DefinitionThis section has been translated automatically.
Extensive skin ecchymosis with development of necrosis in addition to visceral thrombosis and embolism occurring in the first hours or days of life.
In heterozygous protein C deficiency, patients are often clinically asymptomatic, possibly recurrent thrombophlebitis, thrombosis, embolism or necrosis after coumarin treatment.
EtiopathogenesisThis section has been translated automatically.
Homozygous protein C deficiency, due to autosomal dominant mutations in the PROC gene located on chromosome 2q14.3.
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TherapyThis section has been translated automatically.
Treatment by the pediatrician. Fresh frozen plasma (FFP), vitamin K antagonists, protein C substitution.
Progression/forecastThis section has been translated automatically.
Untreated: 100% lethality. Long-term prognosis uncertain even with therapy.
LiteratureThis section has been translated automatically.
- Ding Q et al. (2015) Protein C Thr315Ala variant results in gain of function but manifests as type II deficiency in diagnostic assays. Blood 125:2428-2434
- Kovács KB et al (2015) Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. Thromb Res 135:718-726.
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PROC gene;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer