Objective: To identify the incidence and morbidity rates of hepatolenticular degeneration (HLD) at Hanshan County, Anhui Province.
Methods: According to the principles of age stratification, cluster and random sampling, a total of 112 810 subjects were screened by cornea slit-lamp examination during the period of November 2008 to October 2009. The subjects were from recruited from schools, factories, communities, institutions and villages at Hanshan County. And they belonged to the age group of 7 - 75 years. At the same time, each subject was evaluated by the clinical examination with regards to the presence of such clinical manifestations as brain, liver, kidney, skin and other organ damage. And the examinations of copper biochemistry and abdominal ultrasound were performed for those subjects with K-F rings or their clinical manifestations suspicious of HLD. In order to confirm or exclude HLD, the penicillamine challenge test (PCT) was performed if necessary.
Results: Seven HLD patients had a definite diagnosis of HLD. There were classical Wilson type (n = 1), pseudosclerosis type (n = 1), mental disorder type (n = 1), liver type (n = 1) and presymptomatic (n = 3). The incidence rate was 2.66/100 000 and the prevalence rate 6.21/100 000 at Hanshan County, Anhui Province.
Conclusion: HLD is a common disease. In order to avoid a misdiagnosis and prevent an incorrect treatment, physicians should pay more attention to this curable disease and try their best to achieve early detection, early diagnosis and early treatment.