Case Report Shows Concomitant Case of Wilson Disease (WD) and Lupus Erythematosus

Shijiazhuang, China – A teenage girl was diagnosed with concomitant Wilson disease (WD) and systemic lupus erythematosus (SLE), according to a case report published in Frontiers in Pediatrics.

The 17-year-old patient was initially diagnosed with SLE following positive tests for lupus anticoagulant and antinuclear antibodies, along with pleural effusion, hypocomplementemia, and reduced platelet counts. She also had symptoms of decompensated liver cirrhosis, which is atypical of SLE, so additional testing was performed.

These additional investigations revealed high 24-hour urine copper levels along with Kayser-Fleischer rings, and low serum ceruloplasmin levels. Genetic analysis found a compound heterozygous mutation of the ATP7B gene. All of these symptoms confirmed a concomitant diagnosis of WD in addition to SLE.

“In patients with well-controlled SLE presenting with unexplained liver fibrosis, neurological involvement, or psychiatric symptoms, it is crucial to consider the possibility of WD. However, further studies are required to elucidate the underlying pathophysiological mechanisms,” the authors wrote.

The case report comes from Hebei General Hospital in China and features hepatic, neurological, and psychiatric manifestations. Concomitant WD and SLE cases are rare, with few instances reported in the literature. The rarity of the 2 diseases cooccurring can lead to difficulties in diagnosis since the diseases can have overlapping clinical symptoms.

“The cooccurrence of WD and SLE poses a significant diagnostic challenge, often leading to misdiagnosis and delayed diagnosis,” the authors wrote.

Another previously reported case from China also involved a young woman, and she also had overlapping hepatic, neurological, and psychiatric symptoms due to the 2 illnesses. This patient had massive hematuria and proteinuria combined with hypocomplementemia, fever, positive autoimmune antibody tests, evidence of Sjögren syndrome, and abnormal findings from lumbar puncture sampling.

While WD is an inherited disorder of copper metabolism, SLE is an autoimmune disorder that typically affects connective tissue throughout the body. The link between the 2 diseases is unknown, and further research should be performed to elucidate the connection between these 2 disorders.