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52. IDIOPATHIC HYPERLIPEMIA ASSOCIATED WITH CORONARY ATHEROSCLEROSIS

Author

MARTT, J. M. and CONNOR, W. E.

Abstract

THE CLINICAL syndrome of idiopathic hyperlipemia has been described fully in several recent surveys.* In essence it embodies a triad of signs and symptoms which include abdominal pain, hepatosplenomegaly, and cutaneous xanthomata with an elevated fasting level of serum neutral fat. Increase of serum neutral fat may also be seen in diabetes mellitus, nephrosis, alcoholic cirrhosis, hypothyroidism, and glycogen-storage disease. In the absence of other causative disease, hyperlipemia may be termed idiopathic.5 Although it has been suspected that this disorder of lipid metabolism might predispose to coronary atherosclerosis, as yet no pathological reports of such association have been found. That hyperlipemia may be associated with coronary artery disease has been demonstrated clinically.† The single report in the literature of the postmortem findings in a case of idiopathic hyperlipemia revealed no evidence of coronary atherosclerosis, with death being due to an intercurrent infection.7 The following case history records the

Published
1956
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53. Fetal demise with Smith–Lemli–Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Δ<SUP>7</SUP>-reductase activity in chorionic villi

Author

Linck, L. M., Hayflick, S. J., Lin, D. S., Battaile, K. P., Ginat, S., Burlingame, T., Gibson, K. M., Honda, M., Honda, A., Salen, G., Tint, G. S., and Connor, W. E.

Abstract

Smith–Lemli–Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol Δ7-reductase (DHCR7). We diagnosed SLOS in a fetus following intrauterine demise at 32 weeks' gestation. Chorionic villus (CV) sampling had been performed at 30 weeks because oligohydramnios and atrioventricular septal defect were noted on fetal ultrasound. On fetal post-mortem examination, a midline U-shaped soft palate cleft, micrognathia, postaxial polydactyly of the fingers with single transverse palmar creases bilaterally, and cutaneous syndactyly of toes two–three bilaterally suggested SLOS. We hypothesized that SLOS could be confirmed by analysis of tissue sterols despite extensive autolysis, and by measurement of enzyme activity in CV cells. Measurement of DHCR7 activity in CV cells was undertaken using ergosterol as a substrate. CV cells were unable to convert any ergosterol to brassicasterol after a 72 h incubation period while control CV cells reduced 12.6–71.8% of ergosterol to brassciasterol in a 72 h period. SLOS was confirmed by measurement of elevated 7-dehydrocholesterol (7-DHC) in the CV cells. Measurements of sterols were made in multiple fetal tissues. All tissues analysed showed elevated 7-DHC with markedly increased 7-DHC/cholesterol ratios. Copyright © 2000 John Wiley & Sons, Ltd.

Published
2000

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