<abstract xmlns="http://www.w3.org/1999/xhtml"> Introduction: Deep venous thrombosis (DVT, phlebothrombosis) is a very important clinical problem with its resultant fatal pulmonary embolism (PE) as one of the possible consequences. Factor V Leiden (FV Leiden) is a genetic disorder characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk of venous thromboembolism (VTE). Homozygous carriers of the FV Leiden mutation are estimated to have an 80-fold increased lifetime relative risk of VTE. Most homozygous carriers present with VTE before 40 years of age, but some can live thrombosis-free until the sixth or seventh decade of life or even remain asymptomatic for life. Case-controlled studies of patients with cancer revealed a four-fold increase in thromboembolic occurrence in acute leukaemia, with the risk of thrombosis persisting even after remission of the disease.Case Report: The authors present a case report of the 61-year-old patient with leukaemic transformation of myelodysplastic syndrome (MDS) to acute myeloid leukaemia (AML) and development of DVT of the left leg (LL) as the first clinical manifestation of homozygous FV Leiden carrier. Due to his diagnosis it was not possible to indicate surgical treatment of DVT. After initial treatment with subcutaneous low molecular weight heparin (LMWH) and continuous intravenous application of unfractionated heparin (UFH) the deficiency of antithrombin III (AT III) potentiating the persistence of his hypercoagulable state developed. Treatment with the new oral anticoagulant - rivaroxaban, vasoprotective and antithrombotic drugs in the combination with mechanical methods of VTE prophylaxis led to a reduction in edema of left thigh and calf by 3.5 cm and 4 cm, respectively. Son of the patient experienced DVT at the age of 27 years, too.Conclusion: In this report, we describe a case of the patient with DVT during the leukaemic transformation of MDS to AML as a relatively late first clinical manifestation of homozygous FV Leiden mutation. At the same time the article deals with the clinical aspects of discussed thrombophilia in the relatives of the patient, as well as with the etiopathogenesis, pharmacologic treatment options and possible complications of DVT (PE, pulmonary hypertension and post-thrombotic syndrome).</abstract>

Introduction: Deep venous thrombosis (DVT, phlebothrombosis) is a very important clinical problem with its resultant fatal pulmonary embolism (PE) as one of the possible consequences. Factor V Leiden (FV Leiden) is a genetic disorder characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk of venous thromboembolism (VTE). Homozygous carriers of the FV Leiden mutation are estimated to have an 80-fold increased lifetime relative risk of VTE. Most homozygous carriers present with VTE before 40 years of age, but some can live thrombosis-free until the sixth or seventh decade of life or even remain asymptomatic for life. Case-controlled studies of patients with cancer revealed a four-fold increase in thromboembolic occurrence in acute leukaemia, with the risk of thrombosis persisting even after remission of the disease.Case Report: The authors present a case report of the 61-year-old patient with leukaemic transformation of myelodysplastic syndrome (MDS) to acute myeloid leukaemia (AML) and development of DVT of the left leg (LL) as the first clinical manifestation of homozygous FV Leiden carrier. Due to his diagnosis it was not possible to indicate surgical treatment of DVT. After initial treatment with subcutaneous low molecular weight heparin (LMWH) and continuous intravenous application of unfractionated heparin (UFH) the deficiency of antithrombin III (AT III) potentiating the persistence of his hypercoagulable state developed. Treatment with the new oral anticoagulant - rivaroxaban, vasoprotective and antithrombotic drugs in the combination with mechanical methods of VTE prophylaxis led to a reduction in edema of left thigh and calf by 3.5 cm and 4 cm, respectively. Son of the patient experienced DVT at the age of 27 years, too.Conclusion: In this report, we describe a case of the patient with DVT during the leukaemic transformation of MDS to AML as a relatively late first clinical manifestation of homozygous FV Leiden mutation. At the same time the article deals with the clinical aspects of discussed thrombophilia in the relatives of the patient, as well as with the etiopathogenesis, pharmacologic treatment options and possible complications of DVT (PE, pulmonary hypertension and post-thrombotic syndrome).

Coincidence of Malignancy and Congenital Thrombophilia as the Cause of Deep Venous Thrombosis - Case Report and Review of the Literature

National Centre of Haemostasis and Thrombosis, Clinic of Haematology and Transfusiology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital in Martin, Slovak Republic

MD, National Centre of Haemostasis and Thrombosis, Clinic of Haematology and Transfusiology, University Hospital, Kollarova Str. N. 2, 036 59 Martin, Slovak Republic Phone/fax: +421 43 4203842

Acta Medica Martiniana

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Introduction: Deep venous thrombosis (DVT, phlebothrombosis) is a very important clinical problem with its resultant fatal pulmonary embolism (PE) as one of...

Coincidence of Malignancy and Congenital Thrombophilia as the Cause of Deep Venous Thrombosis - Case Report and Review of the Literature

Pubblicato online: 03 ott 2014

Pagine: 16 - 24

Ricevuto: 10 lug 2014

Accettato: 28 ago 2014

DOI: https://doi.org/10.2478/acm-2014-0008

Parole chiave
deep venous thrombosis, venous thromboembolism, factor V Leiden, acute myeloid leukaemia

© by Stanclakova L.

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Coincidence of Malignancy and Congenital Thrombophilia as the Cause of Deep Venous Thrombosis - Case Report and Review of the Literature

Pubblicato online: 03 ott 2014

Pagine: 16 - 24

Ricevuto: 10 lug 2014

Accettato: 28 ago 2014

DOI: https://doi.org/10.2478/acm-2014-0008

Parole chiavedeep venous thrombosis, venous thromboembolism, factor V Leiden, acute myeloid leukaemia

© by Stanclakova L.

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
deep venous thrombosis, venous thromboembolism, factor V Leiden, acute myeloid leukaemia