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[Electron microscopic observations in internal organs in morbus Fabry (author's transl)]
Virchows Archiv. A, Pathological Anatomy and Histology
|May 5, 1978
Summary
Electron microscopy reveals characteristic glycolipid inclusions in multiple organs of a female patient with Fabry disease. These findings in heterozygotic women resemble those in homozygotic men, offering insights into disease pathology.
Area of Science:
- Biochemistry
- Cell Biology
- Pathology
Context:
- Fabry disease is a rare genetic lysosomal storage disorder.
- Characterized by the accumulation of globotriaosylceramide (Gb3) due to alpha-galactosidase A deficiency.
- Electron microscopy provides high-resolution imaging of cellular structures.
Purpose:
- To investigate the ultrastructural morphology and distribution of glycolipid inclusions in various organs of a female patient with Fabry disease.
- To compare the observed inclusions in a heterozygotic female with known findings in homozygotic males.
- To elucidate the relationship between these inclusions and cellular organelles, particularly lysosomes.
Summary:
- Electron microscopy identified intracellular and extracellular glycolipid inclusions in the heart, kidney, lymph nodes, arterial blood vessels, and pancreas.
- These inclusions exhibited a characteristic multilamellar membranous system structure, consistent with liquid-crystalline phases of phospholipid-water systems.
- The morphology of these inclusions in the heterozygotic female was comparable to that observed in homozygotic males, suggesting a conserved pathological mechanism.
Impact:
- Provides detailed ultrastructural insights into glycolipid deposition in Fabry disease, particularly in female heterozygotes.
- Highlights the utility of electron microscopy in characterizing lysosomal storage disorders.
- Contributes to understanding the pathognomonic features of Fabry disease across different genetic statuses.