Successful Treatment of Homozygous Protein C Deficiency by Hepatic Transplantation

Abstract

A child with homozygous protein C deficiency was treated at age 20 months by orthotopic hepatic transplantation. Postoperatively there was complete reconstitution of protein C activity and resolution of the thrombotic condition.

Long-term Follow-up of Homozygote Protein C Deficiency After Multimodal Therapy

“…In each of these other instances, liver transplantation was used as a semiurgent therapy, as in 2 cases symptoms of protein C deficiency were not controlled before the transplantation. 7,19,20 In comparison, our patient was stable and doing very well on multimodel therapy, and was electively transplanted.…”

“…There are 3 previously reported cases of liver transplantation for homozygous protein C deficiency with 2 survivors. 7,19,20 However, our study is the only one to report a 10-year follow-up after successful liver transplantation and multimodal therapy guided by the use of specific laboratory parameters. In each of these other instances, liver transplantation was used as a semiurgent therapy, as in 2 cases symptoms of protein C deficiency were not controlled before the transplantation.…”

Neonatale Purpura fulminans

“…Als Ultima ratio und einzige kurative Therapie existiert die Möglichkeit einer Lebertransplantation, die bereits in einzelnen Fällen beschrieben wurde [2,5]. Hierbei müssen jedoch unbedingt Risiken, wie das der Operation, sowie die lebenslang notwendige immunsuppressive Therapie bedacht werden.…”

“…Der betreuende Kinderarzt und die Eltern wurden darüber informiert, bei Auftreten von unerwarteten Problemen bei der subkutanen Protein-C-Gabe oder Neuauftreten von Hauteffloreszenzen eine sofortige antikoagulatorische Überbrückungs-therapie mit niedermolekularem HepaAbb. 2 …”

The Present State of Liver Transplantation and the Future Prospects for Intestinal Transplantation

“…Nearly a dozen inborn errors of metabolism have been somatically corrected with a new liver, including the clotting disorders of hemophilia (1) and protein C deficiency (2). The history of the inborn errors of metabolism is itself a fascinating one.…”