Elevated cholesterol and bile acid synthesis in a young patient with homozygous familial hypercholesterolemia

Kathleen Schwarz, J. Witztum, G. Schonfeld, S. M. Grundy, W. E. Connor

Research output: Contribution to journalArticle

Abstract

Cholesterol balance studies were carried out twice in a young male patient with homozygous familial hypercholesterolemia. At 13 mo, cholesterol balance in this patient averaged 31.3 mg/kg per d, and bile acid excretion was 12.0 mg/kg per d; at 3 yr, results were similar, 27.3 and 15.5 mg/kg per d for cholesterol balance and bile acids, respectively. A normal boy of 3 yr was also studied for comparison with the second study in the authors' patient. Cholesterol balance and bile acid outputs in the normal child were 11.5 and 3.3 mg/kg per d, respectively. Thus, in comparison with the normal child, the patient with homozygous familial hypercholesterolemia had a marked increase in synthesis of cholesterol and bile acids. Although synthesis of bile acids was high in this patient, the fraction of newly synthesized cholesterol converted into bile acids (40-56%) was in the normal range; this suggests that the enhanced output of bile acids was secondary to an increased synthesis of cholesterol and not to malabsorption of bile acids, which likely would have produced a higher fractional conversion. Although the patient has been studied at a younger age than any reported in the literature, two similar children 5 and 6 yr of age were also observed to have elevated cholesterol synthesis.

Original languageEnglish (US)
Pages (from-to)756-760
Number of pages5
JournalJournal of Clinical Investigation
Volume64
Issue number3
StatePublished - 1979
Externally publishedYes

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Hyperlipoproteinemia Type II
Hypercholesterolemia
Bile Acids and Salts
Cholesterol
Reference Values

ASJC Scopus subject areas

  • Medicine(all)

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Elevated cholesterol and bile acid synthesis in a young patient with homozygous familial hypercholesterolemia. / Schwarz, Kathleen; Witztum, J.; Schonfeld, G.; Grundy, S. M.; Connor, W. E.

In: Journal of Clinical Investigation, Vol. 64, No. 3, 1979, p. 756-760.

Research output: Contribution to journalArticle

Schwarz, Kathleen ; Witztum, J. ; Schonfeld, G. ; Grundy, S. M. ; Connor, W. E. / Elevated cholesterol and bile acid synthesis in a young patient with homozygous familial hypercholesterolemia. In: Journal of Clinical Investigation. 1979 ; Vol. 64, No. 3. pp. 756-760.
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AU - Connor, W. E.

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