Wilson's disease: diagnostic errors and clinical implications

Abstract

Background: Therapeutic outcome of Wilson's disease (WD) significantly depends upon its early recognition. However, because of its rarity in community and protean manifestations, the diagnosis and treatment are often delayed.

Aim: To ascertain diagnostic errors at initial evaluation in these patients.

Methods: Analysis of medical records of 307 patients of WD registered over 30 years was done regarding presenting manifestations, initial diagnostic omissions, and interval between onset of symptoms to diagnosis and treatment.

Results: Of the 307 patients of WD diagnostic errors by referring doctors from different specialties of health care were detected in 192 patients. These were diverse and multiple and included schizophrenia, juvenile polyarthritis, rheumatic chorea, nephrotic syndrome, metachromatic leucodystrophy, congenital myopathies, subacute sclerosing panencephalitis, neurodegenerative disease among others. The mean (SD) delay was two (three) years (range: 0.08-30 years). Some of the interventions before establishment of correct diagnosis were electroconvulsive therapy, thalamotomy, antipsychotics, and surgical correction for bony deformity. While 98 patients were referred with correct diagnosis, only 16 were given specific treatment.

Conclusion: Awareness among health professionals about varied presenting features of WD and high index of suspicion may have prognostic implications.