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

GUGLIELMONE HUGO A

BLOOD COAGULATION & FIBRINOLYSIS : AN INTERNATIONAL JOURNAL IN HAEMOSTASIS AND THROMBOSIS.

LIPPINCOTT WILLIAMS & WILKINS

Lugar: Oxford; Año: 2019 vol. 30 p. 80 - 80

0957-5235

ypodysfibrinogenemia and protein C deficiency arecoagulopathies and in this report, we describe a youngpatient with both defects confirmed by molecular genetictests. The patient was a 24-year-old woman referred forrecurrent thrombophlebitis and finally deep venousthrombosis. Routine coagulation studies revealed milddecrease 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 activityand 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 onthe protein C gene to confirm protein C deficiency. As aresult, the patient was shown to be heterozygousp.Ala82Gly in the FGG gene (Fibrinogen Dunedin) and forcompound heterozygous missense mutation in protein Cgene. To our knowledge, this is the first report on a case ofcombined dysfibrinogenemia and protein C deficiencyconfirmed by molecular genetic tests.