[Systematic review on treatment adherence in people diagnosed with Inborn Errors of Metabolism and their families]

Abstract

Introduction: Inborn Errors of Metabolism (IEM) are rare diseases that affect multiple systems and require strict treatment adherence. However, maintaining adherence is a challenge that directly impacts the quality of life (QoL) of patients and their families.

Objective: To review treatment adherence in patients with IEM or their caregivers, considering its relationship with QoL. Methods: A systematic review was conducted in PubMed following PRISMA guidelines. Articles in English and Spanish published between 2013 and 2024 were included.

Results: Twenty-two studies were selected, most focused on phenylketonuria (PKU). The main barriers to adherence were lack of disease understanding, treatment burden and complexity, limited access to special foods and substitutes, economic impact, social stigma, and reduced adherence during adolescence and adulthood. Facilitators included family and social support, resilience, disease education, and home-based care. Adequate adherence was associated with better metabolic control, reduced neurological impact, and physical, emotional, and social benefits, while poor adherence negatively affected all QoL dimensions.

Conclusions: Treatment adherence in IEM is a complex process influenced by individual, family, social, and health system factors. Strengthening psychosocial and educational support, as well as improving access to resources, is essential to optimize adherence and QoL.