Contraception-related deep venous thrombosis and pulmonary embolism in a 17-Year-old girl heterozygous for factor V leiden, prothrombin G20210A mutation, MTHFR C677T and homozygous for PAI-1 mutation: report of a family with multiple genetic risk factors and review of the literature.
We present the case of a 17-year-old girl who suddenly woke up with localized pain in the left groin and the inability to twist her leg. After comprehensive physician and laboratory examinations, deep venous thrombosis with consequent pulmonary embolism was ascertained. She had not experienced any recent trauma, but she had started to take oral contraceptives 6 months prior to the onset of the symptoms. Her parents and sisters had been asymptomatic throughout their lives, but the family history revealed a few thromboembolic accidents. Using DNA analysis, heterozygosity for factor V Leiden, prothrombin gene mutation G20210A and methylenetetrahydrofolate reductase C677T, as well as the homozygous 4G/4G genotype in the plasminogen activator inhibitor 1 were identified in our patient. Subsequently, DNA analysis was performed in all living family members, and multiple factors associated with thrombophilia were discovered. Our case confirms the multifactorial cause of thromboembolic events and emphasizes the importance of oral contraceptive use in the onset of venous thrombosis, especially in teenage females. In addition, this case indicates that teenage females with a family history of thrombosis who are making choices about contraception could most likely benefit from advanced thrombophilia testing.
Lenicek Krleza
Jasna
J
Departments of Laboratory Diagnostics, Children's Hospital Zagreb and University School of Medicine, Zagreb, Croatia. jasna.lenicek-krleza @ zg.htnet.hr
Jakovljevic
Gordana
G
Bronic
Ana
A
Coen Herak
Désirée
D
Bonevski
Aleksandra
A
Stepan-Giljevic
Jasminka
J
Roic
Goran
G
D000293:Adolescent; D003278:Contraceptives, Oral, Hormonal / Q000009:adverse effects; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics* / Q000378:metabolism; D011516:Prothrombin / Q000235:genetics* / Q000378:metabolism; D011655:Pulmonary Embolism / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D012307:Risk Factors; D020246:Venous Thrombosis / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D003278:Contraceptives, Oral, Hormonal; D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)