{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T21:30:24Z","timestamp":1773783024412,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"vor","delay-in-days":273,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal dominant disorder characterized by severely elevated low\u2010density lipoprotein cholesterol (LDL\u2010C), leading to premature cardiovascular disease. Early diagnosis is critical but often delayed due to limited access to genetic testing, particularly in regions with high consanguinity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>A 23\u2010year\u2010old Persian woman, born to consanguineous parents, presented with tendon and cutaneous xanthomas, bilateral corneal arcus, and hand deformities resembling rheumatoid arthritis. Her medical history included childhood hypercholesterolemia, and her family history revealed premature myocardial infarction in her mother. Laboratory results showed markedly elevated LDL\u2010C (509\u2009mg\/dL). Diagnosis was confirmed clinically using Dutch Lipid Clinic Network and Simon Broome criteria, as genetic testing was unavailable.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interventions and Outcomes<\/jats:title>\n                    <jats:p>Initial therapy with rosuvastatin (40\u2009mg) and ezetimibe (10\u2009mg) failed to achieve LDL\u2010C targets. Evolocumab (420\u2009mg monthly) was added, resulting in an 82% reduction in LDL\u2010C (from 509 to 89\u2009mg\/dL) and partial regression of xanthomas.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case highlights the diagnostic challenges of HoFH in resource\u2010limited settings and underscores the importance of clinical criteria when genetic testing is inaccessible. Aggressive lipid\u2010lowering therapy, including PCSK9 inhibitors, is essential for managing HoFH and mitigating cardiovascular risk. Early recognition of physical signs (e.g., xanthomas and corneal arcus) and family screening are crucial for timely intervention.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/carm\/2255274","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T11:09:38Z","timestamp":1759316978000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Corneal Arcus, Xanthomas, and Finger Deformities in a Young Woman With Homozygous Familial Hypercholesterolemia"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5133-2481","authenticated-orcid":false,"given":"Babak","family":"Bagheri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-5577-0270","authenticated-orcid":false,"given":"Fatemeh","family":"Shokri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0854-8965","authenticated-orcid":false,"given":"Amir Hasan","family":"Farzaneh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,1]]},"reference":[{"key":"e_1_2_14_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2020.03.057"},{"key":"e_1_2_14_2_2","doi-asserted-by":"publisher","DOI":"10.5551\/jat.cr006"},{"key":"e_1_2_14_3_2","volume-title":"Diagnosis of Familial Hypercholesterolemia","author":"Jialal I.","year":"2016"},{"key":"e_1_2_14_4_2","doi-asserted-by":"publisher","DOI":"10.1161\/cir.0000000000000297"},{"key":"e_1_2_14_5_2","doi-asserted-by":"publisher","DOI":"10.2174\/1381612824666181010145807"},{"key":"e_1_2_14_6_2","doi-asserted-by":"publisher","DOI":"10.5551\/jat.rv17050"},{"key":"e_1_2_14_7_2","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/154908"},{"key":"e_1_2_14_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/jaha.119.013225"},{"key":"e_1_2_14_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu274"},{"key":"e_1_2_14_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.09.022"},{"key":"e_1_2_14_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.atherosclerosis.2009.04.009"},{"key":"e_1_2_14_12_2","first-page":"I108","article-title":"The Association of Dyslipoproteinemia With Corneal Arcus and Xanthelasma. The Lipid Research Clinics Program Prevalence Study","volume":"73","author":"Segal P.","year":"1986","journal-title":"Circulation"},{"key":"e_1_2_14_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2008.08.030"},{"key":"e_1_2_14_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehad197"},{"key":"e_1_2_14_15_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11226773"},{"key":"e_1_2_14_16_2","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines10123273"}],"container-title":["Case Reports in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/carm\/2255274","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/carm\/2255274","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/carm\/2255274","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T17:56:32Z","timestamp":1773770192000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/carm\/2255274"}},"subtitle":[],"editor":[{"given":"Thomas R.","family":"Chauncey","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/carm\/2255274"],"URL":"https:\/\/doi.org\/10.1155\/carm\/2255274","archive":["Portico"],"relation":{},"ISSN":["1687-9627","1687-9635"],"issn-type":[{"value":"1687-9627","type":"print"},{"value":"1687-9635","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2025-06-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"2255274"}}