{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T17:50:11Z","timestamp":1791481811503,"version":"4.3.4"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem_2026-0123_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Familial chylomicronemia syndrome (FCS) caused by apolipoprotein C-II (ApoC-II) deficiency is a rare and potentially life-threatening disorder characterized by severe hypertriglyceridemia beginning in early infancy. This study aimed to describe the clinical, biochemical, and molecular characteristics of infants with ApoC-II deficiency and to evaluate the therapeutic and diagnostic role of fresh frozen plasma (FFP).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem_2026-0123_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report three male infants from consanguineous families presenting with extreme hypertriglyceridemia (range: 3,228\u20135,802\u202fmg\/dL). All patients carried the homozygous\n                      <jats:italic>APOC2<\/jats:italic>\n                      c.55+1G&gt;C pathogenic variant. A fat-restricted diet was initiated at diagnosis; however, the rate of triglyceride reduction was insufficient for rapid metabolic stabilization. Administration of FFP (10\u202fmL\/kg twice daily for three days) resulted in marked biochemical improvement, with up to 98.3\u202f% reduction in triglyceride levels within 72\u202fh. Clinical manifestations included lactescent serum, vomiting, and eruptive xanthomas, which resolved following treatment.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem_2026-0123_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>FFP infusion provides temporary functional ApoC-II replacement, enabling rapid metabolic stabilization while supporting the diagnosis of ApoC-II deficiency in early infancy. Early recognition and timely intervention may help prevent serious complications during the establishment of definitive long-term dietary management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2026-0123","type":"journal-article","created":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T12:30:23Z","timestamp":1779107423000},"page":"939-943","source":"Crossref","is-referenced-by-count":0,"title":["Fresh frozen plasma as functional replacement therapy in early infantile ApoC-II deficiency: a molecularly confirmed case series"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5278-3364","authenticated-orcid":false,"given":"Nurcan \u00dc\u00e7\u00fcnc\u00fc","family":"Ergun","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolic Diseases and Nutrition , \u015eanl\u0131urfa Education and Research Hospital , \u015eanl\u0131urfa , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6490-2984","authenticated-orcid":false,"given":"Merve","family":"Aslanta\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases and Nutrition , \u015eanl\u0131urfa Education and Research Hospital , \u015eanl\u0131urfa , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,5,19]]},"reference":[{"key":"2026100816572543817_j_jpem-2026-0123_ref_001","doi-asserted-by":"crossref","unstructured":"Falko, JM. Familial chylomicronemia syndrome: a clinical guide for endocrinologists. Endocr Pract 2018;24:756\u201363. https:\/\/doi.org\/10.4158\/EP-2018-0157.","DOI":"10.4158\/EP-2018-0157"},{"key":"2026100816572543817_j_jpem-2026-0123_ref_002","doi-asserted-by":"crossref","unstructured":"Wolska, A, Dunbar, RL, Freeman, LA, Ueda, M, Amar, MJ, Sviridov, DO, et al.. Apolipoprotein C-II: new findings related to genetics, biochemistry, and role in triglyceride metabolism. Atherosclerosis 2017;267:49\u201360. https:\/\/doi.org\/10.1016\/j.atherosclerosis.2017.10.025.","DOI":"10.1016\/j.atherosclerosis.2017.10.025"},{"key":"2026100816572543817_j_jpem-2026-0123_ref_003","doi-asserted-by":"crossref","unstructured":"Okazaki, H, Gotoda, T, Ogura, M, Ishibashi, S, Inagaki, K, Daida, H, et al.. Current diagnosis and management of primary chylomicronemia. 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J\u00a0Clin Endocrinol Metab 2017;102:1454\u20137. https:\/\/doi.org\/10.1210\/jc.2016-3903.","DOI":"10.1210\/jc.2016-3903"},{"key":"2026100816572543817_j_jpem-2026-0123_ref_006","doi-asserted-by":"crossref","unstructured":"Miller, NE, Rao, SN, Alaupovic, P, Noble, N, Slack, J, Brunzell, JD, et al.. Familial apolipoprotein C-II deficiency: plasma lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion. Eur J Clin Invest 1981;11:69\u201376. https:\/\/doi.org\/10.1111\/j.1365-2362.1981.tb01768.x.","DOI":"10.1111\/j.1365-2362.1981.tb01768.x"},{"key":"2026100816572543817_j_jpem-2026-0123_ref_007","doi-asserted-by":"crossref","unstructured":"Heath, O, Allender, B, Smith, J, Savva, E, Spencer, L, Bannister, EG, et al.. Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis. 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Long-term clinical outcomes and management of hypertriglyceridemia in children with ApoC-II deficiency. Nutr Metabol Cardiovasc Dis 2024;34:1798\u2013806. https:\/\/doi.org\/10.1016\/j.numecd.2024.02.006.","DOI":"10.1016\/j.numecd.2024.02.006"},{"key":"2026100816572543817_j_jpem-2026-0123_ref_011","doi-asserted-by":"crossref","unstructured":"Kose, E, Armagan, C, Teke K\u0131sa, P, Onay, H, Arslan, N. Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation. J\u00a0Pediatr Endocrinol Metab 2018;31:1289\u201393. https:\/\/doi.org\/10.1515\/jpem-2018-0280.","DOI":"10.1515\/jpem-2018-0280"},{"key":"2026100816572543817_j_jpem-2026-0123_ref_012","doi-asserted-by":"crossref","unstructured":"Javed, F, Hegele, RA, Garg, A, Patni, N, Gaudet, D, Williams, L, et al.. Familial chylomicronemia syndrome: an expert clinical review from the national lipid association. J\u00a0Clin Lipidol 2025;19:382\u2013403. https:\/\/doi.org\/10.1016\/j.jacl.2025.03.013.","DOI":"10.1016\/j.jacl.2025.03.013"},{"key":"2026100816572543817_j_jpem-2026-0123_ref_013","doi-asserted-by":"crossref","unstructured":"Witztum, JL, Gaudet, D, Freedman, SD, Alexander, VJ, Digenio, A, Williams, KR, et al.. Volanesorsen and triglyceride levels in familial chylomicronemia syndrome. N\u00a0Engl J Med 2019;381:531\u201342. https:\/\/doi.org\/10.1056\/NEJMoa1715944.","DOI":"10.1056\/NEJMoa1715944"},{"key":"2026100816572543817_j_jpem-2026-0123_ref_014","doi-asserted-by":"crossref","unstructured":"Buitendag, J, Theron, ER, Variawa, S, Oosthuizen, GV. Using fresh frozen plasma as an emergency treatment modality for hypertriglyceridaemic acute pancreatitis in a resource-constrained environment: a case report and review of literature. 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