Severe Congenital Protein C Deficiency: Practical Aspects of Management

Abstract

Subcutaneous (SC) protein C (PC) was used in a child with purpura fulminans secondary to severe congenital PC deficiency. For maintenance, PC 80-120 IU/kg, given over 60-90 min SC Q48hr, has been successful as a home therapy for more than 3 years. The treatment was monitored by measuring trough PC chromogenic activity (target ≥15%) and D-dimer levels. No change in clinical course was appreciated after discontinuing enoxaparin (and leaving the patient on prophylactic PC replacement alone). A significant discrepancy between clotting-based and chromogenic-based PC activity is shown.

Management of severe congenital protein C deficiency with a direct oral anticoagulant, edoxaban: A case report

“…The optimal approach for the management for severe PC deficiency remains unclear. Although PC replacement and LMWH are options in Western countries, both require frequent injections, which is a burden for pediatric patients and their families. In Japan, only APC is available, and it cannot be used for chronic management.…”

Rasch progressive livid‐schwarze Hautläsionen bei einem zwei Tage alten Neugeborenen

“…Wir begannen mit der sofortigen Substitutionstherapie mit gefrorenem Frischplasma (FFP) dosiert nach Körpergewicht (15 ml/kg alle 12 Stunden), da kein Protein-C-Konzentrat verfügbar war [6]. Im Idealfall ist ein Protein-C-Konzentrat die empfohlene Substitutionstherapie (zunächst 100 U/kg Körpergewicht [KG], gefolgt von 50 U/kg KG alle 6 Stunden) [7]. Die häufigste Nebenwirkung der Substitutionstherapie ist eine Flüssigkeitsüberlastung.…”

Successful liver transplantation for homozygous protein C deficiency with a type II mutation using a heterozygous living related donor

“…Severe PC deficiency most often presents as PF with widespread macrovascular or microvascular thromboses within the first hours to days of life. This morbidity may involve vasculature in the skin along with retinal, renal, and cerebral circulations, potentially culminating in disseminated intravascular coagulation or death . Aggressive empiric factor replacement therapy along with anticoagulation can be life‐saving, particularly if started after the initial clinical suspicion, as definitive testing can take days to weeks to result.…”