EPIDEMIOLOGY AND MANAGEMENT OF ADRENOLEUKODYSTROPHY: A COMPARATIVE STUDY BETWEEN COUNTRIES

Abstract

Introduction: Adrenoleukodystrophy is a rare genetic disease linked to the X chromosome that affects almost exclusively males, with an incidence of 1:15,000 to 25,000 worldwide. The symptoms are diverse and nonspecific, which makes the identification of the condition challenging. Diagnosis is performed through the evaluation of serum levels of very-long-chain fatty acids, neuroimaging abnormalities of the central nervous system, and genetic testing. Although there is no cure, early diagnosis and hematopoietic stem cell transplantation can be valuable tools in providing patients with a relatively normal quality of life.Methodology:This study is an integrative review with a qualitative approach and categorical analysis, based on research related to adrenoleukodystrophy, public policies, epidemiology, early diagnosis, treatments, and newborn screening in national and international contexts.Results:A total of 10 articles that met the final inclusion criteria were selected. The analyzed studies showed significant global disparities in epidemiology, clinical variability, and clinical management.Conclusions:The global comparison between countries demonstrated how the presence of structured newborn screening programs directly influences early diagnosis. Countries such as the United States, Japan, and the Netherlands have established newborn screening programs with greater diagnostic effectiveness and better clinical outcomes. In contrast, countries lacking consolidated screening policies contribute to delayed diagnosis, which hinders clinical management and access to appropriate treatments. Early detection, combined with biomedical practices and clinical genetics, is essential to reduce clinical impacts and complications associated with the disease.