Abstract
Recent studies have revealed the prevalence of familial hypercholesterolemia (FH) is approximately twice higher than previously estimated and, thus, the disease affects one in 250 persons from the general population. Therefore FH remains the most frequent inherited metabolic disorder.
Due to the genetic defect LDL-cholesterol accumulates both in the plasma and tissues leading to premature and accelerated atherosclerosis. Untreated patients with FH might suffer from myocardial infarction in the third or fourth decade, one third of these events being fatal.
The disease is under-diagnosed and undertreated worldwide. In the Czech Republic the MedPed project focused on early diagnosis and initiation of proper treatment of FH aiming at lowering of the above mentioned risks was initiated in 1998.
A crucial part of the project is so called cascade screening among the relatives of identified FH probands. There are 6,350 registered FH subjects in the nationwide registry, which represents 16% of the expected number of FH patients in the Czech Republic.
This result of screening efforts ranks among the top countries in the world, however, also in spite of the recent expansion of FH treatment options early detection and initiation of treatment of FH remains in the centre of our attention.