# Rapidly progressive cognitive impairment resulting in heavy psychosocial burden in a patient with Fabry disease undergoing hemodialysis: a case report

## TL;DR

A man with Fabry disease undergoing hemodialysis experienced rapid cognitive decline, causing significant psychosocial challenges despite long-term enzyme replacement therapy.

## Contribution

Highlights the psychosocial burden of cognitive impairment in Fabry disease patients on hemodialysis.

## Key findings

- The patient showed progressive cognitive decline despite long-term enzyme replacement therapy.
- Behavioral issues and cognitive impairments required constant monitoring for safety.
- Cerebral infarctions and ischemic brain lesions were observed in brain imaging.

## Abstract

Long-term enzyme replacement therapy (ERT) may improve prognosis in the patients with Fabry disease (FD), however, detail psychosocial burden has not been focused on long life expectancy. We experienced a male case of FD under ERT, he was placed on hemodialysis and presented rapidly progressive cognitive function.

A 51-year-old male patient with FD has been receiving ERT from age of 38 years. Hemodialysis was initiated at the age of 47 years. The patient experienced several attacks of cerebral infarction, and brain images demonstrated wide-spread asymptomatic ischemic lesions. His behavior became problematic at the age of 51 years. He often exhibited restlessness during hemodialysis sessions and failure to communicate effectively. The patient experienced impairment of attention and executive function, topographical disorientation, and amnesia. Consequently, it was necessary for medical staff and family members to monitor his behavior for safe extracorporeal circulation and daily life activities. Annual standardized neuropsychiatric testing revealed worsening of cognitive performance.

Despite treating with long-term ERT, it is necessary to determine the psychosocial burden derived from the progression of cognitive impairment in patients with FD undergoing hemodialysis.