Abstract
Acute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20-year history of severe chronic manifestations of acute intermittent porphyria that led to end-stage renal disease and liver function impairment. Since only transplants can cure both disease manifestations, a combined liver and renal transplantation was performed. The patient recovered so well that she delivered a very low birth extreme premature baby 16 months later which developed normally over the next 5 years. Our case represents the third case in the literature with a successful combined liver/renal transplantation of a patient with acute porphyria. Thus, transplantation seems to be a viable backup option, should novel therapies such as siRNA treatment with givosiran fail.