AUTHOR=Yu Minling , Ren Linxiang , Zheng Muxin , Hong Mingfan , Wei Zhisheng 

TITLE=Delayed Diagnosis of Wilson's Disease Report From 179 Newly Diagnosed Cases in China

JOURNAL=Frontiers in Neurology

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.884840

DOI=10.3389/fneur.2022.884840

ISSN=1664-2295

ABSTRACT=Objective: To analyze the initial symptom and the cause of misdiagnosis of Wilson’s Disease (WD), so as to enhance awareness of this condition and reduce diagnostic errors. Methods: The clinical data of 179 patients with the confirmed diagnosis of WD who were hospitalized in the First Affiliated Hospital of Guangdong Pharmaceutical University from October 2014 to September 2021 were analyzed. Those patients who had attended two or more than two hospitals and had been misdiagnosed as other diseases or failed to get a clear diagnosis for 3 months and over before hospitalization were included in the group of clinical misdiagnosis or the group without a definite diagnosis. Results: 129 cases (72.1%) were misdiagnosed, 39 cases (21.8%) failed to be diagnosed as a specific disease, only 11 cases (6.2%) had been diagnosed as WD within 3 months at the early state of the disease. WD was easily masqueraded as a variety of diseases, including all types of hepatitis, cirrhosis, splenomegaly, hepatomegaly, encephalitis, encephalopathy, peripheral neuropathy, psychosis, osteoarthrosis, nephrosis, anemia and other illnesses. Conclusion: WD is prone to long-term misdiagnosis or unclear diagnosis. Early diagnosis and treatment are the most important determinations of the prognosis. Therefore, when facing doubtful WD patients, it is valued to perform Kayser–Fleischer ring, copper metabolism, imaging examination, genetic tests, and radioactive copper test if necessary.