Work Ability Assessment in a Patient with Wilson's Disease

Abstract

Work Ability Assessment in a Patient with Wilson's DiseaseWilson's disease (WD) is a rare, progressive autosomal recessive disorder characterised by impaired transport and excessive accumulation of copper in the liver, brain, and other tissues. The disease is diagnosed based on clinical manifestations and screening tests results. Work ability assessment of patients with WD is based on the analysis of liver, kidney, neurological, and cognitive impairments, and takes into account patient's level of education.This article presents a case with a 48-year-old male patient, who was admitted for work ability assessment due to polymorphic symptoms. The patient had been working as a salesman for 28 years. A detailed interview and examination by occupational health and other medical specialists revealed that the patient had been suffering from Wilson's disease from the age of 13, and had now developed hepatic manifestations (compensated liver cirrhosis with portal hypertension), neurological manifestations (dystonia, dysarthria, muscle weakness, vertigo), and psychiatric manifestations (depression, insomnia, cognitive impairment) of the disease, including problems partially caused by long-lasting treatment with copper chelating agents (neurological and haematological manifestations). There were no ocular manifestations of Wilson's disease (Kayser-Fleischer rings or sunflower cataract).The patient was assessed as having drastically diminished general work ability, dominantly due to neurological and psychiatric impairments caused by Wilson's disease.

Copper and Zinc, Biological Role and Significance of Copper/Zinc Imbalance

“…Wilson's disease is a rare, progressive, autosomal recessive disorder characterised by impaired transport and excessive accumulation of copper in the liver, brain, and other tissues [152]. The condition is due to mutations in the Wilson disease protein of ATP7B gene (located on chromosome 13q14.3) [68], by impaired copper incorporation to ceruloplasmin and biliary copper excretion.…”

“…The condition is due to mutations in the Wilson disease protein of ATP7B gene (located on chromosome 13q14.3) [68], by impaired copper incorporation to ceruloplasmin and biliary copper excretion. It is characterisied by a hepatic cirrhosis, neurological manifestations (dystonia, dysarthria, muscle weakness, vertigo), psychiatric manifestations, renal disease, and copper deposition in the cornea -Kayser-Fleischer ring ( Figure 5) [53,54,152]. The treatment of Wilson's disease involves avoidance of foods rich in copper and any supplements containing copper and drug treatment with chelating agents that remove the excess copper from the body (D-penicillamine, Zn acetate) [153].…”

Dysexecutive Syndrome in a Patient with Wilson’s Disease

“…Schmitt et al (2011), in a 40 years follow-up study with 36 patients diagnosed with WD reported that 25% of the patients had neuropsychiatric manifestations where the common symptoms were attention deficit, changes in personality, irritability and hypersomnia. Other studies attribute the changes in mood and personality to a dopamine deficit present in the disease (Litwin, Gromadzka, Członkowska, Poniatowska, & Poniatowska, 2013;Günther, Villmann & Hermann, 2011;Schmitt et al, 2011;Popević, Kisić, Đukić, & Bulat, 2011;Hegde, Sinha, Taly, & Vasudev, 2010).…”