BACKGROUND: Wilson's disease (W.D.) is a metabolic disorder that occurs predominantly in children, adolescents, young adults and, rarely, in patients over 35 years. AIMS: In order to verify the prevalence of the clinical presentation of W.D. in adulthood, we analyzed a wide number of clinical presentation of W.D. with particular attention to the age of onset and to the evolutive stage of liver disease at presentation. PATIENTS: Our study is relative to 11 Sardinian adult subjects, aged 36-57 years, 6 males and 5 females, selected from a series of 120 patients affected by W.D. The only criterion utilized to select the patients was their age at presentation, with a cut off of 35 years. METHODS: Liver biopsies were routinely processed and stained with rhodanine, rubeanic acid, orcein and Timm's methods. On the basis of the histological picture, liver biopsies were subdivided into four evolutive stages: stage I = steatosis; stage II = interface hepatitis; stage III = bridging fibrosis; stage IV = cirrhosis. Molecular characterization of W.D. for gene mutations in the Sardinian population was performed in 7 out of 11 cases (-441/-427 del, 5' UTR and 3436 G > A Exon 16). RESULTS: 3 patients showed histological features of the first evolutive stage, 2 of the second, 1 of the third, and 5 of the fourth stage. Histochemistry for copper resulted positive in 9 of 11 cases at least with one of the four employed methods. In the seven patients in whom molecular characterization was perfomed, the gene mutation of W.D. was the same observed more frequently in the Sardinian population (-441/-427 del, 5'UTR). CONCLUSIONS: Our data show that: 1) W.D. with late onset is not rare in Sardinian population; 2) in spite of the late clinical presentation, W.D. may present in the first (3/10) and in the second evolutive stage (2/10) with mild to moderate changes of the liver architecture; 3) patients may show, at presentation, a severe liver disease, characterized by bridging fibrosis or cirrhosis; 4) from a practical point of view, we ask to consider the diagnosis the W.D. in all patients with chronic liver disease of unknown etiology, even if aged over 35 years.
Late onset Wilson's disease
PILLONI, LUCA;CONI, PIERPAOLO;DEMELIA, LUIGI;AMBU, ROSSANO;FAA, GAVINO
2004-01-01
Abstract
BACKGROUND: Wilson's disease (W.D.) is a metabolic disorder that occurs predominantly in children, adolescents, young adults and, rarely, in patients over 35 years. AIMS: In order to verify the prevalence of the clinical presentation of W.D. in adulthood, we analyzed a wide number of clinical presentation of W.D. with particular attention to the age of onset and to the evolutive stage of liver disease at presentation. PATIENTS: Our study is relative to 11 Sardinian adult subjects, aged 36-57 years, 6 males and 5 females, selected from a series of 120 patients affected by W.D. The only criterion utilized to select the patients was their age at presentation, with a cut off of 35 years. METHODS: Liver biopsies were routinely processed and stained with rhodanine, rubeanic acid, orcein and Timm's methods. On the basis of the histological picture, liver biopsies were subdivided into four evolutive stages: stage I = steatosis; stage II = interface hepatitis; stage III = bridging fibrosis; stage IV = cirrhosis. Molecular characterization of W.D. for gene mutations in the Sardinian population was performed in 7 out of 11 cases (-441/-427 del, 5' UTR and 3436 G > A Exon 16). RESULTS: 3 patients showed histological features of the first evolutive stage, 2 of the second, 1 of the third, and 5 of the fourth stage. Histochemistry for copper resulted positive in 9 of 11 cases at least with one of the four employed methods. In the seven patients in whom molecular characterization was perfomed, the gene mutation of W.D. was the same observed more frequently in the Sardinian population (-441/-427 del, 5'UTR). CONCLUSIONS: Our data show that: 1) W.D. with late onset is not rare in Sardinian population; 2) in spite of the late clinical presentation, W.D. may present in the first (3/10) and in the second evolutive stage (2/10) with mild to moderate changes of the liver architecture; 3) patients may show, at presentation, a severe liver disease, characterized by bridging fibrosis or cirrhosis; 4) from a practical point of view, we ask to consider the diagnosis the W.D. in all patients with chronic liver disease of unknown etiology, even if aged over 35 years.
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