Common symptoms of SCPCD
Clinical signs and symptoms of Severe Congenital Protein C
The symptoms of Protein C (PC) deficiency are driven by a shift in the balance between pro- and anticoagulation factors that results in excess coagulation. This excess coagulation can cause thrombosis and subsequent presentation of symptoms.1*
Purpura fulminans is a rapidly-progressing thrombotic disorder involving haemorrhagic infarction of the skin and disseminated intravascular coagulation.2 At first, skin lessions 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 on the left shows a PF lesion on the left hip of a male newborn.
Disseminated intravascular coagulation
Disseminated Intravascular Coagulation (DIC) is an acquired syndrome characterised by the intravascular activation of coagulation with a loss of localisation 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 on the left shows the typical clinical features of DIC.5
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 ischaemic optic atrophy.2 Ophthalmic lesions may occurs before or after birth.6
Large vessel venous thrombosis may also occur, e.g. , renal vein thrombosis.3
Cerebral venous thrombosis
Affected neonates also commonly show significant neurological injuries resulting from antenatal or early postnatal cerebral venous thrombosis with secondary peri-ventricular haemorrhagic infarction and hydrocephalus.2
*The symptoms presented here are not an exhaustive list. Other symptoms may be present in the event of SCPCD.1,2
Goldenberg N, Manco-Johnson M. Protein C deficiency. Haemophilia. 2008;14(6):1214–1221.
Chalmers E, et al. Purpura fulminans: recognition, diagnosis and management. Archives of Disease in Childhood. 2011;96(11):1066-1071.
Price VE, et al. Diagnosis and management of neonatal purpura fulminans. Semin Fetal Neonatal Med. 2011;16(6):318-22.
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.
Rajagopal R, et al. Disseminated intravascular coagulation in paediatrics. Arch Dis Child. 2017;102(2):187-193.
Ergenekon E, et al. Can leukocoria be the first manifestation of protein C deficiency? Br J Ophthalmol. 2000;84:117 -121