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Association of congenital afibrinogenemia and K-dependent protein C deficiency--a case report
D De Mattia1, G Regina, P Giordano
1Dipartimento di Biomedicina dell'Età Evolutiva-I Clinica Pediatrica, Università di Bari, Italy.
Insights
This study reports a rare case of congenital afibrinogenemia and protein C deficit, leading to ischemic foot lesions after fibrinogen concentrate infusions. The combination of factors, including protein C deficit, contributed to these rare thromboembolic complications.
Area of Science:
- Hematology
- Genetics
- Vascular Medicine
Background:
- Congenital afibrinogenemia is a rare bleeding disorder.
- K-dependent protein C deficit is a prothrombotic condition.
- Thromboembolic events are uncommon in afibrinogenemia but can occur with treatment.
Observation:
- A patient with congenital afibrinogenemia and protein C deficit presented with ischemic foot lesions.
- Lesions developed following fibrinogen concentrate infusions without heparin.
- This presentation suggests a complex interplay of factors.
Findings:
- The ischemic lesions were attributed to fibrinogen infusion, microtrauma, and protein C deficit.
- This is the first reported case of combined congenital afibrinogenemia and protein C deficit.
- The genetic basis for these conditions is distinct, ruling out a common genetic cause.
Implications:
- Highlights the thrombotic risk associated with protein C deficit, even in bleeding disorders.
- Suggests careful monitoring and anticoagulation strategies during fibrinogen replacement therapy in patients with combined deficiencies.
- Underscores the importance of considering multiple hemostatic factors in managing rare coagulation disorders.
Abstract:
The authors describe a rare case of congenital afibrinogenemia with concomitant K-dependent protein C deficit that was brought to our observation for ischemic lesions of the foot in association with fibrinogen concentrate infusions. These lesions can be attributed to the association of various factors: fibrinogen infusion without heparin coverage, microtrauma, and protein C (PC) deficit. In fact, thromboembolic complications during afibrinogenemia were previously reported usually in association with substitutive therapy, and it is also known that PC deficit predisposes to thrombotic complications. The the authors' knowledge, the case described by them is the first in which PC deficit is associated with afibrinogenemia. This association cannot be explained by a common genetic mechanism because the genes for fibrinogen and for protein C are located on different chromosomes (chromosomes 4 and 2 respectively).