Familial Hypercholesterolaemia in Diabetes: Silent Killer in the High-Risk -Cardiovascular Category

Familial hypercholesterolaemia (FHC) is an inherited autosomal dominant lipid disorder characterized by high concentrations of atherogenic low-density cholesterol (LDL-C) levels. High LDL-C levels may cause early and progressive coronary heart disease (CHD) and sudden death. FHC prevalence in Germany lies between 1 : 100 and 1 : 500. Around every tenth individual with early myo-cardial infarction suffers from FHC. Diagnostic criteria are LDL-C levels > 4.9 mmol/l and a family history of FHC with premature CHD and/or clinical symptoms. Cascade screening in families of index cases is the most effective means of early detection and serves as a rational basis for primary prevention. Evaluating specific mutations is the gold standard in gauging individual risk and applying treatment. LDL-C target levels are < 1.4 mmol/l (55 mg/dl) for FHC with very high risk and < 1.8 mmol/l (70mg/dl) or < 50 % of baseline for high-risk individuals. Statins are always the first choice; intensive statins and combinations with ezetimibe and anion exchange should be considered. PCSK9 inhibitors with level Ia evidence of efficacy should be used where CHD targets are not reached in the very high-risk category. Failure to treat progressive CHD using drugs indicates apheresis therapy, as do high Lp(a) levels. Efforts are urgently needed to overcome recent deficits in dia-gnosis and provide lifelong care of patients with FHC.