesterol. To detect patients with FH, routine screening with simple DLCN criteria may be effectively used.
References
Landmesser U, Chapman MJ, Farnier M, Gencer B, Gielen S, Hovingh GK et al. Proprotein convertase subtilisin/ kexin type 9 inhibitors: practical guidance for use in patients at very high cardiovascular risk. Eur Heart J. 2017;38(29):2245-55.
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA et al. Familial Hypercholesterolaemia, Homozygous familial hyper cholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society, European heart J. 2014;35(32):2146-57.
Wiegman A, Gidding SS, Watts GF, Chapman MJ, Ginsberg HN, Cuchel M et al. Familial hypercholesterolaemia in children and
adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart
J. 2015;36(36):2425-37.
Futema M, Whittall RA, Kiley A. Analysis of the frequency and spectrum of mutations recognized to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic. Atherosclerosis. 2013; 229:161.
Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic
heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol. 2004;160:407.
Goldberg AC, Hopkins PN, Toth PP. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5:S1.
Santos RD, Gidding SS, Hegele RA. Defining severe familial hyper-cholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes Endocrinol. 2016;4:850.
Humphries SE, Whittall RA, Hubbart CS. Genetic causes of familial hyper-cholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J Med Genet. 2006;43:943.
Sjouke B, Kusters DM, Kindt I. Homozygous autosomal dominant hyper cholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J. 2015;36:560.
Khera AV, Won HH, Peloso GM. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients with Severe Hyper cholesterolemia. J Am Coll Cardiol 2016;67:2578.
Nordestgaard B, Chapman M, Humphries S. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus Statement of the European Atherosclerosis Society. Eur Heart J. 2013;34:3478e3490.
Sawhney JPS. Prevalence of familial hypercholesterolemia in premature coronary artery disease patients admitted to a tertiary care hospital in North India, Indian Heart J. Indian Heart J. 2019;71(2):118-22.
Benn M, Watts GF, Tybjærg-Hansen A. Mutations causative of familial hyper-cholesterolaemia: screening of 98 098 individuals from the Copenhagen
General Population Study estimated a prevalence of 1 in 217. Eur Heart J. 2016;37:1384e1394.
De Ferranti SD, Rodday AM, Mendelson MM, Wong JB, Leslie LK, Sheldrick RC. Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). Circulation. 2016;133(11):1067-72.
