Publication:

Natural history and outcome of patients with Wilson’s disease from a tertiary care hospital in Odisha

Background Wilson’s disease (WD) is a rare autosomal recessive disorder of defected copper metabolism in the liver. Excessive copper deposition causes oxidative stress, impaired mitochondrial function, and eventually leads to hepatic, neurologic, renal, and other organ dysfunction. Diagnosis of WD can be challenging due to its rarity, highly variable clinical manifestations, and non-specific diagnostic tests that are currently available.

Methods It was a prospective observational study carried out in tertiary care hospital in Odisha during the period of 18 months. All the patients were subjected to a detail general and systemic examination as per the standard protocol. The past history of hepatic or psychiatric illness and family history of similar illness were taken from all patients. An ophthalmological examination for the presence of Kayser-Fleischer ring was carried out by examination with naked eye and by slit lamp evaluation.

Results Of the 28 patients with Wilson’s disease, 18% patients had history of consanguineous parentage and they had significantly younger age at onset than patients without history of consanguineous parentage. Out of 11 patients who had family history of Wilson’s disease, 2 patients had death of sibling due to the disease.

Conclusions It has been concluded from the study that features of chronic liver disease were the commonest manifestation of Wilson’s disease. Screening of all asymptomatic siblings for Wilson’s disease is a very important issue and must be carried out in all. Early and correct diagnosis and institution of proper treatment and lifelong continuation can prevent devastating consequences as the disease is treatable.