Objectives: Here, we reported our experience over 28 years with 133 cases of patients with Wilson's disease (WD) in order to illustrate the diverse clinical presentation and to improve understanding and early diagnosis of WD.
Methods: We reviewed the medical records of patients with WD at Shengjing Hospital of China Medical University from 1993 to 2011. The clinical manifestations and laboratory findings were analyzed. The diagnosis was based on the presence of Kayser-Fleisher (K-F) rings, low serum copper levels, low serum ceruloplasmin levels, increased urinary copper concentrations before or after penicillamine challenge.
Results: Among them, 93 patients mainly presented with hepatic manifestations, 27 with neural abnormalities, and 13 presented with others. Age range at diagnosis was wide (3-74 years, average 13·2 years), and five patients were over 40 years. The oldest one was aged 74 years and presented with neuropsychiatric disorder. The positive rate of K-F rings was 93·0%. The serum ceruloplasmin decreased in 83·6% patients, 24-hour urinary copper increased in 88·1% patients, and serum copper decreased in 68·9% patients. About 79·7% of patients were diagnosed within 6 months, but only 33·1% were diagnosed at their initial medical consultation. There was a substantial delay of up to 15 years.
Conclusions: The clinical manifestation of WD is very diverse and no one feature is completely reliable. Doctors in many fields have opportunities to encounter this disease, and the most important thing is to be aware of the possibility of WD.
Keywords: Clinical manifestations,; Kayser–Fleischer rings; Wilson’s disease,.