Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report
2014
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]
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