Fabry's disease laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

An reduced concentration of serum Alpha-galactosidase A activity or its activity is diagnostic of Fabry's disease.

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]