Zamparini, Jarrod Mario2019-09-052019-09-052017https://hdl.handle.net/10539/28038A research report submitted to the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, in partial fulfillment of the requirements for the degree of Master of Medicine in the branch of Internal Medicine Johannesburg, 2017Background Patients with Homozygous Familial Hypercholesterolaemia (HoFH) experience significant vascular calcification early in life, the cause of which appears to be multifactorial but is, as yet, not fully understood. Patients with chronic kidney disease (CKD) undergo similar vascular calcification, with fibroblast growth factor (FGF-23) implicated in the vascular calcification observed in these patients. Objectives The objectives of the study were to determine whether there was a difference in FGF-23 between patients with HoFH and age- and gender-matched controls and to determine whether there is a correlation between serum lowdensity lipoprotein (LDL) cholesterol and serum FGF-23 in patients with HoFH. Methods The study was a cross-sectional review involving 30 patients with HoFH, who follow up at the Charlotte Maxeke Johannesburg Academic Hospital Lipid Clinic, as well as 30 age- and gender-matched controls. Serum was analysed to obtain measures of FGF-23, Total Cholesterol, LDL cholesterol, calcium and phosphate. B-mode ultrasonography of the carotid arteries was carried out on the patient cohort. All data collected were analysed according to the study objectives. Results Thirty patients with HoFH were included in the study as well as 30 age- and gender-matched controls. There was no statistically significant difference in mean FGF-23 between the patient and control groups (62.07 ± 26.42pg/ml versus 63.69 ± 19.84pg/ml; p=0.4621) nor was there any statistically significant correlation between FGF-23 and LDL Cholesterol (p=0.9483 and 0.8474), Total Cholesterol (p=0.9261 and 0.859), calcium (p=0.6187 and 0.4321) or phosphate (p=0.4081 and p=0.3575) for patient and control groups respectively. In the patient group, FGF-23 did not correlate significantly with any cardiovascular disease including premature coronary artery disease (p=0.4516), aortic valve replacement (p=0.4791) or carotid artery calcification (p=0.3061). Conclusion Serum FGF-23 is not elevated in patients with HoFH when compared to nonFH age- and gender-matched controls and there is no statistically significant correlation between serum FGF-23 and cardiovascular disease in patients with HoFH.enThesis