{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T20:10:02Z","timestamp":1768421402443,"version":"3.49.0"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","license":[{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0505_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Investigation of the efficacy of the angiopoietin-like protein 3 (ANGPTL3) antibody evinacumab in a four-year-old infant with homozygous familial hypercholesterolemia (HoFH) as an adjunct to lipid apheresis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0505_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A two-year-old boy was found to have xanthomas of the Achilles tendon and LDL cholesterol levels around 900\u202fmg\/dL. HoHF was subsequently confirmed by molecular genetics. At the age of three, lipid apheresis was started twice a week. At the age of four, a four-weekly infusion of evinacumab was started. This resulted in a 67\u202f% reduction in LDL cholesterol before apheresis, allowing the frequency of apheresis to be reduced to once a week. The mean LDL concentration fell by a further 37\u202f% despite the reduction in apheresis. With the addition of ezetimibe, the mean LDL concentration was reduced to below 115\u202fmg\/dL.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0505_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The administration of evinacumab can significantly lower the concentration of LDL cholesterol in infants and thus reduce the frequency of lipid apheresis.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0505","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T18:21:41Z","timestamp":1739989301000},"source":"Crossref","is-referenced-by-count":1,"title":["Evinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia"],"prefix":"10.1515","author":[{"given":"Christian","family":"Stirnkorb","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology , Olga-Hospital, Clinic of Stuttgart , Stuttgart , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Verena","family":"Ney","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology , Olga-Hospital, Clinic of Stuttgart , Stuttgart , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[{"name":"Medizinische Genetik Mainz , Limbach Genetics , Mainz , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3378-2160","authenticated-orcid":false,"given":"Martin","family":"Bald","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology , Olga-Hospital, Clinic of Stuttgart , Stuttgart , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,2,20]]},"reference":[{"key":"2025021918213635308_j_jpem-2024-0505_ref_001","doi-asserted-by":"crossref","unstructured":"Ashraf, AP, Sunil, B, Bamba, V, Breidbart, E, Cheema Brar, P, Chung, S, et al.. Case studies in pediatric lipid disorders and their management. J Clin Endocrin Metab 2021;106:3605\u201320. https:\/\/doi.org\/10.1210\/clinem\/dgab568.","DOI":"10.1210\/clinem\/dgab568"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_002","doi-asserted-by":"crossref","unstructured":"Elkins, C, Fruh, S, Jones, L, Bydalek, K. Clinical practice recommendations for pediatric dyslipidemia. J Pediat Health Care 2019;33:494\u2013504. https:\/\/doi.org\/10.1016\/j.pedhc.2019.02.009.","DOI":"10.1016\/j.pedhc.2019.02.009"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_003","doi-asserted-by":"crossref","unstructured":"Hu, P, Dharmayat, KI, Stevens, CAT, Sharabian, MTA, Jones, RS, Watts, GF, et al.. Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease. A systematic review and meta-analysis. Circulation 2020;141:1742\u201359. https:\/\/doi.org\/10.1161\/circulationaha.119.044795.","DOI":"10.1161\/CIRCULATIONAHA.119.044795"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_004","doi-asserted-by":"crossref","unstructured":"Cuchel, M, Raal, FJ, Hegele, RA, Al-Rasadi, K, Arca, M, Averna, M et al.. Update on European atherosclerosis society consensus statement on homozygous familial hypercholesterolaemia: new treatments and clinical guidance. Eur Heart J 2023;44:2277\u201391, https:\/\/doi.org\/10.1093\/eurheartj\/ehad197.","DOI":"10.1093\/eurheartj\/ehad197"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_005","doi-asserted-by":"crossref","unstructured":"Widhalm, K, Binder, CB, Kreissl, A, Aldover-Macasaet, E, Fritsch, M, Kroisboeck, S, et al.. Sudden death in a 4-year-Old Boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia. J Pediatr 2011;158:167. https:\/\/doi.org\/10.1016\/j.jpeds.2010.06.027.","DOI":"10.1016\/j.jpeds.2010.06.027"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_006","doi-asserted-by":"crossref","unstructured":"Sunil, B, Foster, C, Wilson, DP, Ashraf, AP. Novel therapeutic targets and agents for pediatric dyslipidemia. Ther Adv Endocrinol Metab 2021;12:1\u201320. https:\/\/doi.org\/10.1177\/20420188211058323.","DOI":"10.1177\/20420188211058323"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_007","doi-asserted-by":"crossref","unstructured":"Kayikcioglu, M, Tokgozoglu, L. Current treatment options in homozygous familial hypercholesterolemia. Pharmaceuticals 2023;16:64. https:\/\/doi.org\/10.3390\/ph16010064.","DOI":"10.3390\/ph16010064"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_008","doi-asserted-by":"crossref","unstructured":"Reijman, MD, Kuster, DM, Groothoff, JW, Arbeiter, K, Dann, EJ, de Boer, LM, et al.. Clinical practice recommendations on lipoprotein apheresis for children with homozygous familial hypercholesterolaemia: an expert consensus statement from ERKNet and ESPN. Atherosclerosis 2024;392:117525. https:\/\/doi.org\/10.1016\/j.atherosclerosis.2024.117525.","DOI":"10.1016\/j.atherosclerosis.2024.117525"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_009","doi-asserted-by":"crossref","unstructured":"Kersten, S. ANGPTL3 as therapeutic target. Curr Opin Lipidol 2021;32:335\u201341. https:\/\/doi.org\/10.1097\/mol.0000000000000789.","DOI":"10.1097\/MOL.0000000000000789"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_010","doi-asserted-by":"crossref","unstructured":"Dewey, FE, Gusarova, V, Dunbar, RL, O\u2019Dushlaine, C, Schurmann, C, Gottesman, O, et al.. Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease. N Engl J Med 2017;377:211\u201321. https:\/\/doi.org\/10.1056\/nejmoa1612790.","DOI":"10.1056\/NEJMoa1612790"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_011","doi-asserted-by":"crossref","unstructured":"Raal, FJ, Rosenson, RS, Reeskamp, HGK, Kastelein, JJP, Rubba, P. Evinacumab for homozygous familial hypercholesterolemia. N Engl J Med 2020;383:711\u201320. https:\/\/doi.org\/10.1056\/nejmoa2004215.","DOI":"10.1056\/NEJMoa2004215"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_012","doi-asserted-by":"crossref","unstructured":"Wiegman, A, Greber-Platzer, S, Ali, S, Reijman, D, Brinton, EA, Charng, MJ, et al.. Evinacumab for pediatric patients with homozygous familial hypercholesterolemia. Circulation 2024;149:343\u201353. https:\/\/doi.org\/10.1161\/circulationaha.123.065529.","DOI":"10.1161\/CIRCULATIONAHA.123.065529"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_013","doi-asserted-by":"crossref","unstructured":"Gaudet, D, Greber-Platzer, S, Reeskamp, LF, Iannuzzo, G, Rosenson, RS, Saheb, S, et al.. Evinacumab in homozygous familial hypercholesterolaemia: long-term safety and efficacy. Eur Heart J 2024;45:2422\u201334. https:\/\/doi.org\/10.1093\/eurheartj\/ehae325.","DOI":"10.1093\/eurheartj\/ehae325"},{"key":"2025021918213635308_j_jpem-2024-0505_ref_014","doi-asserted-by":"crossref","unstructured":"McCrindle, B, Fornari, E, Raghuveer, G, Zhao, XQ, George, R, Putnam, W, et al.. Compassionate use of evinacumab for the treatment of homozygous hypercholesterolaemia (HoHF) in children under 5 years of age: clinical experience. 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