Diagnostic particularities in Wilson’s disease as related to age, sex and clinical presentation

Objective: Wilson’s disease (WD) is a genetic, autosomal recessive disorder, which affects the liver, brain and cornea. The condition is rare and it has various presentations, hence its diagnosis is difficult. We aimed to study different clinical presentations, their relation with age and sex and the influence of several factors on the diagnostic score (Leipzig score). Material and Methods: We analyzed retrospectively the medical documents of 24 WD patients examined in 2nd Pediatric Clinic and 5th Medical Clinic of Cluj-Napoca, and we collected data concerning the diagnosis. The patients were classified phenotypically (Leipzig classification) and we calculated the Leipzig score. We studied the relation between diagnostic score, clinical phenotype, age at diagnosis and sex. Results: Our group consisted of 7 adults and 17 pediatric patients, F/M = 1/1.4. They were distributed, according to the phenotype, as follows: acute hepatic (H1) – 3 (pediatric, all deceased); chronic hepatic (H2) – 12 (2 adults, 10 pediatric); neurological and hepatic (N1) – 6 (3 adults, 3 pediatric), neurological (N2) – 3 (2 adults, 1 pediatric). The hepatic involvement was inversely correlated with age (p=0.02), which in turn was directly correlated with neurological manifestations (p=0.05). There were no significant differences concerning either distribution on phenotypes in relation with sex and age or between Leipzig score and age, sex, onset modality, presence and severity of hepatic involvement. Conclusion: The presence of hepatic manifestations at the moment of diagnosis of WD decreases with age, while neurological one increases. The distribution on phenotypes was not influenced by age or sex. There is no relation between diagnostic score and studied demographical and clinical factors.