- Article
- Source: Campus Sanofi
- May 20, 2025
DIAGNOSING FABRY DISEASE IN CLINICAL PRACTICE
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Clinical Manifestations of FD
Classical FD (<3% enzyme activity)
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2nd decade
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Symptoms appear later.
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Neuropathic pain, angiokeratomas, and/or cornea verticillata are absent in females.
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Childhood and adolescence
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Neuropathic pain
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Hypohidrosis and hyperhidrosis
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Febrile crisis
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Eye involvement*
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Hearing loss
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Angiokeratoma
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Microalbuminuria
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GI symptoms
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2nd decade
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Cardiomyopathy
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Stroke and TIA
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Macroproteinuria and eGFR loss
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From 3rd decade
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Progressive organ damage
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Organ failure
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Premature death
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Nonclassical or late-onset FD (3%–30% enzyme activity) |
| Variable disease course and single organ involvement |
| Cardiac variant is common in late-onset FD |
| Identified in patients with stroke, renal failure, or cardiomyopathy |
| No neuropathic pain, angiokeratomas, and/or cornea verticillata |
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FD diagnosis requires a multidisciplinary team approach involving:
| Biochemist |
| Pediatrician |
| Neurologist |
| Cardiologist |
| Dermatologist |
| Nephrologist |
| Geneticist |
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Suggested diagnostic algorithm for patient with clinically suspected FD
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Testing for FD
1. Lyso-Gb3 indicates severity of FD
2. Endomyocardial and renal biopsies are used
3. Genetic testing
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Testing for FD
- Causative mutation
- Affected family members
- Eligibility for treatment with migalastat
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LSD referral centers to manage FD from diagnosis to long-term follow-up
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FD:
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Rare but underdiagnosed |
To be known and recognized by internal medicine physicians |
Early treatment can change the natural course of the disease. |
*Eye involvement includes cornea verticillata, tortuous retinal vessels, cataracts, and conjunctival lymphangiectasia.
Rare but To be known and recognized by underdiagnosed internal medicine physicians α-Gal A: Alpha-galactosidase; eGFR: Estimated glomerular filtration rate; GLA: α-Galactosidase A; FD: Fabry disease; GI: Gastrointestinal; LSD: Lysosomal storage disease; Lyso-Gb3: Globotriaosylsphingosine; TIA: Transient ischemic attack.
MAT-BH-2400131-V1-March 2024