DIAGNOSING FABRY DISEASE IN CLINICAL PRACTICE
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Clinical Manifestations of FD
Classical FD (<3% enzyme activity)
 | 2nd decade |  | Symptoms appear later. |  | Neuropathic pain, angiokeratomas, and/or cornea verticillata are absent in females. |
 | Childhood and adolescence |
 | Neuropathic pain |
 | Hypohidrosis and hyperhidrosis |
 | Febrile crisis |
 | Eye involvement* |
 | Hearing loss |
 | Angiokeratoma |
 | Microalbuminuria |
 | GI symptoms |
 | 2nd decade |
 | Cardiomyopathy |
 | Stroke and TIA |
 | Macroproteinuria and eGFR loss |
 | From 3rd decade |
 | Progressive organ damage |
 | Organ failure |
 | Premature death |
 | 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 |
 | FD diagnosis requires a multidisciplinary team approach involving: |
| Biochemist | Pediatrician | Neurologist | Cardiologist | Dermatologist | Nephrologist | Geneticist |
 | Suggested diagnostic algorithm for patient with clinically suspected FD |
 | Testing for FD |
1. Lyso-Gb3 indicates severity of FD
2. Endomyocardial and renal biopsies are used
3. Genetic testing
 | Testing for FD
|
 | LSD referral centers to manage FD from diagnosis to long-term follow-up |
 | FD: | 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.
