Recurrent superficial venous thrombophlebitis because of mutations in the protein C and fibrinogen genes in a young Argentinian female

Hypodysfibrinogenemia and protein C deficiency are coagulopathies and in this report, we describe a young patient with both defects confirmed by molecular genetic tests. The patient was a 24-year-old woman referred for recurrent thrombophlebitis and finally deep venous thrombosis. Routine coagulation studies revealed mild decrease of protein C (0.49 IU, reference values 0.7–1.40 IU) and hypodysfibrinogenemia (0.88 g/l and 1.83 g/l for activity and antigen, respectively, reference values 2.0–4.0 g/l). Direct sequencing analyses were performed on FGA, FGB, and FGG genes to confirm hypodysfibrinogenemia and on the protein C gene to confirm protein C deficiency. As a result, the patient was shown to be heterozygous p.Ala82Gly in the FGG gene (Fibrinogen Dunedin) and for compound heterozygous missense mutation in protein C gene. To our knowledge, this is the first report on a case of combined dysfibrinogenemia and protein C deficiency confirmed by molecular genetic tests.

Source: Blood Coagulation and Fibrinolysis - February 8, 2019 Category: Hematology Tags: MUTATION REPORTS Source Type: research