title: Diagnosis and treatment of homozygous protein C deficiency. Report of the Working Party on Homozygous Protein C Deficiency of the Subcommittee on Protein C and Protein S, International Committee on Thrombosis and Haemostasis.
abstract: This report summarizes the documented cases of homozygous protein C deficiency in the United States and Europe. Procedures for diagnosing and treating this disorder (both initially and over the long term) have been compiled by a working party on homozygous protein C deficiency of the Subcommittee on Protein C of the International Committee on Thrombosis and Haemostasis. Homozygous protein C deficiency is an autosomal recessive disorder that usually manifests itself by purpura fulminans and, less commonly, by massive large vein thrombosis; severe diffuse intravascular coagulation also develops in these infants, and there is evidence of intrauterine thrombosis. For confirmation of homozygous protein C deficiency in a neonate with purpura fulminans or massive venous thrombosis, the infant should have undetectable protein C activity and both parents should be heterozygous for protein C deficiency. At the onset of symptoms, the initial treatment should be plasma (8 to 12 ml/kg every 12 hours) until all lesions have healed. Two modalities for long-term treatment are accepted as useful in these children: oral anticoagulant therapy or protein C replacement (fresh frozen plasma or prothrombin complex concentrate). Liver transplantation has been performed in only one child, with success. Oral anticoagulation (vitamin K antagonists, maintaining the prothrombin time from one and one-half to two times control values or at the International Normalized Ratio of 2.5 to 4.4) is our recommendation of choice for long-term treatment. With appropriate care, these children are able to be free of coagulopathy and live relatively normal lives.
authors.affiliation: Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80262.
authors.forename: R A
authors.initials: RA
authors.lastname: Marlar
authors.forename: R R
authors.initials: RR
authors.lastname: Montgomery
authors.forename: A W
authors.initials: AW
authors.lastname: Broekmans
mesh_terms: D000925:Anticoagulants / Q000627:therapeutic use; D001779:Blood Coagulation Factors / Q000627:therapeutic use; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010949:Plasma; D020151:Protein C Deficiency; D011693:Purpura / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*
chemical_list: D000925:Anticoagulants; D001779:Blood Coagulation Factors; C025667:prothrombin complex concentrates