Fabry disease is a progressive and multisystemic condition, for which a multidisciplinary approach to treatment is recommended.1,2 Disease-specific therapies, if indicated, may be combined with symptomatic treatments to manage the complications associated with Fabry disease.2 Support and counselling is recommended throughout the process of diagnosis, investigation and therapy for patients and their families.3 The clinical manifestations of Fabry disease are variable between patients; therefore, treatment goals should be individualised.4
In terms of disease-specific treatment, two intravenous enzyme replacement therapies are available for patients with Fabry disease: agalsidase alfa and agalsidase beta.5,6 Additionally, one oral chaperone therapy, migalastat, is available for patients diagnosed with Fabry disease and who have an amenable variant.7 The availability of these treatments differs between countries. For further information, please consult your local prescribing information.
The following strategies can help optimise patient management of Fabry disease4:
- Choosing a treatment strategy that addresses all disease-related symptoms by combining disease-specific therapy, if indicated, with symptomatic treatments
- Understanding the underlying reasons that may cause differences in patients’ responses to treatment, and subsequently adjusting the treatment plan to improve outcomes
- Addressing any patient burden related to therapy and improving quality of life
- Ensuring interdisciplinary communication across healthcare specialities that manage different organ complications associated with Fabry disease
- Including a strategy to manage pain and any psychological issues, such as depression or anxiety.
C-ANPROM/INT/FAB/0017; Date of preparation: March 2021
- Vardarli I, Rischpler C, Herrmann K, et al. Diagnosis and screening of patients with Fabry disease. Ther Clin Risk Manag 2020; 16: 551-558.
- Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab 2018; 123: 416-427.
- Hughes DA, Evans S, Milligan A, et al. A multidisciplinary approach to the care of patients with Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, eds. Fabry Disease: Perspectives from 5 Years of FOS. Oxford, UK: Oxford PharmaGenesis, 2006.
- Wanner C, Arad M, Baron R, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab 2018; 124: 189-203.
- Shire Pharmaceuticals Ltd. Replagal® EU Summary of Product Characteristics. Last updated November 2020.
- Sanofi Genzyme. Fabrazyme® EU Summary of Product Characteristics. Last updated November 2020.
- Amicus Therapeutics Europe Ltd. Galafold® EU Summary of Product Characteristics. Last updated August 2020.