title: The obstetric, gynaecological and fertility implications of homozygous PAI-1 deficiency: single-centre experience.
abstract: Complete plasminogen activator inhibitor type 1 (PAI-1) deficiency is an exceedingly rare autosomal recessive bleeding disorder previously identified and reported in a large Old Order Amish (OOA) kindred in Indiana [Fay et al. Blood 1997; 90: 204]. Mouse models suggest that proteolysis via the plasminogen activator/plasmin system plays a crucial role in reproduction including degradation of the follicular wall during ovulation, fertilization, embryo implantation and embryogenesis [Leonardsson et al., Proc Natl Acad Sci USA 1995; 92: 12446]. We report the obstetric, gynaecological and fertility histories of OOA individuals with homozygous PAI-1 deficiency. In this family, there are 10 affected members identified to date ranging in age between 10 and 32 years, including seven female patients and three male patients. To date, two women have achieved pregnancies without difficulty; however, they experienced antenatal bleeding and preterm labour. The early initiation and continuation of antifibrinolytic agents, Epsilon-aminocaproic acid or tranexamic acid, during the pregnancy and in the postpartum period, was believed to be successful in preventing major bleeding complications in our patients with complete PAI-1 deficiency.
authors.affiliation: Indiana Hemophilia and Thrombosis Center, Indianapolis, IN, USA.
authors.forename: M
authors.initials: M
authors.lastname: Heiman
authors.forename: S
authors.initials: S
authors.lastname: Gupta
authors.forename: A D
authors.initials: AD
authors.lastname: Shapiro
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005298:Fertility; D006176:Gynecology; D006474:Hemorrhagic Disorders / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009774:Obstetrics; D017395:Plasminogen Activator Inhibitor 1 / Q000172:deficiency* / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics / Q000503:physiopathology; D011256:Pregnancy Outcome; D055815:Young Adult
chemical_list: D017395:Plasminogen Activator Inhibitor 1
keywords: PAI-1 deficiency; amish; fertility; gynaecology; obstetric; pregnancy