{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T12:16:50Z","timestamp":1770725810730,"version":"3.49.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T00:00:00Z","timestamp":1770595200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Nutr."],"abstract":"<jats:p>Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by severe hypertriglyceridemia and caused by mutations in genes involved in chylomicron metabolism. Dietary management includes a very-low-fat diet, restriction of simple carbohydrates and alcohol, supplementation with medium-chain triglycerides, essential fatty acids, and fat-soluble vitamins; however, long-term adherence is often poor and nutritional therapy alone is insufficient. We report two adult Chilean sisters with FCS caused by the homozygous Q97X mutation in the APOA5 gene. Both patients experienced severe hypertriglyceridemia (&amp;gt;5,000\u202fmg\/dL) and recurrent episodes of acute pancreatitis. One sister was treated with volanesorsen, an antisense oligonucleotide, receiving a weekly dose of 285\u202fmg, which was repeated every 3\u202fweeks due to thrombocytopenia. When combined with structured nutritional counseling, pharmacological treatment achieved a marked reduction in plasma triglycerides to &amp;lt;250\u202fmg\/dL and a substantial improvement in quality of life. The other sister was managed with conventional therapy due to a lack of health insurance coverage for volanesorsen. She presented persistent hypertriglyceridemia and recurrent hospitalizations, underscoring the challenges of access to advanced therapies in limited-resource settings. While volanesorsen offers a promising therapeutic alternative, equitable access remains a critical issue, particularly in health systems of low-to middle-income regions.<\/jats:p>","DOI":"10.3389\/fnut.2026.1749264","type":"journal-article","created":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T16:05:08Z","timestamp":1770653108000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Conventional therapy versus volanesorsen in two sisters with familial chylomicronemia syndrome"],"prefix":"10.3389","volume":"13","author":[{"given":"Javier","family":"Vega","sequence":"first","affiliation":[{"name":"Department of Nutrition, Diabetes and Metabolism. School of Medicine, Pontificia Universidad Cat\u00f3lica de Chile","place":["Santiago, Chile"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjam\u00edn","family":"Torres","sequence":"additional","affiliation":[{"name":"Department of Nutrition, Diabetes and Metabolism. School of Medicine, Pontificia Universidad Cat\u00f3lica de Chile","place":["Santiago, Chile"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Maiz","sequence":"additional","affiliation":[{"name":"Department of Nutrition, Diabetes and Metabolism. School of Medicine, Pontificia Universidad Cat\u00f3lica de Chile","place":["Santiago, Chile"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 L.","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Health Sciences and Institute for Sustainability and Food Chain Innovation (IS-FOOD), Universidad Publica de Navarra","place":["Pamplona, Spain"]},{"name":"School of Medicine, Pontificia Universidad Cat\u00f3lica de Chile","place":["Santiago, Chile"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/j.tcm.2019.03.001","article-title":"Familial chylomicronemia syndrome: a rare but devastating autosomal recessive disorder characterized by refractory hypertriglyceridemia and recurrent pancreatitis","volume":"30","author":"Chyzhyk","year":"2020","journal-title":"Trends Cardiovasc Med"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1234","DOI":"10.1016\/j.jacl.2018.05.013","article-title":"Characterizing familial chylomicronemia syndrome: baseline data of the APPROACH study","volume":"12","author":"Blom","year":"2018","journal-title":"J Clin Lipidol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1016\/j.jacl.2016.02.019","article-title":"Severe hypertriglyceridemia and factors associated with acute pancreatitis in an integrated health care system","volume":"10","author":"Rashid","year":"2016","journal-title":"J Clin Lipidol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1007\/s11883-020-00885-1","article-title":"Familial Chylomicronemia syndrome (FCS): recent data on diagnosis and treatment","volume":"22","author":"Gallo","year":"2020","journal-title":"Curr Atheroscler Rep"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1186\/s13023-023-02927-8","article-title":"Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience","volume":"18","author":"Williams","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1111\/j.1365-2796.2012.02516.x","article-title":"Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia","volume":"272","author":"Surendran","year":"2012","journal-title":"J Intern Med"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"920","DOI":"10.1016\/j.jacl.2018.03.093","article-title":"Clinical and biochemical features of different molecular etiologies of familial chylomicronemia","volume":"12","author":"Hegele","year":"2018","journal-title":"J Clin Lipidol"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1111\/joim.13016","article-title":"Familial chylomicronemia syndrome: an under-recognized cause of severe hypertriglyceridaemia","volume":"287","author":"Baass","year":"2020","journal-title":"J Intern Med"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1016\/j.jacl.2018.04.010","article-title":"Patients and families living with FCS. 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