PT  - JOURNAL ARTICLE
AU  - Andrew D Shubin
AU  - Lucia De Gregorio
AU  - Christine Hwang
AU  - Malcolm MacConmara
TI  - Combined heart–liver transplantation in a case of haemochromatosis
AID  - 10.1136/bcr-2020-241508
DP  - 2021 May 01
TA  - BMJ Case Reports
PG  - e241508
VI  - 14
IP  - 5
4099  - http://casereports.bmj.com/content/14/5/e241508.short
4100  - http://casereports.bmj.com/content/14/5/e241508.full
SO  - BMJ Case Reports2021 May 01; 14
AB  - Hereditary haemochromatosis results in multiorgan dysfunction secondary to iron overload. Haemojuvelin (HJV)-associated haemochromatosis, is a rapidly progressing form of haemochromatosis caused by mutation in the HJV that frequently results in heart and liver failure. Herein, we describe the successful treatment of a 39-year-old woman with decompensated heart failure and liver cirrhosis requiring extracorporeal membrane oxygenation who was successfully treated with combined heart–liver transplantation. Following her life-saving multiorgan transplantation, she was also noted to have rapid correction of her serum ferritin to normal levels. She remains healthy with excellent allograft function and normal iron and ferratin levels 4 years after the procedure. To our knowledge, this case is the first demonstration that combined heart–liver transplantation is a feasible option for patients with heart and liver failure secondary to HJV-associated haemochromatosis and indeed offers a long-standing corrective solution to treat this condition and restore physiologically normal iron metabolism.