Leg Ulcer and Thrombophilia

Overview

The case report presents a patient with 10-year history of simultaneous chronic postthrombotic syndrome of the left leg with ulcerations and peripheral arterial atherosclerosis with haemodynamically important stenosis on both lower legs. Molecular genetic examination revealed mutation D/D in angiotensin converting enzyme (ACE); physiological genotype apolipoprotein E: apoE 3/2. Patient was heterozygous in three thrombophilic genes: prothrombin, methylenetetrahydrofolate reductase and plasminogen activator inhibitor I (PAI-I) which play important role in the pathogenesis of the disease. We might suppose that increased thrombophilic status determined by the presence of clinically important polymorphisms of three thrombofilic genes plays the decisive role in the pathogenesis of clinical picture. Supposedly the disruption of continual fibrinolysis due to interaction between genes ACE and PAI-I which were determined in pathological genotypes is the most important etiopathogenetically. The team-work of dermatologist, angiologist, cardiologist and haematologist with advanced laboratory diagnostics enables better etiopathogenetically based therapeutic approaches.

Key words:
inherited thrombophilic status – 5 genes: prothrombin, MTHFR (methyleneterahydrofolate reductase), PAI-I (plasminogen activator inhibitor I), ACE (angiotensin converting enzyme) and apo E (apolipoprotein E) – leg ulcer – peripheral arterial disease