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Created with Fabric.js 1.4.5 Statins,Nicotinic acid (limited effectivity)2 new drugs: - mipomersen - lomitapide WHAT IS IT? HYPERCHOLESTEROLEMIA FAMILIAL THERE ARE 2 TYPES: Homozygous Heterozygous Both LDL-receptor alleles. DEFINITION OCCURRENCE LDL cholesterol > 13 mmol/l. Single LDL-receptor allele. LDL cholesterol: 5 - 12 mmol/l 1 in 1000 000 world wide 1 in 500 world wide TREATMENT Statins (highly effective)Bile acid sequestrantsNicotinic acid LDL apheresis Low fat, Low cholesterol diet 1 in 100 in South Africa Biweekly apheresis Liver transplantation (highly effective) 1 in 30 000 in South Africa Atherosclerosis (aggravated formation) Psoriasis Valvular heart disease (especially aortic sclerosis) High LDL cholesterol Cutaneous/tendinous xanthomas (especially Achilles) Corneal arcus & xanthelasmas An inheritable, autosomal dominantdisorder that alters the livers ability to clear circulating LDL from the blood. MORBIDITIES CLINICAL SIGNS MUTATION REFERENCES 1. Raal FJ, Pilche GJ, Panz VR, Van Deventer HE, Brice BC, Blom DJ, et al. Reduction of mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. J Am Heart Assoc. 2011;124:2202-2207.2. Brown WV, Rader DJ, Goldberg AC. JCL Roundtable: Drug treatment of severe forms of familial hypercholesterolemia. J Clin Lipidol. 2014;8(1):10-17.3. Hovingh GK, Davidson MH, Kastelein JJP, O'Connor AM. Diagnosis and treatment of familial hypercholesterolaemia. Eur Heart J. 2013 Feb, :962-971.4. Wu S, Li WQ, Han J, Sun Q, Qureshi AA. Hypercholesterolemia and risk of incident psoriasis and psoriatic arthritis in US women. Arthritis Rheumatol. 2014 Feb; 66(2):304-10. LIFE EXPECTANCY < 20 years Normal, with proper treatment Percentage of ischaemic heartdisease caused by dyslipidaemia Percentage of ischaemic stroke caused by dyslipidaemia Dyslipidaemias Other causes KEY: (more commonly in white Afrikaners) (more commonly in white Afrikaners)
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