Belgian Register of patients with familial hypercholesterolemia
Description
Familial hypercholesterolemia (FH) is a genetic disorder characterized by very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease (CVD). FH is caused by mutations in the LDLR gene that encodes the LDL receptor protein, the apolipoprotein B (ApoB) or the PCSK9 protein, all involved in the removal of LDL from the circulation. Heterozygous FH patient (having one abnormal copy of gene) may develop CVD prematurely at the age of 30 to 40 whereas the homozygous patients (two abnormal copies) may cause severe CVD in childhood. It is expected (but not exactly known) that about 1 in 300 to 500 Belgians citizens have heterozygous FH and 10-20 have homozygous FH. Treatments to control of blood cholesterol must be initiated at early age (in childhood) and consist to dietary modification and statin combined very often with ezetimibe and sometimes with anti-PCSK9 monoclonal antibodies. In heterozygous FH, such treatments are very effective to prevent the occurrence of cardiovascular disease whereas homozygous FH often does not respond to medical therapy and may require other treatments, including LDL apheresis (removal of LDL in a method similar to dialysis) and occasionally liver transplantation.
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Tags
- e0621a72-5969-5a8a-abc9-6129575e3a35
- hdbp0195