RESUMO
To evaluate the thrombophilic risk factors and incidence in patients presenting at the hematology outpatient clinic for further investigation after the diagnosis of pulmonary embolism. A total of 15 cases [8 male, 7 female] with the diagnosis of pulmonary embolism and referred to hematology clinic for investigating thrombophilic risk factors were retrospectively evaluated. Thrombophilic screening tests for these patients are as follows: factor V leiden [FVL], prothrombin G20210 A [PTG] and methylentetrahydrofolate reductase [MTHFR C677 T] gene mutations, protein C [PC], protein S [PS] and antithrombin III [AT III] deficiency, active protein C resistance [APC-R], antinuclear antibodies [ANA], anti ds DNA, anticardiolipin antibodies IgM and IgG, lupus anticoagulant, homocysteine and factor VIII levels were investigated. The commonest thrombophilic defect was MTHFR C677T gene mutation [n=12] [80%].Single defect [n=4] was found at a rate of 26.6%, double defects [n=2] 13.3%, triple defects [n=5] 33.3% and four defects [n=3] 20%. One patient had no defects. In this retrospective study carried out in patients with pulmonary embolism, MTHFR gene mutation was found to be the commonest cause for hereditary thrombophilia as a single risk factor and/or together with other thrombophilic risk factors
RESUMO
Vitamin B12 deficiency may cause hematologic, gastrointestinal, psychiatric and neurological symptoms. Sub-acute combined degeneration of spinal cord, which develops in the deficiency of vitamin B12, may be reversible in case of early diagnosis and treatment. We describe the management of a 50-years old female who got admitted with pancytopenia and elevated LDH, with walking difficulties since last 15 days. B12 and folic acid levels were found in normal ranges. Megaloblastic changes were observed in the bone marrow examination. Abnormal hyperintence signal changes were observed in T2-weighed cervical spinal cord Magnetic Resonance Imaging in posterior row. Due to the high homocysteine level, treatment with parenteral B12 vitamin was initiated. Following the 3-months treatment, hematologic counts and neurological symptoms of the patient were found to be completely recovered at the control visit. Vitamin B12 deficiency should be considered for the patients with pancytopenia, elevated LDH levels and neurological symptoms, even if vitamin B12 and MCV levels are in normal ranges. Vitamin B12 deficiency should be confirmed with the additional assays, such as, the assessment of serum homocysteine and methylmalonic acid levels, and the treatment should be started promptly