1. Background

• acid lipase-A isoenzyme is a lysosomal hydrolase which acts upon cholesteryl esters in various lipoproteins under acid conditions
• first reported by Wolman and associates in 1956

2. Genetic Defect

• genetic defect -> deficiency of acid lipase-A isoenzyme activity -> accumulation of cholesterol (esterified form) and triglycerides in most tissues in the body, but in particular the liver, adrenals, and intestines
• the central nervous system (CNS) is also involved but to a lesser extent
• two clinical variants:

  1. Wolman Disease

  • acute infantile form
  • severe & fatal before age 1 year (usually by 6 months)

  2. Cholesteryl Ester Storage Disease - mild form

1. Classical

• hepatomegaly/hepatosplenomegaly
• malabsorption with steatorrhea
• enlarged and calcified adrenals

2. Additional Gastrointestinal Manifestations

• abdominal distension
• diarrhea
• failure to thrive (FTT)
• jaundice
• vomiting - persistent and forceful

3. Others

• progressive mental deterioration
• anemia

4. Diagnosis

• the presence of bilateral adrenal calcification associated with hepatosplenomegaly, malabsorption, and failure to thrive in an infant

1. Diagnostic

• deficiency of acid lipase-A isoenzyme activity in leukocytes or cultured skin fibroblasts
• prenatal:
  • deficiency of acid lipase-A isoenzyme activity in cultured chorionic villi or amniocytes

2. Imaging Studies

3. For Malabsorption

• see "Malabsorptive Disorders"

4. Serum

• abnormal liver function tests
• conjugated hyperbilirubinemia

5. Pathology

1. Lovstatin

• HMG-CoA reductase inhibitor
• suppresses cholesterol synthesis and apolipoprotein B production with signficant reductions in plasma cholesterol,triglycerides, and LDL cholesterol
• may decrease degree of hepatosplenomegaly & adrenal dysfunction
• 20 mg po bid