Response to diet and cholestyramine in a patient with sitosterolemia

P. F. Belamarich, R. J. Deckelbaum, T. J. Starc, B. E. Dobrin, G. S. Tint, G. Salen

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

In this report, an 11-year-old boy with diffuse tendinous and tuberous xanthomatosis and a plasma sterol concentration of 555 mg/dL, consisting primarily of cholesterol, is described. Three months after changing from an unrestricted diet to a cholesterol-lowering diet, his plasma sterol concentration decreased to 221 mg/dL. Because of the degree and rapidity of his response to diet, sitosterolemia was suspected. According to results of capillary gas-liquid chromatography of his plasma sterols, there was a sitosterol concentration of 31.3 mg/dL (normal <1.0 mg/dL), establishing the diagnosis of sitosterolemia. Addition of cholestyramine therapy (8 g/d) to a low sterol diet further lowered his plasma sterol concentration to 173 mg/dL and led to complete regression of all tuberous xanthomata. Tendinous xanthomata regressed at a slower rate. These findings show that the diagnosis of sitosterolemia should be suspected in severely hypercholesterolemic children (total cholesterol >400 mg/dL) whose plasma cholesterol level is highly responsive to dietary manipulation. The rapid and sustained lowering of plasma cholesterol and regression of xanthomata after treatment with diet and cholestyramine suggest that sitosterolemia is a treatable cause of premature atherosclerosis.

Original languageEnglish (US)
Pages (from-to)977-981
Number of pages5
JournalPediatrics
Volume86
Issue number6
StatePublished - Dec 1 1990
Externally publishedYes

Keywords

  • cholesterol
  • cholestyramine
  • sitosterol
  • xanthoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Belamarich, P. F., Deckelbaum, R. J., Starc, T. J., Dobrin, B. E., Tint, G. S., & Salen, G. (1990). Response to diet and cholestyramine in a patient with sitosterolemia. Pediatrics, 86(6), 977-981.