Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

Ellen R. Elias*, Mira B. Irons, Anne D. Hurley, G. Stephen Tint, Gerald Salen

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

137 Scopus citations

Abstract

We describe the clinical effects of cholesterol supplementation in 6 children with the RSH-'Smith-Lemli-Opitz' syndrome (SLOS). The children ranged in age from birth to 11 years at the onset of therapy, with pretreatment cholesterol levels ranging from 8 to 62 mg/dl. Clinical benefits of therapy were seen in all patients, irrespective of age at onset of treatment, or severity of cholesterol defect. Effects of treatment included improved growth, more rapid developmental progress, and a lessening of problem behaviors. Pubertal progression in older patients, a better tolerance of infection, improvement of gastrointestinal symptoms, and a diminution in photosensitivity and skin rashes were also noted. There were no adverse reactions to treatment with cholesterol. This preliminary study suggests that cholesterol supplementation may be of benefit to patients with the SLOS.

Original languageEnglish (US)
Pages (from-to)305-310
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume68
Issue number3
DOIs
StatePublished - 1997
Externally publishedYes

Keywords

  • 7-dehydrocholesterol (7-DHC)
  • cholesterol therapy
  • Smith-Lemli-Opitz syndrome (SLOS)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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