OBJECTIVES: Wilson disease (WD) is a genetic disorder characterized by progressive accumulation of copper in various body tissues. Notable complications due to the accumulation of copper include liver cirrhosis, psychiatric and neurologic disease, and affected function of other organs, such as the heart and kidneys. Treatment for WD involves use of agents that chelate and remove copper or block its absorption. This retrospective cohort study investigated the most common chronic comorbidities in adults with WD.

METHODS: PearlDiver claims database with Mariner data set was searched for patients aged ≥18 years (at first included record) with WD (ICD-10-D-E8301) and ≥12 months continuous enrollment in insurance between October 2015 and December 2019. Comorbidities related to WD were identified via ICD-10 diagnosis codes. Related codes were grouped and accuracy was confirmed by clinical experts.

RESULTS: Overall, 3,242 patients were included (female, 53.8%), with mean insurance enrollment duration of 3.35 years. Hepatic comorbidities occurred in 44.0% of patients: ascites/edema (21.4%), liver cirrhosis (20.4%), fatty liver (19.6%), portal hypertension/varices (11.8%), and hepatic failure (11.4%). Additionally, during the study period, 9.0% of patients received or had a history of liver transplant. Psychiatric disturbances occurred in 53.2% of patients: anxiety (34.0%), depression (31.9%), insomnia (14.3%), mood disorder (11.3%), encephalopathy (9.6%), and schizophrenia (6.3%). Additional comorbidities included pain (70.5%), renal (66.6%), neurologic (55.0%), and cardiac (28.8%) complications. Nearly all (96.3%) patients experienced one or more hepatic, psychiatric, neurologic, renal, cardiac, or pain complications.

CONCLUSIONS: Despite available treatments, WD is associated with comorbidities that impact physical and mental health. The majority of patients with WD experienced one or more hepatic, renal, cardiac, psychiatric, or neurologic complications. A noteworthy proportion was also diagnosed with pain. This study demonstrates the broad array of complications experienced by patients with WD and the need for better treatment options.