We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Ramifications of Four Concurrent Thrombophilic Mutations and One Hypofibrinolytic Mutation.
- Authors
Glueck, Charles J.; Goldenberg, Naila; Ping Wang; Aregawi, Dawit
- Abstract
A kindred was examined in which the 48-year-old white female proband with three deep venous thrombosis-pulmonary emboli events had four thrombophilic and one hypofibrinolytic mutations, and in which her 14-year-old asymptomatic daughter had four thrombophilic mutations. The proband was heterozygous for the G1691A factor V Leiden. G20210A prothrombin, and platelet glycoprotein IIIa PL A1/A2 mutations, had high factor VIII (221%), and was homozygous for the 4G4G plasminogen activator inhibitor-1 gene mutation, with high plasminogen activator inhibitor activity (23.7 U/mL). Her 14-year-old daughter was homozygous for the G1691A factor V Leiden and platelet glycoprotein IIb-IIIa PL A2/A2 mutations, compound heterozygous for the G677T and A1298G methylenetetrahydrofolate reductase (MTHFR) mutations, and heterozygous for the G20210A prothrombin mutation, a combination with an estimated likelihood of 1.6 x 10-1. In 247 white healthy controls, there was no V Leiden homozygosity and no V Leiden-prothrombin gene compound heterozygosity. Heterozygosity for the V Leiden and prothrombin gene mutations was 3.2% and 4.1%, respectively. Homozygosity for the platelet glycoprotein IIb-IIIa PL A2A2, PAI-1 gene 4G4G, and G677T MTHFR mutations was 3.2%. 22.7%, and 12%, respectively. The proband will receive anticoagulation therapy for life. Beyond aspirin, avoidance of exogenous estrogens, and enoxaparin prophylaxis during pregnancy, it is not known whether the proband's daughter should have lifelong anticoagulation therapy, or only after her first thrombotic event.
- Subjects
VENOUS thrombosis; PULMONARY embolism; GLYCOPROTEINS; PROTHROMBIN; PLASMINOGEN activators; BLOOD coagulation factors; NONSTEROIDAL anti-inflammatory agents
- Publication
Clinical & Applied Thrombosis/Hemostasis, 2004, Vol 10, Issue 4, p365
- ISSN
1076-0296
- Publication type
Article
- DOI
10.1177/107602960401000409