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Clinical signs and symptoms of Severe Congenital Protein C Deficiency (SCPCD)

Symptoms of SCPCD

Clinical signs and symptoms of Severe Congenital Protein C

Deficiency (SCPCD)

The symptoms of Protein C (PC) deficiency are driven by a shift in the balance between pro- and anti-coagulation factors that results in excess coagulation. This excess coagulation can cause thrombosis and subsequent presentation of symptoms.1,*

Severe Congenital Protein C Deficiency (SCPCD) symptom - purpura fulminans skin lesions

Purpura fulminans

Purpura Fulminans (PF) is a rapidly-progressing thrombotic disorder involving hemorrhagic infarction of the skin and disseminated intravascular coagulation.2
At first, skin lesions appear dark red and subsequently become purple-black and indurated.3 In SCPCD, these lesions can develop on the lower limbs, male genitalia as well as pressure points, such as the back of the head, buttocks, and heels.1,2
The image here shows a PF lesion on the left hip of a male newborn.

Severe Congenital Protein C Deficiency (SCPCD) symptom – Disseminated Intravascular Coagulation (DIC)

Disseminated intravascular coagulation

Disseminated Intravascular Coagulation (DIC) is an acquired syndrome characterized by the intravascular activation of coagulation with a loss of localization arising from different causes. It can both originate from and cause damage to the microvasculature, which, if sufficiently severe, can produce organ dysfunction.4
The image here shows the typical clinical features of DIC.5

Severe Congenital Protein C Deficiency (SCPCD) symptom – retinal vessel thrombosis

Retinal vessel thrombosis

Blindness is a common manifestation of severe PC deficiency and may arise from vitreal bleeding, retinal vein, artery or vitreal vein thrombosis with retinal detachment manifesting as leucocoria or ischemic optic atrophy.2 Ophthalmic lesions may occur before or after birth.6

Severe Congenital Protein C Deficiency (SCPCD) symptom – venous thrombosis

Venous thrombosis

Large vessel venous thrombosis may also occur, e.g., renal vein thrombosis.3

Severe Congenital Protein C Deficiency (SCPCD) symptom – cerebral venous thrombosis

Cerebral venous thrombosis

Affected neonates also typically show significant neurological injuries resulting from antenatal or early postnatal cerebral venous thrombosis with secondary peri-ventricular hemorrhagic infarction and hydrocephalus.3

*The symptoms presented here are not an exhaustive list. Other symptoms may be present in the event of SCPCD.1,2

References:

  1. Goldenberg N, Manco-Johnson M. Protein C deficiency. Haemophilia. 2008;14(6):1214–1221.

  2. Chalmers E, et al. Purpura fulminans: recognition, diagnosis and management. Archives of Disease in Childhood. 2011;96(11):1066-1071.

  3. Price VE, et al. Diagnosis and management of neonatal purpura fulminans. Semin Fetal Neonatal Med. 2011;16(6):318-22.

  4. Taylor FB Jr, et al. Towards definition, clinical and laboratory criteria, and a scoring system for disseminated intravascular coagulation. Thromb Haemost. 2001;86(5):1327-30.

  5. Rajagopal R, et al. Disseminated intravascular coagulation in paediatrics. Arch Dis Child. 2017;102(2):187-193.

  6. Ergenekon E, et al. Can leukocoria be the first manifestation of protein C deficiency? Br J Ophthalmol. 2000;84:117 -121

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