Wilson's disease revisited in the tropics.
The clinical features and investigations of 17 patients were analysed. Thirteen of them were Chinese and the rest Indians. Their ages at presentation ranged from 8 to 63 years (mean 18.35 years). Thirteen patients (76%) were symptomatic; 8 with predominantly hepatic manifestations and 5 with neurological features. Four were asymptomatic siblings. At diagnosis, however, 10(59%) had features of liver involvement singly, 3 (18%) had neurological involvement alone and 4 (27%) had mixed presentations. Family histories were available in 15 patients; 26.9% of siblings had Wilson's Disease. Serum ceruloplasmin was low in 82% of the patients. 24-hour urinary copper was measured in 16 patients and was raised in all of them. About half the patients (41%) had evidence of concomittant renal tubular dysfunction with hypouricaemia and aminoaciduria. Three patients (18%) had joint involvement at presentation. All 17 patients were treated with Penicillamine. Complications due to therapy included pemphigus in one and toxic epidermal necrolysis and later a lupus like syndrome in another. The features of clinical improvement included fading of K-F rings, improvement of neurological signs and the normalisation of serum transaminases. One patient developed primary hepatocellular carcinoma 5 years after presentation. Delay in diagnosis was encountered in half of the patients reviewed. Being a treatable condition, Wilson's Disease, although rare, should always be thought of in patients with haemolysis, liver diseases or extrapyramidal disorders.
D000293:Adolescent; D000328:Adult; D002493:Central Nervous System Diseases / Q000150:complications; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D003300:Copper / Q000378:metabolism; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006801:Humans; D008107:Liver Diseases / Q000150:complications / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010396:Penicillamine / Q000627:therapeutic use
D003300:Copper; D002570:Ceruloplasmin; D010396:Penicillamine