{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T07:03:15Z","timestamp":1774940595008,"version":"3.50.1"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"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. Pediatr."],"abstract":"<jats:p>\n                    Familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by markedly elevated plasma low-density lipoprotein cholesterol (LDL-C) levels, formation of xanthomas, and early-onset atherosclerotic cardiovascular disease (ASCVD). This report describes a rare pediatric case of compound heterozygous FH (cHeFH), in which two mutations were identified in the low-density lipoprotein receptor (\n                    <jats:italic>LDLR<\/jats:italic>\n                    ) gene through whole-exome sequencing (WES), including c.682G\u2009&amp;gt;\u2009A and the rarely reported c.1187\u201310G\u2009&amp;gt;\u2009A variant. This case provides key insights into the association between these mutations, the clinical phenotype, and treatment response.\n                  <\/jats:p>","DOI":"10.3389\/fped.2026.1752339","type":"journal-article","created":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T05:32:21Z","timestamp":1774935141000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Compound heterozygous familial hypercholesterolemia in a pediatric patient with multiple cutaneous xanthomas"],"prefix":"10.3389","volume":"14","author":[{"given":"Qian","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tianjin Medical University General Hospital","place":["Tianjin, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihong","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tianjin Medical University General Hospital","place":["Tianjin, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyi","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tianjin Medical University General Hospital","place":["Tianjin, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyang","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tianjin Medical University General Hospital","place":["Tianjin, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tianjin Medical University General Hospital","place":["Tianjin, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geli","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tianjin Medical University General Hospital","place":["Tianjin, 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