Familial apolipoprotein B100 deficiency

Familial apolipoprotein B100 deficiency (FDB) was first discovered in 1986. When studying people with moderately elevated plasma cholesterol levels, Vega et al. Noticed that the catabolic rate of low-density lipoprotein (LDL) in a few subjects was slow in vivo, while the LDL receptor function was normal. It was speculated that it might be due to the abnormality of LDL particles themselves. The incidence of FDB in the general population is estimated to be 1 / 700 ~ 1 / 500. The dyslipidemic changes in FDB patients seem to be similar to those in heterozygous FH, mainly due to the moderate or severe increase of plasma total cholesterol concentration and LDL cholesterol concentration.