We therefore presented two families who have this rarely seen metabolic disorder of lipid metabolism which leads to coronary atherosclerosis myocardial infarction and death at ealy ages.
The patient was diaqnosed with familial hypercholesterolemia on the basis of conducted research. Detalied information on the treatment is provided.
Rader DJ, Coheidonn J, Hobbs HH. Monogenic hyperchlolesterolemia new insi-ghts in pathogenesis and treatment. J Clin Invest 2003; 111: 1795- 803.
Soutar AK, Naoumova RP. Mecha-nisms of disease. Genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardio-vacs Med 2007; 4 :214-25.
Hopkins PH, Toth PP, Ballantyne CM, Rader DJ; National Lipid Association Expert Panel on Familial Hypercholesterolemia. Familial Hypercholesterolemias: prevalence genetics diagnosis and screening recommen-dations from the national Lipid Association Expert Panel on Familial Hypercholestero- lemia. J Clin. Lipidol 2011; 5 (3 Supp): S 9-17.
Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, et al. 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: 133-40.
Kolansky DM, Cuchel M, Clark BJ, Paridon S, Mc Crindle BW, Wiegers SE, et al. Longitudinal evalition and assessment of cardiovasculyar disease in patients with homozygous familial Hypercholesterolemia . Am J Cardiol 2008; 102: 1438-43.
Hegele RA. Genetic sucpertibylity to heart disease in Canada lessons from patients with familial hypercholesterolemi. Genome National Research Council Canada = Genome Conseil national de recherches Canada. 2006; 46: 1343-50.
Coker M, Ucar SK, SImsek DG, Darcan S, Bak M, Can S. Low density lipoprotein apheresis on pediatrics patients with homozygous familial hypercholesterolemia. Ther Apher Dial 2009; 13:21-8.