The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C

Neurology. 1993 Jan;43(1):61-4. doi: 10.1212/wnl.43.1_part_1.61.


Niemann-Pick disease type C (NP-C) is a neurovisceral lipidosis characterized by defective intracellular trafficking of cholesterol and lysosomal accumulation of unesterified cholesterol, believed to be an offending metabolite. We studied the effect of cholesterol-lowering agents on hepatic and plasma cholesterol levels in NP-C by randomly assigning 25 patients with NP-C to one of five treatment regimens containing different combinations of cholestyramine, lovastatin, nicotinic acid, or dimethyl sulfoxide (DMSO). Unesterified cholesterol content was measured in liver biopsies before and after 4 months' treatment. All drug regimens except DMSO alone reduced hepatic and plasma cholesterol levels. Toxicity was limited and did not prevent any patient from completing the study. The combination of cholestyramine, lovastatin, and nicotinic acid lowered cholesterol levels in liver and blood with minimal side effects. A controlled clinical study will be necessary to determine if this regimen influences the rate of neurologic progression.

Publication types

  • Clinical Trial
  • Randomized Controlled Trial

MeSH terms

  • Adolescent
  • Adult
  • Anticholesteremic Agents / adverse effects
  • Anticholesteremic Agents / therapeutic use*
  • Child
  • Child, Preschool
  • Cholesterol / analysis*
  • Cholestyramine Resin / administration & dosage
  • Dimethyl Sulfoxide / administration & dosage
  • Drug Therapy, Combination
  • Humans
  • Liver / chemistry*
  • Liver / pathology
  • Lovastatin / administration & dosage
  • Male
  • Niacin / administration & dosage
  • Niemann-Pick Diseases / blood*
  • Niemann-Pick Diseases / diet therapy
  • Niemann-Pick Diseases / drug therapy


  • Anticholesteremic Agents
  • Cholestyramine Resin
  • Niacin
  • Cholesterol
  • Lovastatin
  • Dimethyl Sulfoxide