We greatly appreciate Dr. Litwin, Dr. Antos, and Dr. Smolinski for their interest in our recent population‐based study on Wilson's disease 1 and for their insightful perspective.
We fully agree with the author's assessment that early diagnosis and timely treatment are crucial factors in improving the outcomes of patients with Wilson's disease.
The increased mortality observed among Wilson's disease patients presenting with neuropsychiatric conditions indeed warrants further exploration. 1 While our study was not primarily designed to investigate the underlying causes of this finding, it undeniably paves the way for intriguing avenues of future research. It is worth noting that a neuropsychiatric presentation in Wilson's disease has previously been associated with diagnostic delays and late‐onset disease. 2 , 3 However, even in the late‐onset cases with neurological presentation, the majority of patients improve clinically with treatment. 2 While it is standard practice to consider Wilson's disease in the diagnostic evaluation of acute and chronic liver diseases, the same level of suspicion may not always extend to patients presenting with diverse neuropsychiatric symptoms without obvious liver abnormalities. This underscores the need for clear guidelines on when to suspect Wilson's disease in the diagnostic evaluation of especially adult patients presenting with neuropsychiatric symptoms. The challenge is to increase awareness and improve the recognition of atypical symptoms, in order achieve an earlier diagnosis and ultimately improve outcomes for individuals affected by this rare disease.
CONFLICT OF INTEREST STATEMENT
The authors declare no conflicts of interest.
ACKNOWLEDGEMENT
No specific funding was obtained for this study.
DATA AVAILABILITY STATEMENT
The letter does not contain any new data.
REFERENCES
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
The letter does not contain any new data.