Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia

2014 ◽  
Vol 233 (1) ◽  
pp. 206-210 ◽  
Author(s):  
Paulo Caleb Junior Lima Santos ◽  
Aline Cruz Morgan ◽  
Cintia Elin Jannes ◽  
Luciana Turolla ◽  
Jose Eduardo Krieger ◽  
...  
Keyword(s):  
Lipid Profile ◽  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Low Density ◽  
Lipoprotein Receptor ◽  
Lowering Therapy ◽  
Density Lipoprotein Receptor

scholarly journals Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment

2018 ◽  
pp. 253-259
Author(s):  
V. К. Zafiraki ◽  
Е. D. Kosmacheva ◽  
I. N. Zakharova ◽  
V. A. Korneva ◽  
A. V. Susekov
Keyword(s):  
Familial Hypercholesterolemia ◽  
Genetic Disease ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Premature Death ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Low Density ◽  
Homozygous Familial Hypercholesterolemia ◽  
Lowering Therapy

Homozygous familial hypercholesterolemia is a rare genetic disease featuring extremely high of low-density lipoprotein blood level, cutaneous and tendon xanthomas and accelerated atherosclerosis with often manifestions in the first 2 decades of life, resulting to premature death due to atherosclerosis-related diseases. Modern combined lipid-lowering therapy is able to increase life duration considerably for these patients.

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