Factor V deficiency is a rare hereditary disorder. We report a patient with factor V deficiency who presented with menorrhagia and pelvic haematoma. The Haematology Department at the Royal Brisbane Hospital performed the definitive factor assays leading to the diagnosis. The challenges of her management were obtaining adequate supplies of factor V and her socioeconomic circumstances. The main future challenge will be the supervision of her pregnancies.
Blood Coagulation Factors - analysis ; Factor V Deficiency - complications ; Factor V Deficiency - diagnosis ; Female ; Genital Diseases, Female - etiology ; Hematoma - etiology ; Humans ; Menorrhagia - etiology

OBJECTIVETo investigate the mechanism of anticoagulation protein defect in the pathogenesis of unexplained recurrent miscarriage.

METHODSFifty-seven patients with a history of unexplained abortion were enrolled as the investigation group for tests of protein C, protein S, antithrombin III (AT-III), as well as activated protein C resistance (APC-R). The control group consisted of fifty healthy women with a history of normal pregnancy and delivery. Blood samples were obtained for, measuring serum activity of protein C, protein S, AT-III, and APC-R. Patients with positive APC-R were tested for factor V (FV) Leiden gene mutation by PCR-RFLP method.

RESULTSOf the 57 patients, 12 (21.1%), 1 (1.8%), and 5 (8.8%) cases were found with protein S, protein C, and AT-III deficiency respectively, and 13 (22.8%) cases with positive results of APC-R. Of the control group, no protein C or AT-III deficiency was ever found, whereas 2 (4.0%) volunteers were presented with protein S deficiency and 3 (6.0%) with positive results of APC-R. No FV Leiden gene mutation was identified in all the patients with positive APC-R results. Late spontaneous abortion cases had higher incidence of anticoagulation protein defect than the early cases.

CONCLUSIONAnticoagulation protein defect may play a role in the pathogenesis of fetal loss, especially for those occurring in late stage of pregnancy.

Abortion, Habitual ; blood ; etiology ; Activated Protein C Resistance ; blood ; complications ; genetics ; Adult ; Antithrombin III ; metabolism ; Antithrombin III Deficiency ; blood ; complications ; Factor V ; genetics ; Female ; Humans ; Point Mutation ; Protein C ; metabolism ; Protein C Deficiency ; blood ; complications ; Protein S ; metabolism ; Protein S Deficiency ; blood ; complications