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P0337 THROMBOEMBOLISM - THE IMPORTANCE OF THE THROMBOPHILIA SCREENING
S116
Abstracts from 8th Congress of the European Federation of Internal Medicine / European Journal of Internal Medicine 20S (2009), S1–S283
which can be completed entirely within the human host. For this reason, for early diagnosis, it’s important to exanimate stool samples from 5 consecutive days. If this is unsuccessful, serologic testing is recommended.
P0335 THROMBOPHILIA. FACTOR V LEIDEN, PROTHROMBIN G2010A AND MTHFR C677T: DESCRIPTIVE ANALYSIS IN THE AREA 7
Adela F. Braña Cardeñosa 1 , María Carmen Muñoz López De Rodas 1 , Susana Asenjo Correa 2 , Elpidio Calvo Manuel 1 . 1 Servicio Medicina Interna I. Hospital Clínico San Carlos. Madrid. Spain; 2 Servico De Hematología. Hospital Clínico San Carlos. Madrid. Spain 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. Keywords: Thrombotic disease. Factor V Leiden. Prothrombin G20210A. MTHFR C677T
RDW with schizocytes), thrombocytopenia (platelets 74.000×106 /L); high LDH levels (8656U/L), and hyperbilirruminemia (T bil 1,4), normal kidney function and coagulation, negative Coombs test. The diagnostic workup during admittance revealed PA-associated atrophic gastritis (confirmed by upper digestive endocospy biopsies), almost null B12 vitamin reserve, intramedullar hemolysis, typical PA myelogram, and positive anti-IF and anti-parietal cell antibodies. She was started on life-long cianocobalimin intra-muscular reposition with normalization of the blood count. Despite the patient’s good prognosis it is mandatory a thorough follow-up, namely in what concerns the screening of other endocrine autoimmune diseases described in PAS type II, given the familial history, since these can appear only later in life. Keywords: Pernicious Anemia; Graves Disease
P0337 THROMBOEMBOLISM - THE IMPORTANCE OF THE THROMBOPHILIA SCREENING
Barbara Lobao, Sérgio Janeiro, Susana Marques, Ermelinda Pedrodo, Manuel Lourenço. Centro Hospitalar De Setúbal, Epe Venous thrombosis in young adults can occur as a consequence of inherited, acquired or environmental risk factors. Literature: shows that nearly half of the patients have thrombophilic disorders. Thrombophilias can be defined as a predisposition to, venous or occasional arterial, thrombosis due to hypercoagulability induced by hereditary or acquired haematological disorders. Coagulation inhibitory phisiological proteins (antithrombin, protein C and S) are uncommon and associated with a higher risk of venous thrombosis, while in more frequent thrombophilias (factor V Leiden and prothrombin mutation) the risk is relatively lower. When combined, heterozygotic mutation thrombophilias (factor V Leiden and prothrombin mutation) induce and potenciate venous thrombosis resulting in a risk duplication. The most common acquired thrombophilia is antiphospholipid syndrome and in young women we emphatize the use of oral anti-conceptives. Factors such as young age, absence of a precipitating factor, recurrence and family history, make the diagnosis of thrombophilic disorders even more probable. The authors therefore present a cohort of 21 patients admitted at our Internal Medicine Department ward between June of 2005 and May of 2008, with the diagnosis of pulmonary thromboembolism, to whom were performed the screening for thrombophilias. The cohort is composed by 12 women and 9 men, with a mean age of 38, having we achieved multiple causes, not only of hereditary (homozigotic and heterozigotic mutation), but also acquired thrombophilias such as paraneoplasic and antiphospholipid syndrome. With this cohort we emphasize the importance of the screening of thrombophilias in patients with a first venous thrombosis, especially in a young age.
P0338 P0336 THYROGASTRIC AUTOIMMUNITY: PERNICIOUS ANEMIA AND GRAVES DISEASE
HYPERTHYROIDISM AND ERYTHROCYTE MEMBRANE CHOLESTEROL CONCENTRATION
Jorge A Ruivo, Ana Tornada, Paula Alcantara. Hospital Santa Maria
Konstantinos Lempesopoulos 1 , Xenofon Tsarouhas 2 , Spyridon Savvanis 2 , Dimitrios Syrigos 2 , Athanasios Yalouris 2 . 1 A. Fleming General Hospital; 2 Elpis General Hospital
Pernicious anemia (PA) is the most common manifestation of B12 vitamin deficiency. It is characterized by megaloblastosis and positive anti-intrinsic factor (50%) and/or anti-parietal cell (14-21%) auto antibodies, resulting in concomitant autoimmune body atrophic gastritis and achloridria. Its prevalence among patients with thyroid autoimmune disease is 3 to 5 fold higher than that of the general population. This so-called thyrogastric autoimmunity can be part of a wider syndrome: the Polyglandular autoimmune syndrome (PAS). PAS type II typically involves co-expression of adrenal insuficiency (100%), thyroid autoimmune disease (70%), diabetes mellitus type 1 (50%), primary hypogonadism (5-50%) and PA (1%), among other conditions less frequently seen. We describe the case of a 29 years old caucasian female, with toxic goiter and disthyroid orbitopathy, following a medically treated and controlled Graves disease (GD). She had prior familial history of GD among her mother and cousin (simultaneous diabetes type 1). She had complaints about growing mucocutaneous pallor and asthenia over 2 months. On our physical exam, she was pale, tachycardic, with icteric sclerotic, bilateral symmetrical exophtalmus, and a palpable, non-tender, enlarged thyroid gland, of elastic consistency. The blood work revealed bicytopenia: normocytic normochromic anemia (6g/dL hemoglobin, MGV 97 fL, increased
Introduction: Cholesterol is a major component of the cell membrane. It plays an important role in its physiology affecting vital properties, such as membrane fluidity, cation transport, cell receptors, osmotic resistance etc. Abnormal conditions that change serum cholesterol concentration (SC) can also alter erythrocyte membrane cholesterol concentration (EMCC) possibly resulting in differentiation of several membrane functions. Objectives: To investigate whether changes in SC, usually observed in hyperthyroidism, affect EMCC. Materials and methods: 35 healthy controls (24 male, 11 female, age: 39.46±10.86) and 23 patients with hyperthyroidism (3 men, 20 women, age: 36.00±8.19) were studied. SC, EMCC, triiodothyronine (T3), thyroxine (T4) and thyroid stimulating hormone (TSH) were measured in all. Results: Serum T3 did not differ between the two groups (1.22±0.30 versus 1.10±0.24). In the patients as compared to the controls T4 was significantly (p<0.001) higher (11.51±0.59 versus 8.22±1.70) and TSH significantly (p<0.001) lower (0.12±0.06 versus 2.59±1.14). SC was significantly lower (p<0.001) in the patients (151.21±29.27) than in the controls (216.49±21.28). EMCC was also significantly lower (p<0.001) in the patients (36.08±9.95) than in the controls (145.37±17.06). The ratio of SC/EMCC was significantly (p<0.001) higher in the patients (4.68±2.23 versus 1.51±0.23). In the patients
Abstracts from 8th Congress of the European Federation of Internal Medicine / European Journal of Internal Medicine 20S (2009), S1–S283
which can be completed entirely within the human host. For this reason, for early diagnosis, it’s important to exanimate stool samples from 5 consecutive days. If this is unsuccessful, serologic testing is recommended.
P0335 THROMBOPHILIA. FACTOR V LEIDEN, PROTHROMBIN G2010A AND MTHFR C677T: DESCRIPTIVE ANALYSIS IN THE AREA 7
Adela F. Braña Cardeñosa 1 , María Carmen Muñoz López De Rodas 1 , Susana Asenjo Correa 2 , Elpidio Calvo Manuel 1 . 1 Servicio Medicina Interna I. Hospital Clínico San Carlos. Madrid. Spain; 2 Servico De Hematología. Hospital Clínico San Carlos. Madrid. Spain 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. Keywords: Thrombotic disease. Factor V Leiden. Prothrombin G20210A. MTHFR C677T
RDW with schizocytes), thrombocytopenia (platelets 74.000×106 /L); high LDH levels (8656U/L), and hyperbilirruminemia (T bil 1,4), normal kidney function and coagulation, negative Coombs test. The diagnostic workup during admittance revealed PA-associated atrophic gastritis (confirmed by upper digestive endocospy biopsies), almost null B12 vitamin reserve, intramedullar hemolysis, typical PA myelogram, and positive anti-IF and anti-parietal cell antibodies. She was started on life-long cianocobalimin intra-muscular reposition with normalization of the blood count. Despite the patient’s good prognosis it is mandatory a thorough follow-up, namely in what concerns the screening of other endocrine autoimmune diseases described in PAS type II, given the familial history, since these can appear only later in life. Keywords: Pernicious Anemia; Graves Disease
P0337 THROMBOEMBOLISM - THE IMPORTANCE OF THE THROMBOPHILIA SCREENING
Barbara Lobao, Sérgio Janeiro, Susana Marques, Ermelinda Pedrodo, Manuel Lourenço. Centro Hospitalar De Setúbal, Epe Venous thrombosis in young adults can occur as a consequence of inherited, acquired or environmental risk factors. Literature: shows that nearly half of the patients have thrombophilic disorders. Thrombophilias can be defined as a predisposition to, venous or occasional arterial, thrombosis due to hypercoagulability induced by hereditary or acquired haematological disorders. Coagulation inhibitory phisiological proteins (antithrombin, protein C and S) are uncommon and associated with a higher risk of venous thrombosis, while in more frequent thrombophilias (factor V Leiden and prothrombin mutation) the risk is relatively lower. When combined, heterozygotic mutation thrombophilias (factor V Leiden and prothrombin mutation) induce and potenciate venous thrombosis resulting in a risk duplication. The most common acquired thrombophilia is antiphospholipid syndrome and in young women we emphatize the use of oral anti-conceptives. Factors such as young age, absence of a precipitating factor, recurrence and family history, make the diagnosis of thrombophilic disorders even more probable. The authors therefore present a cohort of 21 patients admitted at our Internal Medicine Department ward between June of 2005 and May of 2008, with the diagnosis of pulmonary thromboembolism, to whom were performed the screening for thrombophilias. The cohort is composed by 12 women and 9 men, with a mean age of 38, having we achieved multiple causes, not only of hereditary (homozigotic and heterozigotic mutation), but also acquired thrombophilias such as paraneoplasic and antiphospholipid syndrome. With this cohort we emphasize the importance of the screening of thrombophilias in patients with a first venous thrombosis, especially in a young age.
P0338 P0336 THYROGASTRIC AUTOIMMUNITY: PERNICIOUS ANEMIA AND GRAVES DISEASE
HYPERTHYROIDISM AND ERYTHROCYTE MEMBRANE CHOLESTEROL CONCENTRATION
Jorge A Ruivo, Ana Tornada, Paula Alcantara. Hospital Santa Maria
Konstantinos Lempesopoulos 1 , Xenofon Tsarouhas 2 , Spyridon Savvanis 2 , Dimitrios Syrigos 2 , Athanasios Yalouris 2 . 1 A. Fleming General Hospital; 2 Elpis General Hospital
Pernicious anemia (PA) is the most common manifestation of B12 vitamin deficiency. It is characterized by megaloblastosis and positive anti-intrinsic factor (50%) and/or anti-parietal cell (14-21%) auto antibodies, resulting in concomitant autoimmune body atrophic gastritis and achloridria. Its prevalence among patients with thyroid autoimmune disease is 3 to 5 fold higher than that of the general population. This so-called thyrogastric autoimmunity can be part of a wider syndrome: the Polyglandular autoimmune syndrome (PAS). PAS type II typically involves co-expression of adrenal insuficiency (100%), thyroid autoimmune disease (70%), diabetes mellitus type 1 (50%), primary hypogonadism (5-50%) and PA (1%), among other conditions less frequently seen. We describe the case of a 29 years old caucasian female, with toxic goiter and disthyroid orbitopathy, following a medically treated and controlled Graves disease (GD). She had prior familial history of GD among her mother and cousin (simultaneous diabetes type 1). She had complaints about growing mucocutaneous pallor and asthenia over 2 months. On our physical exam, she was pale, tachycardic, with icteric sclerotic, bilateral symmetrical exophtalmus, and a palpable, non-tender, enlarged thyroid gland, of elastic consistency. The blood work revealed bicytopenia: normocytic normochromic anemia (6g/dL hemoglobin, MGV 97 fL, increased
Introduction: Cholesterol is a major component of the cell membrane. It plays an important role in its physiology affecting vital properties, such as membrane fluidity, cation transport, cell receptors, osmotic resistance etc. Abnormal conditions that change serum cholesterol concentration (SC) can also alter erythrocyte membrane cholesterol concentration (EMCC) possibly resulting in differentiation of several membrane functions. Objectives: To investigate whether changes in SC, usually observed in hyperthyroidism, affect EMCC. Materials and methods: 35 healthy controls (24 male, 11 female, age: 39.46±10.86) and 23 patients with hyperthyroidism (3 men, 20 women, age: 36.00±8.19) were studied. SC, EMCC, triiodothyronine (T3), thyroxine (T4) and thyroid stimulating hormone (TSH) were measured in all. Results: Serum T3 did not differ between the two groups (1.22±0.30 versus 1.10±0.24). In the patients as compared to the controls T4 was significantly (p<0.001) higher (11.51±0.59 versus 8.22±1.70) and TSH significantly (p<0.001) lower (0.12±0.06 versus 2.59±1.14). SC was significantly lower (p<0.001) in the patients (151.21±29.27) than in the controls (216.49±21.28). EMCC was also significantly lower (p<0.001) in the patients (36.08±9.95) than in the controls (145.37±17.06). The ratio of SC/EMCC was significantly (p<0.001) higher in the patients (4.68±2.23 versus 1.51±0.23). In the patients