Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Background: Dyslipidaemia is a major health problem among children which can lead to significant cardiovascular disease. Dyslipidemia could be primary which include familial hypercholestrolemia, familial hypertriglyceridemia and combined dyslipidemia or secondary to organ failure or drugs. Manifestations include xanthomas, xanthelasmata arcus cornae and rarely lipemia retinalis, but it may be asymptomatic. Complications include cardiovascular disease (diastolic dysfunction of both ventricles and atherosclerosis of the aortic root) and acute pancreatitis in case of hypertriglyceridemia. Treatment includes diet therapy, statins for hypercholestrolemia and fibrates for hypertriglyceridemia. Screening is very important to detect silent cases and prevent future complications. Methodology: Thirty children (15 males and 15 females) with dyslipidemia (25 cases with primary dyslipidemia and 5 cases with secondary dyslipidemia) were included. The cases were subjected to history taking and clinical assessment. Lipid profile was done for all cases and their relatives. Abdominal ultrasound and echocardiography were also done. Results: The median age of studied cases was 6.5 years, with a range of (1:16) years. Fifteen cases (50%) were males and 15 cases (50%) were females. Family history was present in 13 cases (43%). Seventy percent of cases had consanguineous parents. Thirty four percent of cases were accidently discovered while 40% were discovered during screening of the patients relatives. Xanthomas were present in 30%, xanthelasmata in 20% and arcus cornae in 33% of cases but no cases had lipemia retinalis. Fatty liver was detected in 40% of cases

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