Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report
Physicians usually do not suspect pulmonary thromboembolism in younger patients except in those who have thrombophilia. In those latter patients some special conditions such as trauma or surgery may provoke the disease. In some adult persons, thrombophilia may still remain unrecognized, unt...
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doaj-29cc1747ed8a417fae7677b19c9c57af2020-11-24T22:51:53ZengSerbian Genetics SocietyGenetika0534-00121820-60692014-01-0146262162910.2298/GENSR1402621N0534-00121402621NPhenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case reportNagorni-Obradović Ljudmila0Maksimović Nela1Miljić Predrag2Cvetković Dragana3Stević Ruža4Pešut Dragica5Faculty of Medicine, Belgrade + Clinical Centre of Serbia, Clinic for Pulmology, BelgradeFaculty of Medicine, BelgradeFaculty of Medicine, BelgradeFaculty of Biology, BelgradeFaculty of Medicine, Belgrade + Clinical Centre of Serbia, Clinic for Radiology, BelgradeFaculty of Medicine, Belgrade + Clinical Centre of Serbia, Clinic for Pulmology, BelgradePhysicians usually do not suspect pulmonary thromboembolism in younger patients except in those who have thrombophilia. In those latter patients some special conditions such as trauma or surgery may provoke the disease. In some adult persons, thrombophilia may still remain unrecognized, until appearance of additional conditions influence development of thrombosis. A 55-year-old Caucasian female, non-smoker, experienced sudden chest pain and hemoptysis without chest trauma. History taking revealed type 2 diabetes mellitus and hypothyroidism. She was overweight with body mass index 29.0. The review of the family history revealed that her father and mother died of brain infarction, while her 22-year-old son and 24-year-old daughter were healthy. Due to suspicion for thrombosis, multi-slice computerized tomography thorax scan was done and pulmonary embolism was diagnosed. Although without clear risk factor for thrombosis in our patient, we performed laboratory investigation for congenital thrombophilia. Genetic analysis showed double heterozygous for factor V Leiden and prothrombin 20210 G>A mutations. Congenital thrombophilia was risk factor for thrombosis in our patient but haemostatic imbalance was not previously clinically recognized. She had two pregnancies without complications. Appearance of other associative factors such as endocrine disorders - hypothyroidism and metabolic syndrome with diabetes type 2, and overweigh were additional potential triggers for clinical manifestation of pulmonary thromboembolism in her adult age. Her children underwent genetic analysis, too. The son was also double heterozygous for factor V Leiden and prothrombin 20210 G>A mutations, while daughter was heterozygous for factor V Leiden, and none had clinical signs of thrombosis. [Projekat Ministarstva nauke Republike Srbije, br. ON175081 i br. ON 175091]http://www.doiserbia.nb.rs/img/doi/0534-0012/2014/0534-00121402621N.pdfpulmonary thromboembolismthrombophiliarisk factorsgenetic |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Nagorni-Obradović Ljudmila Maksimović Nela Miljić Predrag Cvetković Dragana Stević Ruža Pešut Dragica |
spellingShingle |
Nagorni-Obradović Ljudmila Maksimović Nela Miljić Predrag Cvetković Dragana Stević Ruža Pešut Dragica Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report Genetika pulmonary thromboembolism thrombophilia risk factors genetic |
author_facet |
Nagorni-Obradović Ljudmila Maksimović Nela Miljić Predrag Cvetković Dragana Stević Ruža Pešut Dragica |
author_sort |
Nagorni-Obradović Ljudmila |
title |
Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report |
title_short |
Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report |
title_full |
Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report |
title_fullStr |
Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report |
title_full_unstemmed |
Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report |
title_sort |
phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 g>a mutations: case report |
publisher |
Serbian Genetics Society |
series |
Genetika |
issn |
0534-0012 1820-6069 |
publishDate |
2014-01-01 |
description |
Physicians usually do not suspect pulmonary thromboembolism in younger
patients except in those who have thrombophilia. In those latter patients
some special conditions such as trauma or surgery may provoke the disease. In
some adult persons, thrombophilia may still remain unrecognized, until
appearance of additional conditions influence development of thrombosis. A
55-year-old Caucasian female, non-smoker, experienced sudden chest pain and
hemoptysis without chest trauma. History taking revealed type 2 diabetes
mellitus and hypothyroidism. She was overweight with body mass index 29.0.
The review of the family history revealed that her father and mother died of
brain infarction, while her 22-year-old son and 24-year-old daughter were
healthy. Due to suspicion for thrombosis, multi-slice computerized tomography
thorax scan was done and pulmonary embolism was diagnosed. Although without
clear risk factor for thrombosis in our patient, we performed laboratory
investigation for congenital thrombophilia. Genetic analysis showed double
heterozygous for factor V Leiden and prothrombin 20210 G>A mutations.
Congenital thrombophilia was risk factor for thrombosis in our patient but
haemostatic imbalance was not previously clinically recognized. She had two
pregnancies without complications. Appearance of other associative factors
such as endocrine disorders - hypothyroidism and metabolic syndrome with
diabetes type 2, and overweigh were additional potential triggers for
clinical manifestation of pulmonary thromboembolism in her adult age. Her
children underwent genetic analysis, too. The son was also double
heterozygous for factor V Leiden and prothrombin 20210 G>A mutations, while
daughter was heterozygous for factor V Leiden, and none had clinical signs of
thrombosis. [Projekat Ministarstva nauke Republike Srbije, br. ON175081 i br.
ON 175091] |
topic |
pulmonary thromboembolism thrombophilia risk factors genetic |
url |
http://www.doiserbia.nb.rs/img/doi/0534-0012/2014/0534-00121402621N.pdf |
work_keys_str_mv |
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