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Published on: September 9, 2012
Purpura fulminans in a child with combined heterozygous prothrombin G20210A and factor V Leiden mutations
1Department of Pediatrics, Başkent University Faculty of Medicine, 6.Cadde No:72/3, 06490, Bahçelievler, Ankara, Turkey. nozbek@tr.net.
Insights
Pediatric thrombosis, though rare, is increasing. This case shows a child with severe arterial thrombosis due to combined factor V Leiden and prothrombin G20210A mutations.
Area of Science:
- Pediatric Hematology
- Thrombophilia Genetics
- Vascular Medicine
Background:
- Thrombosis in children is uncommon but increasingly reported.
- Genetic mutations like Factor V Leiden (FVL) and Prothrombin G20210A are known risk factors for thrombosis.
Observation:
- An 8-year-old boy presented with purpura fulminans, characterized by purpuric lesions and penile necrosis.
- The patient was found to be heterozygous for both the Factor V Leiden (FVL) and Prothrombin G20210A mutations.
Findings:
- The coexistence of multiple thrombophilic mutations (FVL and Prothrombin G20210A) was identified in a pediatric patient with severe arterial thrombosis.
- This combination likely contributed to the severe thrombotic event at a young age.
Implications:
- Highlights the importance of genetic screening for thrombophilia in children with severe thrombosis.
- Suggests that combined genetic mutations can lead to severe thrombotic manifestations in pediatric patients.
- Informs clinical management and genetic counseling for pediatric thrombosis cases.
Abstract:
Although thrombosis is relatively rare in children, reports of young patients with thrombosis are becoming more frequent with time. Activated protein C resistance and prothrombin 20210 A mutation are results of point mutations described in the last decade. This article highlights a case of a child with severe arterial thrombosis who was heterozygous for the factor V Leiden (FVL) and prothrombin G20210A mutations. The patient diagnosed with purpura fulminans was an 8-year-old boy who was referred to our hospital with purpuric lesions on the extremities and necrosis of the penis. We believe that the coexistence of more than one thrombophilic mutation contributed to the occurrence of severe thrombosis at a young age in this patient.
