What is Severe Congenital Protein C Deficiency

WHAT IS PROTEIN C DEFICIENCY?

Protein C deficiency can be caused by mutation of the protein C gene (congenital protein C deficiency) or as a result of other conditions (acquired protein C deficiency).^1,2 The severity of the deficiency is determined by the remaining plasma activity of protein C.¹

Severe Congenital Protein C Deficiency (SCPCD) is an autosomal recessive, rare disorder that leads to high initial mortality and long-term morbidity in survivors.¹ In neonates, SCPCD can manifest, within hours after birth, as purpura fulminans with necrosis of the skin and venous thrombosis.^1-3

Testing for SCPCD

Several laboratory tests can be conducted upon signs of purpura fulminans to confirm protein C deficiency:

Given possible confounding factors, severe congenital protein C deficiency is confirmed using multiple methods ³

PROTEIN C (PC) ACTIVITY ASSAY^2,1
Protein S assay ¹ (low PC levels but normal Protein S levels are suggestive of SCPCD)
Protein C antigen⁵
Platelets ^5,6
Fibrinogen ^3,5
D-dimer⁵
Prothrombin time (PT) ^3,5
Activated partial prothrombin time ³
Genetic analysis ³
Protein C level testing in parents ² (Protein C activity assay and Protein C antigen)
PC testing in family members is recommended to determine if the deficiency is genetic and whether it is a homozygous or heterozygous mutation ³

The severity of protein C deficiency is based on protein C activity¹

The mean plasma concentration of protein C in a healthy term infant is 40/IU dL, with a lower limit of normal of 25 IU/dL.¹

Protein C concentration increases from birth until 6 months of age. Protein C concentration remains slightly low through childhood and achieves the adult range after puberty.¹

EARLY DIAGNOSIS OF SEVERE CONGENITAL PROTEIN C DEFICIENCY (SCPCD)

Identification

Clinical diagnosis of purpura fulminans skin lesions is critical³

Visually identifying skin lesions:
- Infants with SCPCD usually present within hours after birth with rapidly progressive purpura fulminans ^3,1
Because purpura fulminans is a haematological emergency due to the rapidly progressive nature of the multi-organ thrombotic injury, consultation with a haematologist is recommended ²

SCPCD and its potential complications²

Purpura fulminans can lead to life-threatening complications:

Purpura fulminans can rapidly progress to organ failure as a result of necrosis and disseminated intravascular coagulation²
Rates of amputation in infants and children with purpura fulminans may be as high as 62%⁷

Download Our signs and Symptoms poster here to print off and display in your trust.

Learn more about CEPROTIN (human protein c)-Clinical Data & Safety information.

CEPROTIN^® is indicated for prophylaxis and treatment of purpura fulminans coumarin-induced skin necrosis and venous thrombotic events in patients with severe congenital protein C deficiency.⁴

REFERENCES

Goldenberg N, Manco-Johnson M. Protein C deficiency. Haemophilia. 2008;14(6):1214–21.
Chalmers E, et al. Purpura fulminans: recognition, diagnosis and management. Archives of Disease in Childhood. 2011;96(11):1066–71.
Price VE, et al. Diagnosis and management of neonatal purpura fulminans. Semin Fetal Neonatal Med. 2011;16(6):318–22.
CEPROTIN^® 500 IU Summary of Product Characteristics.
Khor B, et al. Laboratory tests for protein C deficiency. Am J Hematol. 2010;85:440–2.
Tairaku S, et al. Prenatal genetic testing for familial severe congenital protein C deficiency. Hum Genome Var. 2015;2:15017
Gürgey A, et al. Outcome in Children With Purpura With Fulminans: Report on 16 Patients. Am J Hematol. 2005;80(1):20–5