Autoantibodies in Wilson disease: Impact on clinical course

Abstract

Symptoms of Wilson disease (WD) vary and additional factors such as autoimmunity may play an important role in WD pathogenesis. The presence of antinuclear antibodies (ANA), anti‐neutrophil cytoplasmic antibodies, neuronal surface antibodies, and onconeural antibodies in WD was investigated using standardized indirect immunofluorescence assays and Western Blot analysis. The presence of all studied autoantibodies was higher in WD patients in comparison to healthy subjects, but there was no statistically significant difference in autoantibodies frequency according to disease manifestation. D‐penicillamine treatment was associated with a higher presence of ANA than zinc sulfate but without an increase in autoimmune diseases rate.

Systemic lupus erythematosus combined with Wilson’s disease: a case report and literature review

“…These include ANAs, antiphospholipid antibodies and, rarely, even anti-double-stranded DNA [ 17 , 18 ]. Antczak-Kowalska M et al reported that the presence of all studied autoantibodies was greater in WD patients than in healthy individuals [ 19 ]. The role of autoantibodies in the pathogenesis of WD is unclear but may be related to a bystander phenomenon.…”

D-Penicillamine-Induced Myasthenia Gravis—A Probable Complication of Wilson’s Disease Treatment—A Case Report and Systematic Review of the Literature

“…However, rarely, ocular manifestations with symmetrical ophthalmoparesis (especially horizontal gaze paresis) and rapid-remitting diplopia may occur. In the AChR-Ab MG group, late onset (>50 years of age) is seen most frequently in men, with variable symptoms, including ocular manifestation (diplopia, symmetrical ptosis) and good response to acetylcholinesterase inhibitors (pyridostigmine) [ 16 , 34 , 35 ]. Hence, based on these observations, the phenotype of MG in our patient seems to be related to AChR-Abs, but the presence of both Abs supports us to diagnose the general autoimmune reaction caused by DPA treatment [ 35 , 36 , 37 , 38 ].…”

“…In the AChR-Ab MG group, late onset (>50 years of age) is seen most frequently in men, with variable symptoms, including ocular manifestation (diplopia, symmetrical ptosis) and good response to acetylcholinesterase inhibitors (pyridostigmine) [ 16 , 34 , 35 ]. Hence, based on these observations, the phenotype of MG in our patient seems to be related to AChR-Abs, but the presence of both Abs supports us to diagnose the general autoimmune reaction caused by DPA treatment [ 35 , 36 , 37 , 38 ]. However, in the literature, cases of DPA-induced MG without Abs against AChR and MuSK are also described (up to 20% of cases) [ 16 , 18 , 27 ].…”

“…Apart from the etiology of DPA-induced MG described above, it has been proven that DPA may modulate inflammatory processes including reducing the number of T-lymphocytes, triggering the synthesis of autoantibodies and activating macrophage functions since DPA binding to the aldehyde group on macrophages may lead to their activation. Furthermore, this can lead to decreasing serum levels of interleukin-1 and rheumatoid factor, increasing serum levels of interleukin-6, 13, 15, and 23, tumor necrosis factor-alfa, interferon-gamma, and the activation of natural killer cells, which may commonly lead to autoimmunity and autoimmune complications of DPA treatment [ 9 , 35 , 36 , 37 , 38 , 39 ].…”

“…In a study performed by Seessle et al, 2.6% of the analyzed WD patients developed an autoimmune disease during treatment with DPA [ 36 ]. However, data about antinuclear antibodies in WD according to the type of treatment are conflicting [ 35 , 36 ].…”