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ey0021.12-16 | Lipid Metabolism | ESPEYB21

12.16. Evinacumab for pediatric patients with homozygous familial hypercholesterolemia

A Wiegman , S Greber-Platzer , S Ali , MD Reijman , EA Brinton , MJ Charng , S Srinivasan , C Baker-Smith , S Baum , JA Brothers , J Hartz , PM Moriarty , J Mendell , S Bihorel , P Banerjee , RT George , B Hirshberg , R Pordy

Homozygous familial hypercholesterolemia (HoFH) is a severe disorder caused by genetic mutations in LDLR (encoding the LDL receptor), APOB or PCSK9. LDL-C levels in HoFH are extremely elevated)>400 mg/dL(even in utero, leading to cardiovascular events, and disability or death during childhood and adolescence. Conventional medications have minimal efficacy, since LDL-C levels cannot be reduced through upregulation of hepatic LDL receptors.<p c...

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ey0018.3-13 | Clinical studies | ESPEYB18

3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

S Groeneweg , FS van Geest , A Abacı , A Alcantud , GP Ambegaonkar , CM Armour , P Bakhtiani , D Barca , ES Bertini , IM van Beynum , N Brunetti-Pierri , M Bugiani , M Cappa , G Cappuccio , B Castellotti , C Castiglioni , K Chatterjee , IFM de Coo , R Coutant , D Craiu , P Crock , C DeGoede , K Demir , A Dica , P Dimitri , A Dolcetta-Capuzzo , MHG Dremmen , R Dubey , A Enderli , J Fairchild , J Gallichan , B George , EF Gevers , A Hackenberg , Z Halasz , B Heinrich , T Huynh , A Kłosowska , MS van der Knaap , MM van der Knoop , D Konrad , DA Koolen , H Krude , A Lawson-Yuen , J Lebl , M Linder-Lucht , CF Lorea , CM Lourenco , RJ Lunsing , G Lyons , J Malikova , EE Mancilla , A McGowan , V Mericq , FM Lora , C Moran , KE Muller , I Oliver-Petit , L Paone , PG Paul , M Polak , F Porta , FO Poswar , C Reinauer , K Rozenkova , TS Menevse , P Simm , A Simon , Y Singh , M Spada , J van der Spek , MAM Stals , A Stoupa , GM Subramanian , D Tonduti , S Turan , CA den Uil , J Vanderniet , A van der Walt , JL Wemeau , J Wierzba , MY de Wit , NI Wolf , M Wurm , F Zibordi , A Zung , N Zwaveling-Soonawala , WE Visser

Lancet Diabetes Endocrinol. 2020;8:594605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...

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ESPE Yearbook of Paediatric Endocrinology

12.16. Evinacumab for pediatric patients with homozygous familial hypercholesterolemia

3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

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