What are the classic early features of Fabry disease?

Classic early features include acroparesthesias (burning pain in hands and feet), anhidrosis, angiokeratomas (dark red skin lesions in the bathing suit distribution), and cornea verticillata on slit-lamp examination.

Why is early Fabry disease diagnosis important?

Enzyme replacement therapy (agalsidase beta or alfa) is most effective when started before irreversible end-organ damage. Undiagnosed Fabry disease leads to progressive cardiomyopathy, renal failure, and stroke.

Fabry Disease Screening Score

Estimate likelihood of Fabry disease using neuropathic pain, acroparesthesias, angiokeratoma, cornea verticillata, and family history criteria.

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Frequently Asked Questions

What are the classic early features of Fabry disease?

Why is early Fabry disease diagnosis important?