Long‐term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation

• Published in: Pediatric transplantation Vol. 13; no. 2; pp. 251 - 254
• Main Authors: Lee, Mee Jeong, Kim, Kyung Mo, Kim, Joon Sung, Kim, Yoon Jeong, Lee, Young Joo, Ghim, Thad T.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.03.2009; Blackwell
• Subjects: Administration, Oral; Anticoagulants - administration & dosage; Biological and medical sciences; Female; General aspects; Genes, Recessive; Hematologic and hematopoietic diseases; Homozygote; Humans; Infant; Liver Transplantation - methods; Liver, biliary tract, pancreas, portal circulation, spleen; living donor liver transplantation; Medical sciences; neonatal purpura fulminans; Platelet diseases and coagulopathies; Protein C - therapeutic use; protein C deficiency; Protein C Deficiency - drug therapy; Protein C Deficiency - genetics; Purpura Fulminans - genetics; Recurrence; Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases; Surgery of the digestive system; Thrombosis - therapy; Treatment Outcome; Pediatrics; Skin disease; Neonatal; Prognosis; Liver; Purpura fulminans; Hemopathy; Homotransplantation; Homozygosity; Protein C deficiency; Surgery; Graft; Child; Human; Digestive system; Living donor; neonatal purpura fulminans; Protein C; Long term; Survival; Genetic disease; Newborn; Treatment; Coagulopathy; living donor liver transplantation; Liver transplantation
• ISSN: 1397-3142; 1399-3046
• DOI: 10.1111/j.1399-3046.2008.00972.x

:  Homozygous protein C deficiency is an autosomal recessive disorder often presenting with purpura fulminans. Fresh frozen plasma and oral anticoagulation have been used in the treatment of this disease. Lately, protein C concentrate has become the treatment of choice. However, protein C concentrate is not yet widely available in many countries. We report a six‐month‐old girl with homozygous protein C deficiency who had suffered from frequent thrombotic episodes. She was successfully treated with living donor liver transplantation. Eight years after the transplantation, she remains symptom free. As described here, the liver transplantation offers an alternative curative treatment for children with homozygous protein C deficiency.