P0336 THYROGASTRIC AUTOIMMUNITY: PERNICIOUS ANEMIA AND GRAVES DISEASE

Abstract

Introduction: Genetic factors, environmental and acquired, or, more commonly, the interaction between them may be responsible for thrombotic disease. Genetic factors are the most frequent mutation of the Factor V (Leiden), the gene mutation of prothrombin 20210, and the mutation of MTHFR leads to high concentrations of homocysteine. Objective: The aim of our study was to define the prevalence in the 7th CAM health area of the more frecuently thrombophilias genetic markers (factor V Leiden, prothrombin G20210A and MTHFR C677T). Materials & methods: A descriptive study was done in the 7th CAM health area, in the HCSC, between 04.01.2006 to 23.03.2007. 470 mutation result was obtained in the hematology department of HCSC and was reviewed by us. Subsequently we started with the processing and the stadistical analysis of the data. Results: The factor V Leiden was found in 9.6% of the studies (9.4% heterozygous and homozygous 0.2%) The mutation G20210A of the prothrombin gene, was detected in 7.9% (7.7% were heterozygous and 0.2% homozygous). C677T mutation of MTHFR was found in 65.4% (48.7% were heterozygous and 16.5% homozygous). Discussion & conclusion: Factor V Leiden presented a higher prevalence than expected (9.6% versus 1% -7% of expected in caucasian people and 12-40% of the series of thrombotic disease). For the prothrombin G20210A it were within the expected values (7.9% compared to 1-5% in the general population and 5% -19% of the series of the thromboembolic venous disease) Individuals homozygous carriers of the MTHFR mutation were prevalence around 16.5% of our subjects (13.7% as general population as people who suffered thrombotic disease) The prevalence found in the three mutations was slightly higher in our study compared with the general population, perhaps influenced by the method of selection of studies analyzed. At the moment, there are no conclusive studies showing an association of MTHFR with increased thrombotic risk. Could be achieved methods of identifying the carriers in those persons who have no family history in order to plan an appropriate prophylaxis of thrombotic disease. For this purpose is necessary to complete several and different studies.