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SO027

Neuropsychiatric symptoms in Fabry disease: a review of psychiatric clinical features, neuroimaging, and treatment

NEUROPSYCHIATRIC MANIFESTATIONS IN FABRY DISEASE: A REVIEW OF PSYCHIATRIC CLINICAL FEATURES, NEUROIMAGING, AND MANAGEMENT

Depression, anxiety, and cognitive impairment are common comorbidities in Fabry disease but remain underrecognized due to diagnostic delays, while psychotic symptoms are rare and predominantly secondary.

This study aims to clarify the undercharacterized neuropsychiatric profile of Fabry disease (FD), particularly the nature of psychotic symptoms. FD is an X-linked lysosomal storage disorder caused by GLA gene mutations and characterized by alpha-galactosidase A deficiency and globotriaosylceramide accumulation. Eight primary studies published between 2000 and 2025 were reviewed, evaluating the prevalence, clinical features, and pathophysiology of depression, chronic pain, and psychosis, as well as diagnostic approaches, neuroimaging findings, and treatment strategies, including enzyme replacement therapy (ERT). The poster highlights that depression has been reported in up to 60% of patients, that the typical diagnostic delay is 5 to 15 years, and that psychotic symptoms are rare. The pathophysiology of psychiatric symptoms is described as multifactorial, with a chain extending from GLA mutations to cerebrovascular/ischemic changes, then to chronic pain and psychosocial stress, and ultimately to neuropsychiatric symptoms. Neuroimaging findings suggest that structural brain changes may be associated with neuropathic pain and major depression, and that white matter lesions may contribute to cognitive symptoms. The clinical features section notes that depression is associated with pain, fatigue, and social withdrawal; that mood and anxiety disorders are common comorbidities; and that psychotic symptoms reflect secondary psychosis due to vascular or neurodegenerative changes rather than primary psychotic disorders. The authors emphasize that early screening and routine psychiatric assessment are essential, and that a multidisciplinary approach combining ERT, specialized pharmacotherapy, psychotherapy, and pain management is necessary to reduce disease burden and improve long-term quality of life.

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