Porodična hiperkolesterolemija - mislimo li dovoljno o ovoj teškoj bolesti? [Familial hypercholesterolemia - do we think enough about this severe disease?]

Familial hypercholesterolemia is the most common genetic metabolic disorder and is associated with significant morbidity and mortality from cardiovascular disease, in particular coronary heart disease (CHD). Gene mutations for LDL receptor, APOB or PCSK9 are the main causes of the disease. The incidence of homozygous form of disease is 1:1000000 and ofheterozygous 1:500. Some of the patients have clinical signs like xanthomas, xanthelasmas and corneal arcus. More predictive for the diagnosis are elevated serum LDL cholesterol values and positive family history of early CHD. Identification of the causative mutation provides definitive diagnosis. Diet, statins, combined therapy (statins and ezetimibe) are the first line of treatment, mostly in high doses. LDL apheresis is the procedure of mechanical removal of LDL particles from plasma and has to be performed in patients with homozygous or severe heterozygous form of the disease together with drug treatment. There is a need to increase the awareness of this disease in Croatia but also worldwide with one main goal: to early diagnose and prevent cardiovascular morbidity and mortality