This case report confirms that familial apolipoprotein C-II deficiency, which causes severe hypertriglyceridemia due to impaired lipoprotein lipase activation, is inherited as an autosomal recessive trait.
Supports recessive inheritance in apo C-II deficiency; hypothesis-generating for family screening but leaves broader applicability open.
A case of apolipoprotein (apo) C-II deficiency was reported. The patient had high triglyceride levels ranging from 400-910mg/dl. Apo C-II deficiency was tested by immunochemistry, iso-electric focusing and enzyme assay.In this patient plasma lipoproteins (Lps) were mainly chylomicrons, low density Lps (LDL) and high density Lps (HDL) being very low. The findings were compatible with low levels of plasma apo A-I, A-II, B and HDL-cholesterol (HDL-C).In the relatives of the patient his mother and 4 siblings were diagnosed as heterozygotes who had apo C-II concentrations about 50% of normal values and had normal plasma triglyceride levels.The results in this study were confirmed that the defect is inherited as an autosomal recessive trait.
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Yukawa et al. (1988) studied this question.
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