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Updated: May 12, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
[Purpura fulminans, venous thrombosis and constitutional thrombophilia in an infant]
F Fadil1, F Elfatoiki, K Mortaji
1Service de pédiatrie 3, hôpital d'enfant, CHU Ibn Rochd, Casablanca, Maroc. fz.fadi@gmail.com
Insights
Idiopathic purpura fulminans (PF) and venous thrombosis (VT) in infants are rarely linked to inherited clotting disorders. A case highlights a Factor II mutation as a cause, emphasizing early diagnosis and multidisciplinary care.
Area of Science:
- Pediatrics
- Hematology
- Genetics
Background:
- Idiopathic purpura fulminans (PF) and venous thrombosis (VT) are rare conditions in infants.
- Constitutional thrombophilia is seldom identified as a cause in this age group.
Observation:
- An 18-month-old infant presented with PF and lower limb VT.
- Laboratory tests revealed disseminated intravascular coagulation (DIVC) with normal protein C, protein S, and antithrombin levels.
- Genetic testing identified a heterozygous Factor II (G 20210A) mutation.
Findings:
- The infant's condition was attributed to a heterozygous Factor II (G 20210A) mutation.
- This genetic finding provides a potential explanation for the co-occurrence of PF and VT in the infant.
Implications:
- Highlights the importance of genetic testing for thrombophilia in infants with unexplained PF and VT.
- Underscores the need for a multidisciplinary approach in managing these complex cases.
- Suggests Factor II mutation as a potential, though rare, underlying cause in pediatric thrombosis and purpura fulminans.
Abstract:
The association of idiopathic purpura fulminans (PF) and venous thrombosis (VT) seldom reveals constitutional thrombophilia in an infant. We report a case of PF in an 18-month-old infant. Laboratory tests showed disseminated intravascular coagulation (DIVC) with normal rates of C and S proteins and antithrombin. The echo-Doppler examination conveyed venous thrombosis of the lower limbs, while the genetic study showed heterozygous mutation of Factor II (G 20210A). Precocious and multidisciplinary management included frozen fresh plasma supplementation and necrosectomy with skin grafts. The diagnosis and therapeutic problems posed by PF combined with deep venous thrombosis are discussed.
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