{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T18:18:14Z","timestamp":1783448294826,"version":"3.55.0"},"reference-count":12,"publisher":"Bioscientifica","issue":"1","license":[{"start":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T00:00:00Z","timestamp":1781481600000},"content-version":"vor","delay-in-days":165,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>We report the case of a 47-year-old woman with severe hypertriglyceridemia due to a homozygous APOA5 c.553G&amp;gt;T (p.Gly185Cys) mutation. She presented with markedly elevated triglyceride levels (TG, 1,047 mg\/dL) that were unresponsive to lifestyle modifications. Lipoprotein fractionation revealed increased chylomicrons (CMs, 21%) and very-low-density lipoprotein (35%), consistent with type V hyperlipoproteinemia. Secondary causes, such as diabetes, alcohol intake, and hypothyroidism, were excluded. The post-heparinization lipoprotein lipase (PH-LPL) level was reduced (104 ng\/mL), indicating impaired lipolysis. Genetic testing revealed no pathogenic variants in LPL or other major genes related to triglyceride metabolism. A homozygous APOA5 c.553G&amp;gt;T variant was identified. Pemafibrate (0.2 mg\/day), a selective PPAR\u03b1 modulator (SPPARM\u03b1), was initiated. After 2 months, the blood lipid levels had markedly improved, with the complete disappearance of CMs, and the PH-LPL level had normalized to 173 ng\/mL. This case highlights the potential pathogenic role of APOA5 mutations in LPL-related hypertriglyceridemia. Furthermore, it demonstrates the multifaceted therapeutic effects of pemafibrate, suggesting a potential role for SPPARM\u03b1 therapy in the management of hereditary hypertriglyceridemia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1530\/edm-25-0084","type":"journal-article","created":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T11:28:49Z","timestamp":1770204529000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["Reversibly reduced lipoprotein lipase in\n                    <i>APOA5<\/i>\n                    c.553G&amp;gt;T-related hypertriglyceridemia successfully treated with pemafibrate"],"prefix":"10.1530","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3510-8156","authenticated-orcid":true,"given":"Shozo","family":"Miyauchi","sequence":"first","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Utsunomiya","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Okamoto","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuyuki","family":"Akesaka","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keizo","family":"Ono","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiko","family":"Hara","sequence":"additional","affiliation":[{"name":"2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masumi","family":"Miyazaki","sequence":"additional","affiliation":[{"name":"3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironobu","family":"Nakaguchi","sequence":"additional","affiliation":[{"name":"4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teruki","family":"Miyake","sequence":"additional","affiliation":[{"name":"3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinya","family":"Furukawa","sequence":"additional","affiliation":[{"name":"5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Ebisui","sequence":"additional","affiliation":[{"name":"1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Hiasa","sequence":"additional","affiliation":[{"name":"3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bunzo","family":"Matsuura","sequence":"additional","affiliation":[{"name":"4"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2026,2,4]]},"reference":[{"key":"2026070713560894700_bib1","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1093\/eurheartj\/ehz785","article-title":"Clinical review on triglycerides","volume":"41","author":"Laufs","year":"2020","journal-title":"Eur Heart J"},{"key":"2026070713560894700_bib2","doi-asserted-by":"crossref","first-page":"981","DOI":"10.3390\/nu5030981","article-title":"Hypertriglyceridemia","volume":"5","author":"Brahm","year":"2013","journal-title":"Nutrients"},{"key":"2026070713560894700_bib3","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.atherosclerosis.2011.07.019","article-title":"Apolipoprotein A-V; 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