PHD theses : Medical Laboratory Science

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    Prevalence of Inherited Thrombophilia for the development of Thrombotic Cerebrovascular Accidents (CVAs) in Sudanese patients
    (Neelain University, 2013) ABDELGADIR HAG ELAGIB OMER
    English Abstract Prevalence of Inherited thrombophilia for the development of thrombotic Cerebrovascular Accidents (CVAs) in Sudanese patients Background: Cerebrovascular accidents (CVAs) represent a major cause of death and disability among middle-aged people. Cigarette smoking, alcohol intake, hypertension, diabetes mellitus, hyperlipidemia and heart disease are known predisposing factors for the development of thrombotic Cerebrovascular accidents (CVAs). In industrialized countries, one in six patients die in the first months following ischaemic stroke, and half of survivors are permanently disabled despite best efforts to rehabilitate them and to prevent complications. Optimization of the early, and ongoing, management of patients with acute ischaemic stroke is pivotal to the reduction of both case fatality and long-term disability. Thrombotic cerebrovascular Accidents (CVAs) are an important cause of morbidity and mortality and marked disability in Sudanese patients, but data about possible causes is lacking here and in other developing countries. Fifty percent of stroke patients presenting to El-Shaab Teaching Hospital, the central referral neurology hospital, are <50 years. Patients with thrombotic cerebrovascular Accidents (CVAs) commonly end up with major disabilities (paralysis) so they became handicapped and consequently non- productive. A hypercoagulable state (thrombophilia) is an important cause of CVAs in patients <50 years. Presence of a group of auto-antibodies known as antiphospholipids (Lupus Anticoagulant and Anticardiolipin antibodies) together with deficiency of natural anticoagulants (PC, PS and ATII) is important known causes of thrombotic cerebrovascular Accidents (CVAs). The prevalence of inherited thrombophilias, factor V Leiden (FVL), prothrombin (PT- 202l0AG) and methylenetetrahydrofolate reductase (MTHFR) gene mutation and natural anticoagulants (PC, PS and ATIII) is not yet known. The objective of this study was to determine the prevalence of three major potential gene polymorphisms factor FV Gl69la (Leiden), prothrombin (PT-202l0AG) and methylenetetrahydrofolate reductase (MTHFR ) C677T) mutations together with auto- antibodies antiphospholipids (Lupus Anticoagulant and Anticardiolipin antibodies) deficiencies of natural anticoagulants (PC, PS and ATIII) as risk factors for the development of thrombotic Cerebrovascular Accidents (CVAs) in Sudanese patients. In addition to that other laboratory parameters are also evaluated. Early detection of predisposing factors of CVAs through regular screening of patients at risk can reduce morbidity and improve management. Following informed consent, 200 patients of both sexes and with an age of <50 years with confirmed CVAs due to thrombosis were enrolled in the study. Comparable healthy controls (n= 300) age and sex matched were selected from medical staff and students. Full blood counts, PT, APTT, TCT, Protein C, Protein S, ATIII levels were conducted for patients and controls. Screening for anticardiolpin and mixing coagulation for antiphospholipid tests were also conducted (anti-phospholipids screening). Haematological, coagulation & immunological findings of patients and the controls were comparable. Antiphospholipids were found negative. PC, PS & ATIII, were significantly lower in all patients compared to controls (p=0. 04), (u=0.04) and (p=0.02) respectively. Females were affected more than males in the study. PC, PS & ATIII were found low in female patients compared to female controls (p=0.0I), (p=0.03) & (p=0.0I). The commonest mutation was found to be FV Leiden (FVL) which was seen in 37 patients (37%), (33% heterozygous, 4% homozygous), followed by Prothrombin (PTH) which was seen in 4 patients (4%), (0% homomzygous, 4% heterozygous) followed by (MTHFR) which was seen in 2 patients (2%), (0% heterozygous, 2% homozygous). Control subjects showed negative results. Over all the inherited thrombophilia in all patients was 43%, out of I00 patients. Fifiy seven patients showed negative results, The genotype of our patients showed heterozygosity in 39 of them (39%), homozygosity in 4 (4%), the details are shown in table (3.3.6). In conclusion, PC, PS & ATIII deficiency and inherited thrombophilia could be a possible cause of increased incidence of thrombotic Cerebrovascular Accidents (CVAs) among Sudanese patients <50 years. The predominance of females in the study group could not be explained. Further studies are needed to verify our suggested explanation.