3. Electronic Theses and Dissertations (ETDs) - All submissions

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    Statins and other lipid-lowering therapy and pregnancy outcomes in homozygous familial hypercholesterolaemia – a retrospective review of 39 pregnancies.
    (2018) Botha, Theunis Christoffel
    BACKGROUND: Pregnancy in homozygous familial hypercholesterolaemia (HoFH) females is associated with further elevation of already markedly elevated low density lipoprotein cholesterol (LDL-C) levels, particularly if lipid-lowering therapy is discontinued, placing the mother and fetus at increased cardiovascular risk. Lipoprotein apheresis (LA) is the current recommended treatment for pregnant HoFH patients. However, this is costly, time consuming, and is not available in many countries. Alternative treatment strategies to control hypercholesterolaemia during pregnancy in HoFH patients are necessary. The aim of this study was to assess pregnancy outcomes in a cohort of female HoFH patients, many of whom received statins with or without other lipid lowering therapy. METHODS: This study was a retrospective review of 39 pregnancies from a cohort of 20 genotypically confirmed female HoFH patients. Demographic, clinical, laboratory and treatment information, particularly the use of medication during pregnancy, was extracted from hospital files. Either patients themselves or a close, surviving family member were contacted directly to obtain informed consent for anonymized data collection and additional information. We compared birth weights of statin exposed and statin unexposed infants with the Mann Whitney U test and utilized a one tailed t-test to compare lipid levels, prior to, and following pregnancy. We considered p <0.05 significant RESULTS: No maternal cardiac complications or deaths occurred during the pregnancies or during the first year postpartum. Twenty-five pregnancies were exposed to lipid-lowering therapy, of which 18 were exposed to statin therapy, just prior to or during the pregnancy. Thirty-three (84%) pregnancies carried to term, 3 (8%) premature deliveries and 3 (8%) miscarriages were observed. Complications associated with pregnancy in these HoFH patients, did not differ from those reported during pregnancies of otherwise healthy woman. CONCLUSION: HoFH is a severe disease impacting significantly on life expectancy. However, for many females with HoFH, despite the high cardiovascular risk, pregnancy is not uncommon. In resource poor settings and when LA is not available, lipid lowering therapy, particularly statin therapy during pregnancy, appears to be safe for both mother and fetus and is an acceptable alternative for LDL-C reduction in these high risk patients.
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    Ocular findings in patients with homozygous familial hypercholesterolaemia
    (2017) Goberdhan, Adisha
    Homozygous familial hypercholesterolaemia is a fatal disease if untreated and has a high prevalence of premature coronary artery disease. Ocular findings may help with earlier identification and coronary artery disease risk stratification. Objectives: The primary objective was to determine ocular findings in patients with homozygous familial hypercholesterolaemia. The secondary objective was to correlate ocular findings with clinical and biochemical data. Design and Method: A cross-sectional study was conducted in 2011. Thirty patients were recruited from the Lipid Clinic at Charlotte Maxeke Johannesburg Academic Hospital. Results: Xanthelasma palpebrarum, corneal arcus, retinal arteriosclerosis and visual field defects were detected. Xanthelasma palpebrarum and corneal arcus were common in patients with overt coronary artery disease. Conclusion: In addition to well-known ocular features of hyperlipidaemia, i.e. xanthelasma palpebrarum, corneal arcus and retinal arteriosclerosis, we detected visual field defects. The assessment of xanthelasma palpebrarum and corneal arcus may help to prognosticate coronary artery disease risk.
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    Endothelial dysfunction in familial hypercholesterolaemia
    (2004-05-25) Brown, Susan, Lynn
    Untreated patients with heterozygous familial hypercholesterolaemia (hFH) are at increased risk for atherosclerosis. Surrogate markers to predict atheroma include the presence of endothelial dysfunction (ED) as well as increased levels of inflammatory markers
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    The in-vitro effect of ridogrel on platelet function in normocholesterolaemic subjects and familial hypercholesterolaemic subjects
    (1996-03) Naran, Nitien, Hira.
    Familial hypercholesterolaemia IIa (F. H. IIA) is a congenital disorder characterized by a raised plasma level of low density lipoprotein (LDL). Platelets in this condition have been found to be hypersensitive to aggregating agents and to produce increased amounts of thromboxane A2.These modifications of platelet function and biochemistry may play an important role in the occurrence of premature atherosclerosis and myocardial infarction in adolescence and young adults.
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