Studies on the metabolic defect in Broad‐ß disease (hyperlipoproteinaemia type III)

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Abstract
The apoprotein composition of the main lipoprotein fractions (VLDL [very low density lipoprotein], LDL-1 [low density lipoprotein 1], LDL-2 [low density lipoprotein 2] and HDL [high density lipoprotein]) was studied initially in 15 patients with Broad-.beta. disease. Analytical isoelectric focusing of urea-soluble apo-VLDL and apo LDL-1 demonstrated a variant pattern of the polymorphic Apoprotein E [Apo E] with a deficient Apo E-III band in all patients. The Apo E-III deficiency pattern was seen in only 6 out of 304 hyperlipidaemic controls. These 6 Apo E-III deficient controls had characteristic signs of Broad-.beta. disease, and thus represented patients not previously recognized as having the disorder. The Apo E focusing patterns were constant on repeated examinations and were stable under different metabolic conditions. The data show that Apo E-III deficiency in VLDL is a specific qualitative marker for Broad-.beta. disease, allowing an unequivocal diagnosis that had not been possible previously. Indirect evidence suggests that Apo E-III deficiency is the basic lipoprotein abnormality underlying the familial dyslipoproteinemia.

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