Sepsis and multiple organ dysfunction syndrome as the first clinical presentation of Wilson's disease: case report

Abstract

Wilson’s disease (WD) is a rare autosomal recessive disorder caused by a mutation in the ATP7B gene. The evolution of Wilson’s disease is the result of the accumulation of copper in affected tissues. In this study, we report on a 30-year-old patient with multiple organ dysfunction syndrome and sepsis. After the necessary investigations and genetic tests, the patient was diagnosed with WD. Unfortunately, the first symptoms appeared at least ten years ago with elevated liver transaminases and amenorrhea. It is possible that if any of the previous physicians had provided a detailed examination, the patient would have reached a diagnosis sooner. The patient received adequate penicillamine treatment and her condition improved. The patient manages to have a healthy child by slightly changing the treatment of Wilson's disease. This case demonstrates that proper examination and collection of anamnesis information can lead to a diagnosis of WD. In addition, we emphasise the importance of targeted testing for elevated transaminases, especially if the patient has amenorrhea at reproductive age. Wilson's disease is not a barrier to carrying a healthy child. Of course, more research is needed to develop the best treatment and disease management plans.