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Early Diagnosis of Wilson's Disease: Differentiating from Chronic Hepatitis and Recognizing Neurological Symptoms

Medical consultation in a modern hospital: a Hispanic physician in his 40s carefully reviews the medical history of a young Hispanic patient. On the desk, liver function test results and medical books are visible. An anatomical poster of the liver on the wall highlights the typical copper accumulation associated with Wilson's disease, emphasizing the importance of recognizing Kayser-Fleischer rings and ceruloplasmin levels in the differentiation of chronic hepatitis and neurological symptoms.

Wilson's disease is a rare hereditary disorder that affects copper metabolism, leading to its accumulation in the liver and brain. This accumulation can result in a variety of hepatic, neurological, and psychiatric symptoms, complicating early diagnosis. Early identification is crucial, as timely treatment can prevent clinical deterioration and improve patient life expectancy. In this context, it is essential to differentiate Wilson's disease from other chronic hepatic pathologies to avoid misdiagnoses and delays in treatment.

Diving Deeper into the Diagnosis of Wilson's Disease

The diagnosis of Wilson's disease is based on a combination of clinical, biochemical, and molecular markers. The presence of the Kayser-Fleischer ring, an ophthalmological feature due to copper deposition in the Descemet membrane, is an important but not exclusive indicator of this disease, as it can appear in other hepatic conditions [18626182]. Measurement of ceruloplasmin levels in serum, which are typically decreased in these patients, along with urinary copper excretion, are key diagnostic tests [20127637].

Wilson's disease can present with neurological symptoms such as tremors, dystonia, and parkinsonism, which may lead to diagnostic confusion with other neurological disorders [33474589]. Additionally, magnetic resonance imaging may reveal distinctive patterns of metal deposition in the brain, aiding in its differentiation from other early-onset extrapyramidal diseases [20437536].

Conclusions

The differentiation of chronic hepatitis and other hepatic pathologies is fundamental in the diagnosis of Wilson's disease. Early identification and appropriate treatment can prevent progressive and irreversible damage. It is essential for physicians to maintain a high index of suspicion in young patients with unexplained hepatic or neurological symptoms and to consider Wilson's disease in their differential diagnosis [38811021].

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Created 13/1/2025