Fabry's disease classification: Difference between revisions
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==Classification== | ==Classification== | ||
===Based upon | ===Based upon [[Phenotypes]]=== | ||
{| class="wikitable" | {| class="wikitable" | ||
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<nowiki>*</nowiki>[[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. | <nowiki>*</nowiki>[[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 | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} |
Revision as of 19:50, 12 March 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
Based upon Phenotypes
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