Enhancing quality and improving outcomes: patient-first approach in Fabry disease

• Understanding Nonadherence:

Medication nonadherence is a common and complex issue, affecting 40-50% of patients with chronic conditions. It is important to emphasize that nonadherence is not just a patient problem but a systemic and public health problem.¹ 

• Factors Affecting Adherence:

Key factors include motivation, health literacy, cost, time constraints, alternative belief systems, treatment of 
asymptomatic disease, poor provider-patient relationship, inconvenience, depression, denial, cognitive impairment, substance use, treatment 
complexity, side effects, and cultural issues.¹ 

• Strategies for Improving Adherence:

A multi-faceted approach is needed, including better physician-patient communication, shared decision- 
making, and team-based care. The importance of using open-ended, non- judgmental questions to assess adherence is emphasized.^1,2,3

• Patient-Centric Approaches in Fabry Disease:

It is important to implement personalized care, considering factors such as disease phenotype, 
sex, age, and X-chromosome inactivation patterns in females. Treatment should be tailored to each patient's unique circumstances.^4-9 

• Early Treatment in Children:

There is evidence supporting early initiation of ERT in children with classic Fabry disease, even before the onset of 
symptoms. This approach aims to normalize biomarkers and potentially prevent disease progression.^5,6 

• Monitoring and Follow-Up:

Regular monitoring and follow-up for both treated and untreated patients is crucial. PROs can be used to complement 
clinical assessments and tailor follow-up schedules based on age and phenotype.^7,10-13 

• Therapeutic Goals and Treatment Evaluation:

It is important to establish clear therapeutic goals and criteria for switching therapies. Biomarkers such 
as lyso-Gb3 should be reduced as much as possible, particularly in classic 
males with no residual enzyme activity.^7,14-17

• Incorporating PROs:

Validated tools for assessing PROs may provide valuable insights into the patient’s QoL and symptom burden. PROs 
should be tailored to age, phenotype, and specific symptoms to ensure a comprehensive assessment and effective management.^7,10-13

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The best understanding of the reasons for nonadherence will come from the patients with Fabry disease themselves—either from discussions 
with individual patients or with focus groups. 
Patients should be provided the opportunity to share their lived 
experiences with Fabry disease.