Chapter 13 - Other organ involvement and clinical aspects of Wilson disease

Abstract

Wilson disease (WD) is a rare disorder of copper metabolism that presents mainly with hepatic and neuropsychiatric features. Copper accumulates not only in the liver and brain, but also in other organs. Liver injury can also be the cause of secondary impairment of other tissues. Therefore, the clinical manifestation of WD may be renal, cardiac, skin, osteoarticular, or endocrinologic and include other organ disturbances. Renal abnormalities include tubular dysfunction (e.g., renal tubular acidosis, aminoaciduria) and nephrolithiasis. Bone demineralization is a common manifestation in patients with WD. Cardiac injury may include arrhythmia, cardiomyopathy, and autonomic dysfunction. Different endocrine system manifestations, such as infertility or repeated miscarriages, growth and puberty disturbances, and hypoparathyroidism, are observed. Other important clinical aspects of WD include pancreas involvement, immunologic abnormalities, the presence of lipomas, and skin changes. Although other organ involvement is not common in WD and usually not severe, delayed diagnosis may lead to irreversible changes in organs and tissues. Therefore, awareness of other possible WD presentations is important in the differential diagnosis of WD.