Téma:  Case Studies

Pulmonary embolism in a young man with combined inherited trombophilia - factor v leiden mutation and metylenetetrahydrofolat reductase (mthfr) c677t mutation case report and review

Oľga Jurkovičová, Ľubomír Fľak, Igor André

We present a case of a young man aged 31 years with positive family history of venous thromboembolism (VTE) in whom pulmonary embolism (PE) is occurred. PE was caused due to inherited thrombophilia - the pacient was found to be a homozygous carrier for the factor V Leiden mutation and a heterozygous carrier for methylenetetrahydrofolate reductase (MTHFR) C677T. Two family members - patient´s mother and brother were heterozygotes for the factor V Leiden mutation. In patient mild hyperhomocysteinemia and slight protein S deficiency were also observed. Usual triggering or risk factors that could predispose to PE were absent. The source of PE was also not found. The patient had no clinical or ultrasonograhpic signs of deep venous thrombosis of the legs, which is the most common surce of PE. A course of PE was complicated with assocciated probably secondary pleuropneumonia, which has significantly prolonged the hospital stay. In discussion we direct attention to the diagnosis and screening of inherited thrombophilia and the mutation of factor V Leiden and to the optimal therapy of acute VTE episode and prevention of its reccurrence.

Ročník 2006  Témy časopisu Internal medicine 12 / 2006

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