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Pregled bibliografske jedinice broj: 479659

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


Leniček Krleza, Jasna; Jakovljević, Gordana; Bronić, Ana; Coen Herak, Desiree; Bonevski, Aleksandra; Stepan-Giljević, Jasminka; Roić, Goran
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 // Pathophysiology of haemostasis and thrombosis, 37 (2010), 1; 24-29 doi:10.1159/000319051 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 479659 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
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

Autori
Leniček Krleza, Jasna ; Jakovljević, Gordana ; Bronić, Ana ; Coen Herak, Desiree ; Bonevski, Aleksandra ; Stepan-Giljević, Jasminka ; Roić, Goran

Izvornik
Pathophysiology of haemostasis and thrombosis (1424-8832) 37 (2010), 1; 24-29

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Deep venous thrombosis; Pulmonary embolism; Oral contraceptives; Teenagers; Prothrombotic risk factors

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekti:
098-0982464-3120 - Farmakogenetika u dječjoj onkologiji (Stepan Giljević, Jasminka, MZOS ) ( POIROT)

Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta,
Institut "Ruđer Bošković", Zagreb,
Klinički bolnički centar Zagreb

Citiraj ovu publikaciju

Leniček Krleza, Jasna; Jakovljević, Gordana; Bronić, Ana; Coen Herak, Desiree; Bonevski, Aleksandra; Stepan-Giljević, Jasminka; Roić, Goran
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 // Pathophysiology of haemostasis and thrombosis, 37 (2010), 1; 24-29 doi:10.1159/000319051 (međunarodna recenzija, članak, znanstveni)
Leniček Krleza, J., Jakovljević, G., Bronić, A., Coen Herak, D., Bonevski, A., Stepan-Giljević, J. & Roić, G. (2010) 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. Pathophysiology of haemostasis and thrombosis, 37 (1), 24-29 doi:10.1159/000319051.
@article{article, year = {2010}, pages = {24-29}, DOI = {10.1159/000319051}, keywords = {Deep venous thrombosis, Pulmonary embolism, Oral contraceptives, Teenagers, Prothrombotic risk factors}, journal = {Pathophysiology of haemostasis and thrombosis}, doi = {10.1159/000319051}, volume = {37}, number = {1}, issn = {1424-8832}, title = {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}, keyword = {Deep venous thrombosis, Pulmonary embolism, Oral contraceptives, Teenagers, Prothrombotic risk factors} }
@article{article, year = {2010}, pages = {24-29}, DOI = {10.1159/000319051}, keywords = {Deep venous thrombosis, Pulmonary embolism, Oral contraceptives, Teenagers, Prothrombotic risk factors}, journal = {Pathophysiology of haemostasis and thrombosis}, doi = {10.1159/000319051}, volume = {37}, number = {1}, issn = {1424-8832}, title = {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}, keyword = {Deep venous thrombosis, Pulmonary embolism, Oral contraceptives, Teenagers, Prothrombotic risk factors} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


Uključenost u ostale bibliografske baze podataka:


  • EMBASE (Excerpta Medica)
  • MEDLINE


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