IJCM  Vol.5 No.10 , May 2014
Accelerated Atherosclerosis in a Young Female with Familial Hypercholesterolemia
ABSTRACT

Familial hypercholesterolemia is an autosomal dominant genetic disease due to mutation in low-density lipoprotein-cholesterol receptor gene. It is characterized by elevated plasma low-density lipoprotein-cholesterol and the consequence of which leads to premature cardiovascular disease. The mainstay in the management of familial hypercholesterolemia patient is the treatment with high potency statin. However, current research shows influence of the type of low-density lipoprotein-cholesterol receptor mutations on severity of the cardiovascular disease, lipid profile, and response to statin treatment. We are here presenting a case of young Indian female patient who was diagnosed with familial hypercholesterolemia and treated with percutaneous transluminal coronary angioplasty in view of double vessel disease in the third decade of her life. She was prescribed with statin therapy for elevated low-density lipoprotein cholesterol. After 3 years, she presented once again with a triple vessel disease along with patent stented segments and abnormal lipid profile.


Cite this paper
Otikunta, A. , Polamuri, P. , Y V, S. , Srinivas, R. , Thakkar, A. and Sarang, A. (2014) Accelerated Atherosclerosis in a Young Female with Familial Hypercholesterolemia. International Journal of Clinical Medicine, 5, 541-545. doi: 10.4236/ijcm.2014.510074.
References
[1]   Nordestgaard, B.G., Chapman, M.J., Humphries, S.E., Ginsberg, H.N., Masana, L., et al. (2013) 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. European Heart Journal, 34, 3478-3490.
http://dx.doi.org/10.1093/eurheartj/eht273

[2]   Marks, D., Thorogood, M., Neil, H.A. and Humphries, S.E. (2003) A Review on the Diagnosis, Natural History, and Treatment of Familial Hypercholesterolaemia. Atherosclerosis, 168, 1-14.
http://dx.doi.org/10.1016/S0021-9150(02)00330-1

[3]   Familial Hypercholesterolaemia (FH): Report of a Second WHO Consultation, Geneva, 4 September 1998. World Health Organization, Human Genetics Program, 1999.

[4]   Karayan, L., Qiu, S., Betard, C., Dufour, R., Roederer, G., et al. (1994) Response to HMG CoA Reductase Inhibitors in Heterozygous Familial Hypercholesterolemia Due to the 10-kb Deletion (“French Canadian Mutation”) of the LDL Receptor Gene. Arteriosclerosis, Thrombosis, and Vascular Biology, 14, 1258-1263.
http://dx.doi.org/10.1161/01.ATV.14.8.1258

[5]   Junyent, M., Gilabert, R., Jarauta, E., Núñez, I., Cofán, M., et al. (2010) Impact of Low-Density Lipoprotein Receptor Mutational Class on Carotid Atherosclerosis in Patients with Familial Hypercholesterolemia. Atherosclerosis, 208, 437-441.
http://dx.doi.org/10.1016/j.atherosclerosis.2009.07.058

[6]   Miltiadous, G., Xenophontos, S., Bairaktari, E., Ganotakis, M., Cariolou, M., et al. (2005) Genetic and Environmental Factors Affecting the Response to Statin Therapy in Patients with Molecularly Defined Familial Hypercholesterolaemia. Pharmacogenetics and Genomics, 15, 219-225.
http://dx.doi.org/10.1097/01213011-200504000-00005

[7]   Alonso, R., Mata, N., Castillo, S., Fuentes, F., Saenz, P., et al. (2008) Cardiovascular Disease in Familial Hypercholesterolaemia: Influence of Low-Density Lipoprotein Receptor Mutation Type and Classic Risk Factors. Atherosclerosis, 200, 315-321.
http://dx.doi.org/10.1016/j.atherosclerosis.2007.12.024

[8]   Bertolini, S., Cantafora, A., Averna, M., Cortese, C., Motti, C., et al. (2000) Clinical Expression of Familial Hypercholesterolemia in Clusters of Mutations of the LDL Receptor Gene that Cause a Receptor-Defective or Receptor-Negative Phenotype. Arteriosclerosis, Thrombosis, and Vascular Biology, 20, E41-E52.
http://dx.doi.org/10.1161/01.ATV.20.9.e41

[9]   Koeijvoets, K.C., Rodenburg, J., Hutten, B.A., Wiegman, A., Kastelein, J.J., et al. (2005) Low-Density Lipoprotein Receptor Genotype and Response to Pravastatin in Children with Familial Hypercholesterolemia: Substudy of an Intima-Media Thickness Trial. Circulation, 112, 3168-3173.
http://dx.doi.org/10.1161/CIRCULATIONAHA.105.565507

[10]   Jansen, A.C., van Wissen, S., Defesche, J.C. and Kastelein, J.J. (2002) Phenotypic Variability in Familial Hypercholesterolaemia: An Update. Current Opinion in Lipidology, 13, 165-171.
http://dx.doi.org/10.1097/00041433-200204000-00008

[11]   Austin, M.A., Hutter, C.M., Zimmern, R.L. and Humphries, S.E. (2004) Familial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review. American Journal of Epidemiology, 160, 421-429.
http://dx.doi.org/10.1093/aje/kwh237

[12]   Koeijvoets, K.C., Wiegman, A., Rodenburg, J., Defesche, J.C., Kastelein, J.J., et al. (2005) Effect of Low-Density Lipoprotein Receptor Mutation on Lipoproteins and Cardiovascular Disease Risk: A Parent-Offspring Study. Atherosclerosis, 180, 93-99.
http://dx.doi.org/10.1016/j.atherosclerosis.2004.10.042

[13]   Humphries, S.E., Whittall, R.A., Hubbart, C.S., Maplebeck, S., Cooper, J.A., et al. (2006) Genetic Causes of Familial Hypercholesterolaemia in Patients in the UK: Relation to Plasma Lipid Levels and Coronary Heart Disease Risk. Journal of Medical Genetics, 43, 943-949.
http://dx.doi.org/10.1136/jmg.2006.038356

[14]   Sun, X.M., Patel, D.D., Knight, B.L. and Soutar, A.K. (1998) Influence of Genotype at the Low Density Lipoprotein (LDL) Receptor Gene Locus on the Clinical Phenotype and Response to Lipid-Lowering Drug Therapy in Heterozygous Familial Hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study Group. Atherosclerosis, 136, 175-185.
http://dx.doi.org/10.1016/S0021-9150(97)00181-0

[15]   Sijbrands, E.J., Lombardi, M.P., Westendorp, R.G., Leuven, J.A., Meinders, A.E., et al. (1998) Similar Response to Simvastatin in Patients Heterozygous for Familial Hypercholesterolemia with mRNA Negative and mRNA Positive Mutations. Atherosclerosis, 136, 247-254.
http://dx.doi.org/10.1016/S0021-9150(97)00216-5

[16]   Chaves, F.J., Real, J.T., Garcia-Garcia, A.B., Civera, M., Armengod, M.E., et al. (2001) Genetic Diagnosis of Familial Hypercholesterolemia in a South European Outbreed Population: Influence of Low-Density Lipoprotein (LDL) Receptor Gene Mutations on Treatment Response to Simvastatin in Total, LDL, and High-Density Lipoprotein Cholesterol. The Journal of Clinical Endocrinology & Metabolism, 86, 4926-4932.
http://dx.doi.org/10.1210/jcem.86.10.7899

 
 
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