Case highlights need to monitor psychological burden in Fabry
Despite treatment, patient's multiple strokes led to cognitive, other issues
Despite long-term use of enzyme replacement therapy (ERT), a man with Fabry disease in Japan had multiple strokes that led to rapidly worsening cognitive function and psychological issues, according to a case report that illustrates the psychosocial burden that patients may experience.
The patient’s worsening cognitive issues made it difficult for healthcare providers to perform dialysis — which he needed for kidney problems — and the man gradually became depressed and lost interest in all aspects of life.
The researchers believe the man’s case highlights the importance of monitoring for neurological involvement in Fabry and the psychological burden that comes with it.
“We need to pay attention to the psychosocial burden derived from the progression of cognitive impairment in patients with [Fabry],” the team wrote, specifically noting the need to closely watch those undergoing hemodialysis.
Their study, “Rapidly progressive cognitive impairment resulting in heavy psychosocial burden in a patient with Fabry disease undergoing hemodialysis: a case report,” was published in BMC Nephrology.
Case adds to data on psychological burden that can occur in Fabry
The symptoms of Fabry disease arise due to a lack of a working alpha-galactosidase A (alpha-Gal A) enzyme that’s needed to break down certain fatty molecules, particularly globotriaosylceramide (Gb3), in cells. Those molecules subsequently accumulate and cause organ damage. As such, patients typically are treated with lifelong enzyme replacement therapy, or ERT for short, to provide their bodies with the missing enzyme.
Nervous system involvement is common in Fabry. As the disease progresses, Gb3 accumulates in blood vessels, leaving patients at an increased risk of stroke, where blood supply to the brain is interrupted due to vessel blockages or ruptures. This can damage brain tissue and contribute to declines in brain function.
Cognitive impairment and other neurological issues can substantially affect daily life function and life quality, but the psychosocial impacts of cognitive dysfunction in Fabry have not been well-studied.
This case report described a 51-year-old man with Fabry disease who had cognitive declines and a loss of daily life abilities over time after experiencing multiple strokes despite long-term use of ERT.
He had been diagnosed at age 37 and was started on treatment with the ERT agalsidase alfa (sold in Europe and Japan as Replagal). A number of the man’s family members also were affected by Fabry.
At age 42, the man experienced a stroke. His kidney function was also declining toward end-stage kidney failure, so he started on dialysis at age 47.
The next year, the man was experiencing recurrent strokes that progressed to the point where they caused permanent damage to his brain. He had numbness on the left side of his body, overactive reflexes, and cognitive changes.
Specifically, his communication, vocabulary, and comprehension skills declined. He became more stubborn and with low morale, leading him to voluntarily stop working, according to the report. At that point, his daily life was generally limited to activities within his own home.
After experiencing multiple issues, patient ‘tended to be a hermit’
Over the next few years, the man continued to receive dialysis at the researchers’ hospital, but showed signs of increasing cognitive problems. These concerns, which included confusion, disorientation, and attention issues, required special monitoring during his dialysis sessions.
For example, the man would interfere with the needle used for the procedure, pulling it out on one occasion. Another time, he was found wandering the town after his session and was unable to return home.
This gradually led the patient to become reclusive and depressed, and he was avoided by family members, according to the authors.
By age 51, the man had progressed to have severe dementia and worsening cognitive abilities, though MRI scans did not show signs of overt brain tissue loss.
The patient began receiving coverage from Japan’s Public Nursing Care Insurance program and was given residential care at a nursing home three times a week.
“Gradually, the patient did not show interest in any aspect of life,” the researchers wrote, noting that the man “tended to be a hermit and often complained regarding the awareness of his frustration in daily life.”
It is important to regularly check for ischemic changes [restricted blood flow] in the brain and monitor … cognitive function during the long-term observation of [Fabry disease].
The researchers believe the case report highlights the severe psychological burden that neurological issues can cause for patients and caregivers. To that end, the team emphasized the critical need for monitoring brain involvement in Fabry.
“It is important to regularly check for ischemic changes [restricted blood flow] in the brain and monitor … cognitive function during the long-term observation of [Fabry disease],” the researchers wrote.
The scientists noted that none of the man’s affected family members seemed to have problems with repeat strokes or related psychological problems. As such, they suggested that brain involvement in Fabry may be influenced by multiple factors beyond genetics.
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