Many women are out from treatment despite being eligible as they’re still not seen as patients at risk.2,3

New management and treatment recommendations developed by an international panel of Fabry disease experts highlight the importance of early treatment initiation in both male and female patients.4 This is also echoed in the consensus therapeutic goals established by a European panel of Fabry disease experts, which should be used in conjunction with the management and treatment recommendations.1,5

Organ-specific adjunctive therapies and enzyme replacement therapy (ERT) should be used early to delay or slow the progression of disease and prevent or treat the effects of organ damage on quality of life and long-term prognosis.1,4,5 Migalastat is a pharmacological chaperone that can also be used as an alternative to ERT in patients with amenable Fabry disease mutations.6,7 The aim of treatment should also be to reverse Fabry pathology and ultimately prolong survival.5

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ERT treatment initiation recommendations for female Fabry disease patients4,8

Ortiz et al. 2018.4,8

CNS, central nervous system; ERT, enzyme replacement therapy; α-Gal A, α-galactosidase A; GFR, glomerular filtration rate; GI, gastrointestinal; GL-3, globotriaosylceramide; MRI, magnetic resonance imaging; TIA, transient ischaemic attack; VUS, variant of unknown significance.

Fabry disease care should be individualised to the patient.5

Symptom presentation of Fabry disease varies between males, females and children, and between those with classic and later-onset disease.5 For optimum management of Fabry disease, an individualised approach to care is needed. To achieve this, a panel of European experts established detailed therapeutic goals for the heart, kidney, nervous system and other organ manifestations of Fabry disease.5

The expert panel concluded that medical care plans should include individualised patient therapeutic goals based on assessment and monitoring of affected organs.1,5 A balance between anticipated clinical benefits and potential therapy-related challenges will best optimise care and improve quality of life.5

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The patient management algorithm for Fabry disease, established by a European expert panel5

*Disease-specific treatment and/or concomitant therapies 
Adapted from Wanner C, et al. 2018.5

Multidisciplinary communication and regular monitoring are vital to the management of Fabry disease.1,4,5

As Fabry disease causes different organ complications, integrated multidisciplinary input is vital at all stages of disease management to create a comprehensive, individualised medical care plan.1,5 Therapeutic goals should be adjusted following interdisciplinary communication and regular monitoring.5

Monitoring helps to determine the appropriateness of treatment and risk of adverse outcomes, preventing stroke and other adverse events.5 Having a treatment plan and a care team in place monitoring patient health also provides psychological and quality of life benefits for patients.5

Recommended assessments and schedule for monitoring organ involvement in adult patients with Fabry disease

Adapted from Ortiz A et al. 2018.4

a Risk levels based on KDIGO 2012 chronic kidney disease classification scheme. Low risk, CKD Stage G1/2 A1; moderate risk, CKD stage G3a A1, G1/2 A2; high to very high-risk CKD Stage G4 or 5, G3b A1, G3 A3.10

CKD, chronic kidney disease; CT, computed tomography; ECG, electrocardiography; eGFR, estimated glomerular filtration rate; ENT, ear, nose, and throat; GFR, glomerular filtration rate; IENFD, intra-epidermal nerve fiber density; MRI, magnetic resonance imaging; TOF MRA, time-of-flight magnetic resonance angiography (head and neck).

Monitoring is particularly important for female Fabry disease patients.

As women with Fabry disease develop later-onset symptoms and may initially appear asymptomatic, regular monitoring and clinical vigilance are essential for female patients.8 Longer intervals between more complex organ assessments can be considered in asymptomatic female patients with a normal initial evaluation and/or favorable X-chromosome inactivation pattern.8


  1. Wanner C et al. Mol Genet Metab 2019; 126(3): 210–211.
  2. Barba-Romero MA and Pintos-Morell G. Int J Mol Sci 2016; 17(12): 1965. 
  3. Lenders M et al. Orphanet J Rare Dis. 2016; 11(1): 88.
  4. Ortiz A et al. Mol Genet Metab. 2018; 123(4): 416–427.
  5. Wanner C et al. 2018 Mol Genet Metab. 2018; 124(3): 189–203.
  6. Hughes D et al. J Med Genet. 2017; 54(4): 288–296. 
  7. Müntze J et al. Clin Pharmacol Ther. 2019; 105(5): 1224–1233.
  8. Ortiz A et al. Mol Genet Metab. 2018; 123(4): 416–427. Appendix H.
  9. Echevarria L et al. Clin Genet. 2016; 89(1): 44–54.
  10. KDIGO. Kidney Int. Suppl 2013; 3(1): 1–150.

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