title: Mild factor XIII deficiency and concurrent hypofibrinogenemia: effect of pregnancy.
abstract: Factor XIII (FXIII) deficiency is a rare bleeding disorder. Patients with mild congenital FXIII deficiency tend to be asymptomatic, but may demonstrate significant bleeding symptoms with surgery, trauma, and pregnancy. Postpartum hemorrhage has been described in mild FXIII deficiency. We present a case of mild FXIII deficiency and concurrent hypofibrinogenemia manifested by recurrent postpartum hemorrhage, menorrhagia, and miscarriage. Mutational analysis identified a previously unreported heterozygous mutation of the FXIIIA subunit (p.Trp315Arg). No mutation was noted in the fibrinogen gene. FXIII levels decreased approximately 50% from nonpregnant levels to their nadir during labor, whereas fibrinogen levels rose approximately 1.5-fold from decreased nonpregnant levels to their peak at the time of labor. This case illustrates the course of mild FXIII and fibrinogen deficiencies during pregnancy, labor, and postpartum, and raises possible management options for prevention of antepartum and postpartum hemorrhage in women with these deficiencies.
authors.affiliation: Division of Hematology, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
authors.forename: Amanda D
authors.initials: AD
authors.lastname: Kaveney
authors.forename: Claire S
authors.initials: CS
authors.lastname: Philipp
mesh_terms: D000022:Abortion, Spontaneous / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D000347:Afibrinogenemia / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005176:Factor XIII / Q000235:genetics* / Q000378:metabolism; D005177:Factor XIII Deficiency / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005340:Fibrinogen / Q000235:genetics / Q000378:metabolism; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D008595:Menorrhagia / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D006473:Postpartum Hemorrhage / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D011247:Pregnancy
chemical_list: D005340:Fibrinogen; D005176:Factor XIII