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Table 3 Neurological signs: guideline stipulations and PREDICT-FD consensus [11]

From: Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?

 

White matter lesions

Neuropathic pain

Painful GI symptoms suggestive of neuropathy

Stroke/TIA

Sudden onset unilateral hearing loss

Acute ischemic optic neuropathy

Silent cerebral infarct on MRI

PREDICT-FDa [11]

–

 + 

 + 

 +b

No consensus

–

–

EFWGc [1]

All, IIB

All, IIAd

–

All, IIA

All, IIBe

–

–

Australia [24]

–

Allf

–

Allg

–

–

–

Canadah [21]

–i

–j

–

All

All

All

–

Catalonia (Spain)

–

Allk

–

Alll

–

–

–

Francem [23, 25]

–

Childrenn

 

F, children

F,o childrenp

–

–

Portugal [22]

All adults

All

Abdominal pain in children

All adults

All adults

–

All adults

Slovenia (FCGHSG)

Allq

All

Allr

Allq

–

–

–

Switzerlands

–

Ft

F

Fu

–

–

–

UKv [26]

–

Allw

Allw

–

–

–

–

  1. Unpublished guidelines are summarized in Additional file 1: Table S1
  2. 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
  3. bOriginally classified under “Other” [11]
  4. cRecommendations 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
  5. dIf neuropathic pain is controlled and does not interfere with activities of daily living, all classified as IIB
  6. eAge-adjusted hearing loss
  7. fUncontrolled chronic pain despite the use of maximum doses of appropriate analgesia and antiepileptic medications for peripheral neuropathy
  8. gIschemic vascular disease
  9. hTreatment initiated based on one criterion
  10. iClinical significance of imaging abnormalities (white matter lesions, vessel dolichoectasia, cerebral microbleeds) alone is unclear and not an indication for ERT
  11. jPain in isolation does not warrant ERT. A 12-month trial of ERT may be considered based on agreed outcomes (e.g. reduced need for analgesics, reduced school/work time lost, reduced hospital admission for pain crises)
  12. kChronic pain, uncontrolled with drugs, that alters quality of life
  13. lIschemic cardiopathy; imaged vascular ischemic lesions attributable to FD
  14. mAll male patients with a confirmed FD diagnosis should be offered ERT from age 18 years
  15. nMajor painful crises refractory to analgesic treatment with carbamazepine, diphenylhydantoin, gabapentin, amitryptiline in children aged 6–18 years
  16. oSevere cochlear damage
  17. pCochleo-vestibular involvement (hearing loss assessed by audiogram; vertigo of vestibular origin) in children aged 6–18 years
  18. qCentral and/or autonomic nervous system involvement consistent with FD
  19. rTreatment initiation in classical male patients and girls with abdominal pain and postprandial diarrhea; additional confirmation of disease progression required in adult cF and in both sexes with the late-onset phenotype
  20. sERT is practically always indicated in men, even those with mild symptoms and low organ involvement, and in patients undergoing hemodialysis or after kidney transplantation
  21. tTherapy-resistant pain
  22. uCerebrovascular manifestations (insult, transient ischemic attack); dizziness
  23. vFD-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
  24. wUncontrolled pain or GI symptoms requiring altered lifestyle or interfering with quality of life
  25.  + , achieved consensus in PREDICT-FD; cF, female patient(s) with classical disease; 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; MRI, magnetic resonance imaging; TIA, transient ischemic attack
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172