Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation.
Victoria Viteri, Maria F Parada, Ellery R Santos et al.
✦ AI-curated · Sources linked
Case in brief
A man in his mid-60s with Fragile X-associated tremor/ataxia syndrome (FXTAS) and 88 CGG repeats in FMR1 developed autoimmune hepatitis, confirmed by biopsy, leading to liver transplantation. Post-transplant, he experienced complications from a bile duct leak but eventually stabilized. Neurologically, he showed improvement in ataxic symptoms and no longer experienced falls, despite prior significant decline.
What made this case unusual
This case is notable for the occurrence of autoimmune hepatitis in a patient with FXTAS, suggesting a potential link between the FMR1 premutation and autoimmune diseases, which has not been previously reported.
Diagnostic / clinical pearl
Clinicians should be aware of the potential for autoimmune complications, such as autoimmune hepatitis, in patients with Fragile X-associated tremor/ataxia syndrome.
Why it matters
This case underscores the need for careful monitoring of autoimmune conditions in carriers of the FMR1 premutation, expanding the understanding of FXTAS beyond its neurodegenerative aspects.