Abstract

Recurrent miscarriage is a less recognised feature of Wilson Disease (WD) and adequate treatment can alter the outcome of pregnancies favourably. WD is a recessively inherited disorder of copper metabolism due to mutations in the ATP7B gene, which encodes for a copper-transporting P-type ATPase. Recurrent miscarriage is a complication of untreated WD. It has been reported that miscarriages can predate neurological symptoms, and treatment with copper chelation improves the rate of successful pregnancies. We describe a patient with a background of unexplained recurrent miscarriages who was diagnosed with WD and subsequently gave birth to two children after treatment was commenced.