Table 4.
Patient-reported and other signs: guideline stipulations and PREDICT-FD consensus [11]
| Angiokeratoma | Organ biopsy | Non-pain GI symptoms | Sweating abnormalities or heat/exercise intolerance | Febrile crises | Patient-reported progression of symptoms/signs | |
|---|---|---|---|---|---|---|
| PREDICT-FDa [11] | + | + | + | + | + | + |
| EFWGb [1] | Diagnostic sign | – |
Aged < 16 years All, IIA Aged ≥ 16 years All, IIB |
|||
| Australia [24] | – | – | – | – | – | – |
| Canada [21] | Diagnostic sign | Diagnostic/prognostic | Allc | – | – | – |
| Catalonia (Spain) | – | – | – | – | – | – |
| Franced [23, 25] | Diagnostic sign | – | – | – | – | – |
| Portugal [22] | – | – | All, recurrent diarrhea attributable to FD | All | – | – |
| Slovenia (FCGHSG) | Diagnostic sign | Confirmatory skin biopsy if needed in asymptomatic boys with classical disease | Postprandial diarrheae | Alle | – | – |
| Switzerlandf | – | – | F | – | – | – |
| UKg [26] | – | – | – | – | – | – |
Unpublished guidelines are summarized in Additional file 1: Table S1
aConsensus was reached that FD-specific treatment should be initiated at diagnosis in male patients aged 16 years or older who are asymptomatic for organ involvement, in boys younger than 16 years old with early indicators of organ involvement, and in all patients with guideline indicators of organ involvement
bRecommendations are based on class of evidence assigned: class I, treatment recommended or indicated; class IIA, treatment should be considered; class IIB, treatment may be considered; class III, treatment not recommended
cSignificant GI symptoms unresponsive to other measures for at least 6 months or associated with poor growth or significant reduction in quality of life
dAll male patients with a confirmed FD diagnosis should be offered ERT from age 18 years
eCentral and/or autonomic nervous system involvement consistent with FD
fERT is practically always indicated in men, even those with mild symptoms and low organ involvement, and in patients undergoing hemodialysis or with a kidney transplant
gFD-specific therapy should be considered in male patients with classical mutations at diagnosis; tabulated additional considerations apply to male and female patients with later-onset disease
+ , achieved consensus in PREDICT-FD; EFWG, European Fabry Working Group; ERT, enzyme replacement therapy; F, female patient(s); FCGHSG, Fabry Center, General Hospital Slovenj Gradec; FD, Fabry disease; GI, gastrointestinal; M, male patient(s)