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 provide genetic consulting and prenatal diagnosis for two families with congenital factor V deficiency based on the known mutations of factor V gene (G16088C and G69969T).

METHODSChorionic DNA was obtained at 12 weeks of gestation and analyzed to exclude maternal cell contamination through microsatellite DNA analysis. It was then amplified with PCR and sequenced to determine the presence of mutations in exons 3 and 23. Factor V activity of the blood was assayed at 22 weeks of gestation and 6 months after birth.

RESULTSThe fetus in case 1 was found to be a heterozygous carrier of the G16088C mutation, for whom factor V activity of the cord blood and peripheral blood were 15% and 53%, respectively. Fetus 2 did not carry the familiar G69969T mutation, for whom the factor V activity of cord blood and peripheral blood has measured 32% and 93%, respectively. Follow-up studies demonstrated that the two infants were both in good health without a tendency for bleeding.

CONCLUSIONIn both cases, the genotypes were consistent with the phenotypes. This is the first report of prenatal diagnosis of congenital factor V deficiency.

Adult ; Base Sequence ; Child ; Factor V ; genetics ; metabolism ; Factor V Deficiency ; diagnosis ; genetics ; Female ; Humans ; Male ; Microsatellite Repeats ; Mutation ; Pregnancy ; Prenatal Diagnosis

Congenital factor V deficiency is a rare coagulation disorder, which is genetically autosomal recessive. In 1947, Owren first described a case of parahemophilia. During childhood, ecchymosis (bruising), epistaxis, oral hemorrhage, soft-tissue hemorrhage, and postpartum hemorrhage are noted in half of the patients. Because factor V is involved in common pathway in the coagulation scheme, prothrombin time (PT) and partial thromboplastin time (PTT) are prolonged. Definite diagnosis can be made with a specific factor V assay. Fresh frozen plasma would appear to be the treatment of choice. For the first time in Korea, we experienced a case of vaginal delivery in a patient with factor V deficiency. She delivered a male baby weighing 3120gm with median episiotomy. Six units of fresh frozen plasma were transfused during delivery. After additional transfusions of fresh frozen plasma, she was discharged on fourth postpartum day without hemorrhage or hematoma.
Diagnosis ; Ecchymosis ; Episiotomy ; Epistaxis ; Factor V Deficiency* ; Factor V* ; Female ; Hematoma ; Hemorrhage ; Humans ; Korea ; Male ; Oral Hemorrhage ; Partial Thromboplastin Time ; Plasma ; Postpartum Hemorrhage ; Postpartum Period ; Prothrombin Time

No abstract available.
Adolescent ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; DNA Mutational Analysis ; Factor V/genetics ; Factor V Deficiency/congenital/*diagnosis ; Female ; Heterozygote ; Humans ; Middle Aged ; Mutation, Missense ; Partial Thromboplastin Time ; Republic of Korea