Familial hypercholesterolemia (a form of familial type II hyperlipoproteinemia) is transmitted as a dominant trait with homozygotes presenting in childhood with marked elevation of LDL and planar xanthormas. We studied two patients who presented as children with marked elevation of LDL and planar xanthomas but who, after family studies and clinical management, proved to have a unique disorder. Both parents and the grandparents of each subject had normal plasma lipid levels. The average drop in plasma cholesterol during dietary therapy alone ranged from 34 to 44% in three trials; the addition of low-dose cholestyramine therapy (8-12 gm/day) resulted in a decrease in plasma cholesterol of 74% in casel and of 55% in case 2 to levels below 100 mg/dl. One child (case 1) was given high-dose nicotinic acid without significant depression in the level of plasma cholesterol. These patients appear to represent a new clinical syndrome which is extremely sensitive to available therapy. The data also emphasize the importance of family studies in evaluating subjects with hyperlipidemia.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health