Two unrelated individuals were referred to Lipid Clinics in The Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. Both were diagnosed with heterozygous familial hypercholesterolemia (heFH) after molecular genetic analysis of the low-density lipoprotein (LDL) receptor gene. Since heFH by itself could not account for the massive xanthomas, the presence of an additional hereditary lipid or lipoprotein disorder was suspected. Further genetic analysis revealed homozygozity for mutations in the sterol 27-hydroxylase gene, confirming the diagnosis of cerebrotendinous xanthomatosis (CTX). Markedly, the typical neurological manifestations of CTX were absent, suggestive of a protective role of LDL-receptor deficiency against the severe neurological consequences of CTX.

Summary. In 12 women in the menopause the activity of lipoprotein lipase was determined before administration of 5 × 5 mg estradiol-propionate, then the next day and then 6 weeks after the application had been discontinued. After the administration of 25 mg estradiol the activity of lipoprotein lipase decreased significantly on an average to 51% compared with initial values. After 6 weeks the values returned to the initial values. The activity of lipoprotein lipase can be influenced by the administration of estrogens and the changes found in the values of lipoprotein lipase are in indirect relation to the estrogen activity as evaluated by vaginal cytology.

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Lipoprotein lipase and post heparin esterase activity was determined in groups of healthy men and women and in a group of men with cirrhosis of the liver before the administration of 125 mg testosterone propionate (5 x 25 mg intramuscularly) on the day after the completion of treatment and six weeks later. Lipoprotein lipase and post heparin esterase activity increased significantly in all groups under the influence of testosterone with the exception of lipoprotein lipase in cirrhotics where the increase in activity was not significant. Postheparin esterase reacted to the hormone with a much greater increase in activity which lasted longer than in the case of lipoprotein lipase. The greatest increase in postheparin esterase was recorded in cirrhotics where it amounted to 300% of the initial value. Testosterone acted on these two lipolytic enzymes opposite to the effect of estrogens. This effect is attributed to its anabolie action and to the altered metabolism of this hormone.