Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > Wolman disease

Wolman disease

Tuesday 8 June 2004

Definition: Wolman’s disease is a rare autosomal recessive lysosomal storage disease.

Synopsis

- failing to thrive
- progressive hepatosplenomegaly
- abdominal calcifications
- Peripheral blood: vacuolated lymphocytes
- Bone marrow aspiration: foamy histiocytes.

- Liver (hepatic Wolman disease)

  • macroscopy: markedly enlarged, orange or butter-yellow with smooth and soft texture
  • marked steatosis
  • elliptical empty clefs predominantly in the Kupffer cells (cholesterol storage in the reticulo-endothelial cells)
  • foamy histiocytes in portal tracts and periportal areas
  • enlarged and vacuolated Kupffer cells
  • portal fibrosis and periportal fibrosis
  • lobular clusters of foamy macrophages
  • polarisation: massive storage of birefringent material

- esophageal varices

- Intestine

  • intestinal infiltration

- Spleen (splenic Wolman disease)
- Lymph nodes
- Bone marrow, thymus, tonsils, blood
- kidneys
- thyroid
- adrenals (adrenal Wolman disease)

- atherosclerosis

  • early fatty streaks

-  pulmonary hypertension
- diffuse punctate adrenal calcification
- acid cholesteryl ester hydrolase deficiency
- disseminated organ foam cell infiltration

Ultrastructure

- large lipid droplets in enlarged lysosomes
- dilated and distended endoplasmic reticulum

Laboratory

- deficient acid lipase activity in the leukocytes and fibroblasts (by 4-methylumbelliferyl palmitate assay)

Etiology

- mutations in the lysosomal acid lipase (LIPA) gene at 10q24-q25

See also

- lysosomal acid lipase deficiency