Wilson's disease in southern Brazil: a 40-year follow-up study

Abstract

BACKGROUND:Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period.METHODS:Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome.RESULTS:Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%.CONCLUSION:This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival.

A Neglected Case of Wilson Disease

“…Only limited data are currently available about the detailed lipoprotein alterations in Wilson's disease and large cohorts for investigating the lipid metabolism in WD has not been done. In a recent study, the most apparent change was a lower serum cholesterol level in the patient with hepatic manifestations (4,10). However, in our case the alteration in lipid profile was consisted of high cholesterol and triglyceride.…”

“…Kayser-Fleischer rings which show copper accumulation in brain, are common in neurological WD (9) and are present in 95% of patients with neurological symptoms, 50-60% of patients without neurological symptoms and only 10% of asymptomatic siblings. (8) Although KayserFleischer rings and neurological abnormalities may not be present in most patients, it is believed that all patients have some degrees of hepatic dysfunction, which varies from acute and chronic hepatitis to cirrhosis and fulminant hepatic failure (6,8,10). Acute Wilsonian hepatitis is identical to other acute liver diseases caused by toxins or viruses.…”

Major depression caused by Wilson's disease

“…[1][2][3][4][5] It is caused by an autosomal recessive genetic alteration, located in chromosome 13, 1 and has an incidence of approximately 1 in every 30,000-40,000 births. 5 It generally manifests between the ages of 11 and 25 years, with hepatic symptoms, although other organs may be affected.…”

“…5 It generally manifests between the ages of 11 and 25 years, with hepatic symptoms, although other organs may be affected. 1 In 10% of cases, psychiatric disorders manifest concomitantly with the first symptoms and signs, 3,5 although they usually tend to appear later, and may present as anxiety, mood disorders, or full-blown psychosis. 5 The diagnosis can be made by a thorough history and positive liver biopsy.…”

Generalized Hyperpigmentation of Skin as an Atypical Presenting Feature in Wilson Disease

“…8,9 In a case series from Brazil, the authors found skin hyperpigmentation in 4 out of 36 cases (11.1%). 10 In another study done in Taiwan,the authors had reported hyperpigmentation of skin in 12 out of 20 patients (60%). Histopathological analysis of skin samples revealed increased melanin deposits whereas copper and iron content was not different from that in controls.…”