The presence of splenomegaly at diagnosis, hepatic signs, and neurologic symptoms appear to be the most important factor impacting the performance of activities of daily living (ADL) in patients with Wilson disease (WD), according to a recently published study in the Journal of Inherited Metabolic Disease.
Early diagnosis and the timely administration of appropriate treatment are vital to improving the survival and quality of life of patients with WD, the researchers noted. Although the mortality of the condition has been well studied, there is scarce research regarding the living conditions or ADL of these patients; furthermore, research concerning the factors that impact ADL is practically nonexistent, they added.
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“Thus, this study aimed to examine factors related to ADL in patients with WD using data from a third national survey conducted in 2015–2016 and data from our institution,” the authors wrote.
The study excluded presymptomatic cases, cases missing information on ADL, and those who did not want to participate. The survey was scored using a 5 point scale in which 1 meant no change in ADL, 2 when there was a decrease in ADL, 3 when the patient received partial caregiving, 4 meant full caregiving, and 5 meant hospital admission. The authors studied the correlation between several factors and ADL decline using the Poisson regression
Results showed that the median age of diagnosis of patients without ADL decline was 10 while that of patients with ADL decline was 15. Over 30% of patients had some form of ADL decline. Over 24% of patients with ADL decline had hepatic symptoms and splenomegaly at diagnosis compared with 12% of patients with no ADL decline. Regarding neurologic and psychiatric symptoms, the authors observed that they were present in 18% of patients with ADL decline at diagnosis and 2% of patients without ADL decline.
“It may be necessary to carefully assess patients with WD for neurological signs or hepatic symptoms with splenomegaly at initial diagnosis,” the study team concluded.
Amemiya A, Asakura K, Nishiwaki Y, Shimizu N. Factors affecting activities of daily living among patients with Wilson disease. J Inherit Metab Dis. Published online May 19, 2023. doi:10.1002/jimd.12634