Fabry Disease

Not Verified
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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).

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

Sources

No data available

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