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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
has been cited by the following article:
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TITLE:
Accelerated Atherosclerosis in a Young Female with Familial Hypercholesterolemia
AUTHORS:
Adikesava Naidu Otikunta, Praneeth Polamuri, Subba Reddy Y V, Ravi Srinivas, Ashok Thakkar, Arohi Sarang
KEYWORDS:
Familial Hypercholesterolemia, Premature Coronary Artery Disease, Statin
JOURNAL NAME:
International Journal of Clinical Medicine,
Vol.5 No.10,
May
12,
2014
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.