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New diagnostic and therapeutic approaches for the prevention of CVD in patients with familial hypercholesterolaemia
Altschmiedová, Tereza ; Češka, Richard (advisor) ; Rosolová, Hana (referee) ; Rašlová, Katarína (referee)
Atherosclerotic cardiovascular diseases are still the most common cause of death in Europe, despite new diagnostic methods and treatment. Although many accelerators of the atherosclerotic process are known, only LDL-cholesterol is considered to be the causal risk factor for atherosclerosis. Familial hypercholesterolaemia (FH) is an autosomal dominantly inherited disease whose carriers have had a high level of LDL-cholesterol since childhood due to reduced amount or function of LDL receptors . Determination of the causative mutation is not always possible and the diagnosis is established by using some scoring systems which take into account personal and family history and some typical signs (e.g. tendon xanthomas) in addition to LDL-cholesterol value. The treatment of FH is lifelong and to achieve the LDL- cholesterol target, combination therapy (ezetimibe, modern biologic therapy) in addition to statins , is often necessary. However statins are always the mainstay of the treatment. By retrospective analysis of data from 1236 patients diagnosed with FH, we confirmed the cardiovasular risk of these patients is different depending on the presence of other risk factors. At the highest cardiovascular risk were individuals with combination of risk factors - high level of LDL cholesterol and total cholesterol, as...

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