Abstract
Familial Hypercholesterolemia is a book that addresses a very interesting and important type of hereditary hypercholesterolemia. Familial hypercholesterolemia (FH) represents a true example from nature that allows us to study the mechanisms of atherosclerosis development.
The book begins with a description of the underlying genetic defect that leads to elevated plasma cholesterol levels, after which the authors describe the clinical presentations of FH (a color supplement is included) and underscore the significance of FH as a major risk factor of coronary heart disease. The book provides the reader with basic information pertaining to screening (cascade screening, above all else), diagnosis and treatment of FH.
Non-pharmacologic treatment is a basic approach in FH treatment, whereas LDL-apheresis is an aggressive treatment method that is primarily used in patients with homozygous FH. However, the majority of all FH patients require pharmacologic treatment.
Statins, or a statin + ezetimibe combination, are frequently used in FH. At present, a variety of new classes of lipid-lowering drugs are in development, the most promising group of which is PCSK9-inhibitors (alirocumab and evolocumab).