Fabry's disease laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Overview

An reduced concentration of serum Alpha-galactosidase A level or its activity is diagnostic of Fabry's disease. Other laboratory findings can be vary due to the organ involvement.

Laboratory Findings

• Blood tests
  • Anemia
  • Serum creatinine may be raised from chronic renal failure
  • Serum urea may be elevated
  • BUN may be raised
  • Electrolyte disturbance maybe presented due to renal failure
• Urinalysis:
  • Hematuria
  • Proteinuria
  • Mulberry bodies (distal epithelial cell+ globotriaosylceramide accumulation)
• Enzymatic analysis
  • Drop activity of Alpha-galactosidase A activity (in male (hemizygote) patients, is not reliable in female and heterozygotes)
• Elevated of Gb3 concentration in plasma or leukocytes

Genetic Testing

• Detection of GLA gene mutation [ After recognition of dropped Alpha-galactosidase A activity in male patients, First place after suspected in females]