Wilson disease in southern Iran

Wilson disease is an autosomal recessive disorder of the brain, liver and cornea. It is fatal if left untreated. This descriptive study attempted to identify the demographic, clinical, and biochemical features of Wilson disease in Fars Province, Southern Iran.

All the patients with Wilson disease who were admitted to Nemazee Hospital, Shiraz, Iran, from 1990 till 2004 were included in this cross-sectional descriptive study. This is the only hospital in Southern Iran which has pediatric and adult Gastroenterology Wards. Statistical analyses were done by t-test.

In total, 111 patients were studied (65 males, 46 females). The mean age was 11+/-7 years; the youngest was three years old. The most common manifestations were hepatic (83.8%), neurological (24.3%) and psychological (23.4%) signs and symptoms. The most common biochemical abnormalities were increased urinary copper (91.4%), increased prothrombin time (84.5%), increased liver enzymes (77-89%), decreased serum ceruloplasmin (75.5%), hyperbilirubinemia (67%) and anemia (62.4%). Family history was positive in 36% of the patients.

In this study, sex ratio (M/F) was greater than one, similar to other studies. Age range was similar to other Asian studies, but less than observed in European and American studies. Clinical manifestations of Wilson disease in our patients were similar to the studies with similar age ranges. Biochemical abnormalities were sometimes different in our patients in comparison to previous studies, possibly due to the delay in the diagnosis in our patients.