Fabry's disease classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
Based upon Phenotype
| Age of onset | Severity | alpha-Gal A activity | |
|---|---|---|---|
| Classic | Childhood (mostly) | severe | no activity or<1% of the normal mean |
| Atypical (later onset) | Third to seventh decades | less severe | 2 to 30% of the normal mean |
*Heterozygous females can categorized in both groups based on the severity of the disease, from severe classic ones to less severe atypical and even no symptoms.
- Based upon complications
- Cardiac variant
- Renal variant
- Non-neuropathic form
- Neuropathic form
- Infantile form
- Juvenile form