Dragana Cvetkovic

Dragica Pesut

Ljudmila Nagorni-Obradovic

Nela Maksimovic

Predrag Miljic

Ruza Stevic

Genetika

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&gt;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&gt;A mutations, while
   daughter was heterozygous for factor V Leiden, and none had clinical signs of
   thrombosis.</jats:p

Crossref

Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G&gt;A mutations: Case report

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

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

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