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Home / For clinicians / Diagnosis guides / Fabry disease / Checklist

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Suspect-and-test checklist

Fabry disease

X-linked lysosomal disease. Women can be affected, often with normal enzyme activity.

ICD-10-CME75.21Trial Friend for Clinicians

1Red flags present

Pain, sweat and gut

Skin, eyes and ears

Kidney

Heart and brain

Family

2Already labeled as

3Family to test

4Testing, in the order the sources describe

  1. Alpha-Gal A activity, plasma and leukocytesMales: deficient activity establishes the diagnosis. Assay both sample types.
    Result
  2. GLA gene sequencingFemales: the diagnostic test. Males: names the variant and rules out benign polymorphisms.
    Result
  3. Deletion/duplication analysis, such as MLPAWhen sequencing finds no variant; sequencing misses about 5%.
    Result
  4. Plasma lyso-Gb3Supporting biomarker only. A normal level does not exclude disease in a woman.
    Result
  5. VUS work-upFamily segregation, imaging and expert review. LVH with a VUS: endomyocardial biopsy is the Delphi gold standard.
    Result
  6. Amenability check before GalafoldAmenable GLA variant, interpreted as pathogenic or likely pathogenic by a genetics professional.
    Result

5Results the sources say do not rule it out

  • Normal enzyme activity in a woman. Up to one-third of affected females test normal or low-normal.
  • Leukocyte activity alone. Some variants, such as p.Asn215Ser, lower plasma activity more.
  • Corneal whorls on amiodarone or chloroquine can mimic Fabry; hydroxychloroquine can mimic it on biopsy.
  • p.D313Y and p.E66Q are described as polymorphisms; sources disagree on p.Ala143Thr.

6Specialists the sources name

Diagnosis code: E75.21 Fabry (-Anderson) diseaseCodes patients often carry before diagnosis are listed in the online guide.
Full guide and sourcesEvery point here is sourced in the online guide, which also has a patient note to print.
Trial Friend, trialfriend.com/for-clinicians. Key sources: GeneReviews (2024); French pediatric consensus (2019); European consensus on females (2025); Italian expert opinion on females (2025); Turkish multidisciplinary expert opinion (2022); European Heart Journal LVH review (2012); all 14 with links in the online guide. Checked November 8, 2026. A reference checklist for licensed clinicians that summarizes published sources. It is not a diagnostic tool, a score or a protocol, and it does not replace clinical judgment, local practice or the prescribing information. Not coding advice. Trial Friend never receives anything written or typed on this sheet. The author has done professional work for companies whose products are discussed in this article. No company reviewed, paid for or had any input into it.