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Atypical Fabry's disease presenting with cholesterol crystal embolization
Internal Medicine (Tokyo, Japan)
|August 12, 2000
Summary
This rare case highlights subclinical Fabry's disease coexisting with cholesterol crystal embolization, presenting as a pulmonary-renal syndrome. The patient's condition rapidly declined despite intensive treatment, leading to a fatal outcome.
Area of Science:
- Nephrology
- Genetics
- Pathology
Background:
- A 65-year-old man underwent surgery for an abdominal aortic aneurysm.
- Post-surgery, he developed pulmonary hemorrhage and worsening kidney function.
Observation:
- Despite treatments including corticosteroids and hemodialysis, the patient's condition deteriorated.
- Postmortem kidney examination revealed cholesterol clefts in arterioles and lamellar inclusion bodies.
Findings:
- The patient was diagnosed with Fabry's disease due to absent plasma alpha-galactosidase A activity.
- This case represents a rare instance of coexisting subclinical Fabry's disease and cholesterol crystal embolization.
Implications:
- The clinical presentation mimicked a pulmonary-renal syndrome, complicating diagnosis.
- This case underscores the importance of considering rare genetic disorders in complex clinical scenarios.