Evaluation of etiological factors in young patient with atypically localized trombosis

Introduction: Thrombosis, which occurring with distortion on anticoagulant and procoagulant balance by a hereditary or acquired risk factor, causes symptoms according to the settlement place. Thrombosis is a major cause of morbidity and mortality. Thrombosis detected early and unexpected area is described as atypical thrombosis. Hereditary thrombophilia at an early age, can cause abnormal lacalized or recurrent attack of thrombosis. Inheritable factors such as protein-C and protein-S deficiencies, antithrombin III deficiency, PAİ-1 gene mutations, factor V Leiden mutation and mutation of prothrombin gene can be found in etiology of thrombosis and acquired factors such as trauma, pregnancy, immobility, cancer, PNH, myeloproliferative diseases, surgery, hypertension, diabetes can be found alone or with hereditary risk factors in etiology of thrombosis as multiple risk factors. Aim of this study is to determine the etiologic risk factors for atypical thrombosis. Material-Method: 50 patients (32 F/ 18 M) included in this study. Patient files are scanned in this study retrospectively; allless than 40 years of age with thrombosis and atypical localization of thrombosis in patients of any age range were chosen. Patients under 16 years of age excluded from the study. Etiologic risk factors for atypical thrombosis were screened for inherited and acquired causes. Prominent risk factors according to thrombosis localization were investigated. The statistical analyses of the results obtained from this study performed by using SPSS (statistical package for social science) for Windows 18. Variable frequency tables were created for evaluation of the data. Results were given as mean +-SD and percentage (%). According to diagnostic groups as to whether the different average of the numerical variables were tested by ANOVA. The Chi-Square test was used for categorical variables. P < 0.05 was considered statistically significant. Findings: All thrombosis in young (under 40 year of age) and with all atypical localized thrombosis or recurrent in any age range of 32 women (64 %) and 18 men (36 %) patients were included this study. The mean of women's ages; 34.78 ± 14.34. The mean of men's ages; 36.22 ± 12.41. The mean of ages of all patients was 35.22±13.56. 12 of patients were over 40 years of age (24 %) and 38 of patients were under 40 years of age (76%) who included in this study. The 5 of over 40 years of age patients were male (10%) and 7 of them were female (14%). The 13 of under 40 years of age patients were male (26%) and 25 of them were female (50 %). Patients enrolled in the study; MTHFR C677T 8 (16%) patients with homozygous and 4 (8%) were heterozygous patients, MTHFR A1298C 8 (16%) were homozygous and 12 patients (24%) heterozygous and 6 (12 %) were heterozygous with the patient. In 7 of the patients in this study (14%) it had developed thrombosis after oral contraceptive use. Thrombosis after surgery was found in 6 patients (12%). Thrombosis developed on 1 patient (2%) during pregnancy. Thrombosis after immobilization was detected in 1 patient (2%). Hypertension detected in 2 (4 %). Thrombocytosis was found in 7 patients (14%) and 4 (8%) of patients with JAK2 mutation was accompanied. Malignancy was seen in 1 patient (2%). Thalassemiamajor was seen in 1 (%2) patient. SLE diagnose was seen in 1 patient (2%). Fac-V Leiden Mutation was found in 3 patients (6%). Protein-S deficiency was seen in 1 patient (2%). Antithrombin III deficiency was seen on 2 patients (4%). Prothrombin gene mutation was found heterozygous in 2 patients (4%). Fibrinogen-I was found high in 1 patient (2%). Lupus Anticoagulant detected high in 2 patients (4%). PAI-1 gene mutation was detected in 5 (10%) patients. Hereditary and acquired risk factors were found together in 31 patients (62%). There was no hereditary and acquired risk factor in 6 of patients (12%). Result: As a result, atypical thrombosis is a disease of complex etiology can detect a combination of hereditary and acquired risk factors. Abdominal thrombosis should be evaluated in term of myeloproliferative diseases. The using of oral contraceptives increase the risk of thrombosis in women with underlying genetical risk factors. It has detected thrombosis can seen in female more than male sex because of pregnancy, confinement or using oral contraceptives. Keywords: Atypical Thrombosis, Thrombophilia