Fabry Disease

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

X-linked enzyme deficiency of alpha-galactosidase A (a-Gal-A) causing buildup of glycolipids (globotriaosylceramide); has a severe form (Type 1) and a late-onset form (Type 2)

Common symptoms

Type 1: childhood onset of angiokeratomasanhidrosisepisodic paresthesiasGI pain/crampinghypertrophic cardiomyopathyproteinuria/renal failurestrokes/TIAs. Type 2: primarily cardiomyopathy and proteinuria/renal failure

When to suspect

  • Recommendation 1

    Males

  • Recommendation 2

    serum a-Gal-a activity test (available here)

  • Recommendation 3

    confirm with GLA gene sequencing (available here). Females

  • Recommendation 4

    GLA gene sequencing (activity test not recommended).

How to test

  • Recommendation 1

    Males

  • Recommendation 2

    serum a-Gal-a activity test (available here)

  • Recommendation 3

    confirm with GLA gene sequencing (available here). Females

  • Recommendation 4

    GLA gene sequencing (activity test not recommended).

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    Enzyme replacement therapy (Fabrazyme) improves symptoms and slows disease progression

  • Recommendation 2

    chaperone therapy (migalastat) to enhance endogenous enzyme in certain variants. Payment assistance info listed here.

Primary care

  • Recommendation 1

    ERT treatment as soon as possible to reduce risk of irreverisble organ damage. Multidisciplinary monitoring of major organ systems . Support organization

  • Recommendation 2

    National Fabry Disease Foundation.

Further support

  • Recommendation 1

    Patients need a multidisciplinary care team and should be referred to a large center with a Fabry Disease team

  • Recommendation 2

    the National Fabry Disease Foundation has a list.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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