DISEASE MANAGEMENT
STRIVING FOR ORGAN PROTECTION
20 years of treatment for Fabry disease
An interactive video experience
INTRODUCING
PATIENT-CENTRIC DISEASE MANAGEMENT
A multidisciplinary approach to treatment of Fabry disease is recommended.
Fabry disease is a progressive and multisystemic condition, for which a multidisciplinary approach to treatment is recommended.1,2Disease-specific therapies, if indicated, may be combined with symptomatic treatments to manage the complications associated with Fabry disease.2Support 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.7The 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.
STRIVING FOR ORGAN PROTECTION
Elearning
SUPPORTING FAMILY CONVERSATIONS:
Family screening for Fabry disease
Family screening is a process to identify any family members at risk of Fabry disease and involves plotting the patient's family tree.
Brochure
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Genetic considerations and pedigree analysis for diagnosis
Following a diagnosis of Fabry disease, it is recommended that a thorough pedigree analysis is performed for each patient to identify any family members at risk of the disease.
Brochure
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Renal considerations for diagnosis
Renal manifestations occur early in the disease course; therefore, nephrologists are recommended to maintain an awareness of Fabry disease.
Brochure
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Neurological considerations for diagnosis
Neurologists can aid an early diagnosis of Fabry disease and document neurological involvement associated with the disease.
Brochure
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Cardiac considerations for diagnosis
Due to the high prevalence of cardiac involvement in patients with Fabry disease, cardiologists are vital in the screening and diagnosis of the disease. Cardiologists are recommended to maintain an awareness of Fabry disease.
DISEASE MANAGEMENT
Management of Fabry disease
How should Fabry disease be managed clinically?
It is recommended that Fabry disease-specific and non-specific symptomatic treatments should be optimised to prevent, minimise or control symptoms.
DISEASE MANAGEMENT
Symptomatic management of Fabry disease
Can the manifestations of Fabry disease be managed symptomatically?
Optimal management of Fabry disease can include symptomatic treatment in conjunction with disease-specific therapy, if indicated.
DISEASE MANAGEMENT
Support and counselling for Fabry disease
Should patients with Fabry disease receive support and counselling?
Support and counselling is recommended throughout the process of diagnosis, investigation and therapy for patients with Fabry disease and their families.
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