Objective: To study the proportion and frequency of misdiagnosis of hepatolenticular degeneration (HLD), diseases easily confused with HLD, and the relation between misdiagnosis and curative effect so as to sum up experience and improve diagnosis.
Methods: 1 011 cases with the confirmed diagnosis of HLD who were hospitalized in the Hospital Affiliated to the Institute of Neurology, Anhui College of TCM from November 1993 to June 2000 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. Relevant data were analyzed.
Results: 516 cases (51.04%) were misdiagnosed, 193 cases (19.09%) failed to be diagnosed as a specific disease, only 302 cases (29.87%) had been diagnosed as HLD within 3 months after the onset. The 516 cases had been misdiagnosed as more than 100 different diseases, including all types of hepatitis, cirrhosis, splenomegaly, hepatomegaly, arthritis, nephritis, encephalitis, encephalopathy, psychosis, anaemia, and so on. The curative effect was much better in the group with early diagnosis than in the groups with misdiagnosis and without a clear diagnosis (P < 0.01).
Conclusion: HLD is often misdiagnosed as other diseases or fails to get a clear diagnosis. Early diagnosis and treatment without delay is critical to the prognosis. Patients with symptoms described in this article should be examined for the presence of corneal K-F ring and copper metabolism teat should be made when necessary.