Lipoprotein (a) hyperlipoproteinemia E78.4

Very rare, autosomal recessive inherited lipid metabolism disorder. An abnormal apolipoprotein E leads to incomplete degradation of chylomicron remnants and IDL (intermediate dense lipoproteins), so that their plasma concentrations increase. The consequences are a massively increased risk of arteriosclerosis.

In addition to LDL, Lp(a) contains ApoB-100, a plasminogen-like Apo(a), which competes with the plasminogen for the binding sites on the exothelial cells (antiplasminogenic effect). High Lp(a) may inhibit local fibrinolysis in the endothelial region of the vessels. Lp(a) concentrations >30mg/dl are considered an independent atherosclerosis risk factor.

Xanthelasma, tuberous xanthomas and tendinous xanthomas, eruptive xanthomas, yellow hand lines due to lipoid deposition(Xanthoma palmare striatum). Coronary sclerosis, peripheral, arterial circulatory disturbance.