Gaius Iulius Caesar 101/100 BC
Hypatìa 335/370 AC
Roma - Imperial Age - IV Century AC
XLI Annual ESAO Congress European Society for Artificial Organs ROMA September 17-20, 2014
Gaius Iulius Caesar Octavianus Augustus 63 BC
Roma – 2014 – Fuskas Cloud – New Congress Centre
Highlights and problems of clinical lipoprotein apheresis Claudia Stefanutti
Financial disclosure
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Claudia Stefanutti had consulting agreements with Kaneka NV Europe and Fresenius Medical Care Germany, as Speaker. She was given research grants by the above mentioned companies
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Claudia Stefanutti had consulting agreements with Aegerion, as Speaker. She was the PI in Rome during the Phase III multinational CT on Lomitapide treatment of HoFH
LA: highlights and problems (Issues) Homozygous Familial Hypercholesterolaemia Early treatment (children) Imaging of coronary arteries and aortic valves
Novel Lipid-lowering drugs Lomitapide (HoFH) PCSK9 Inhibitors (HeFH and HyperLp(a)lipoproteinaemia) Combination therapy
Lp(a)apheresis
International networking Lipoprotein effects on inflammatory parameters Not to be discussed
FH is underdiagnosed, so current incidence rates underestimate the scale of the disease Extrapolations indicate that 14–34 million people worldwide may suffer from FH
Nordestgaard BG, et al. Eur Heart J 2013. doi:10.1093/eurheartj/eht273
FH and HoFH Heterozygous FH:
One defective allele – historically reported estimated prevalence 1/5001
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Homozygous FH: •
Both alleles defective – historically reported estimated prevalence 1/1,000,0002
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Emerging studies indicate that FH might be more common than previously thought, in the region of 1/300 and therefore HoFH is also more prevalent 3,4
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Founder effects make the prevalence of HoFH more common in certain populations, who are descended from relatively small founding populations.
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For example, cross-sectional surveys have estimated a prevalence of FH that ranges from 1 person/30,000 in a South African Afrikaners population to 1 person/270,000 in the French-Canadian population, and to 1 person/640,000 in the Dutch population5,6,7
1. Goldstein, JL et al. (2001). The Metabolic and Molecular Basis of Inherited Disease. 2. Moorjani, S. et al. (1993). Lancet 341(8856): 1303-1306 3. Benn, M. et al. (2012). Journal Clinical Endocrinology Metabolism. 97(11):3956–3964. 4. Goldberg AC et al, J Clin Lip.(2011);5(3 Suppl):S1-S8. 5. Moorjani S, et al. Arteriosclerosis. Mar-Apr 1989;9(2):211-216. 6. Kusters DM. et al. (2011) Netherlands Heart Journal. 19(4):175-182. 7. Seftel HC, et al. (1980) British Medical journal. 281(6241):633-636.
FH homozygotes (frequencies) NORTHERN ITALY 1: 2.814.000 CENTRAL ITALY 1: 2.500.000
SOUTHERN ITALY 1: 580.000 ITALIAN ISLANDS 1: 551.000
Courtesy of Prof. S. Bertolini
Homozygous Familial Hypercholesterolemia (Lipo Pheno: IIa) GV ♂ : 4 years
Father: 44 / Mother: 39 TC 400 mg/dL;TC 350 mg/dL Heterozygous FH
♀ 14 years Heterozygous FH
GV ♂ 4yrs Homozygous FH TC:1145 mg/dL HDLC: 58 mg/dL LDLC: 1056 mg/dL TG: 153 mg/dL
♀ 14 years Heterozygous FH
C.MA.†, 8 yrs., HOMOZYGOUS FH “FH-Palermo 1” GGTGAT (Ex 11) residual LDL-receptor activity :
