{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:40:05Z","timestamp":1756374005617,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,28]]},"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>Familial hypercholesterolaemia is a genetic disorder secondary to mutation of one or more of the genes critical for low-density lipoprotein cholesterol (LDL-C) metabolism; these mutation(s) cause highly elevated serum LDL-C, significantly increasing the risk of early cardiovascular events and mortality. Homozygous familial hypercholesterolaemia (HoFH) is rare and often leads to accelerated coronary atherosclerosis presenting within the first two decades of life. We report a case of a 14-year-old boy who presented after surviving a ventricular fibrillation cardiac arrest. His highly elevated LDL-C level prompted further workup and led to a diagnosis of HoFH. The treatment included medical therapy and coronary artery bypass grafting. The patient also required referral for lipid apheresis to meet goal LDL-C level, and an automated implantable cardioverter defibrillator for secondary prevention of sudden cardiac death. HoFH, if left untreated, can have devastating consequences Therefore, timely diagnosis initiating appropriate therapy is important.<\/jats:p>","DOI":"10.1136\/bcr-2021-242114","type":"journal-article","created":{"date-parts":[[2021,5,19]],"date-time":"2021-05-19T13:48:18Z","timestamp":1621432098000},"page":"e242114","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Case of homozygous familial hypercholesterolaemia with premature coronary artery disease"],"prefix":"10.1136","volume":"14","author":[{"given":"Gayatri","family":"Suresh Kumar","sequence":"first","affiliation":[{"name":"Internal Medicine, University of Louisville, Louisville, Kentucky, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad F","family":"Mathbout","sequence":"additional","affiliation":[{"name":"Cardiovascular Medicine, University of Louisville, Louisville, Kentucky, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibrahim","family":"Fahsah","sequence":"additional","affiliation":[{"name":"Cardiology, Norton Healthcare, Louisville, Kentucky, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahab","family":"Ghafghazi","sequence":"additional","affiliation":[{"name":"Cardiovascular Medicine, University of Louisville, Louisville, Kentucky, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,5,19]]},"reference":[{"key":"2025082802213260000_14.5.e242114.1","doi-asserted-by":"crossref","first-page":"751","DOI":"10.5551\/jat.CR003","article-title":"Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017","volume":"25","author":"Harada-Shiba","year":"2018","journal-title":"J Atheroscler Thromb"},{"key":"2025082802213260000_14.5.e242114.2","first-page":"169","article-title":"Familial hypercholesterolemia","volume":"33","author":"Bouhairie","year":"2015","journal-title":"Cardiol Clin"},{"key":"2025082802213260000_14.5.e242114.3","first-page":"32","article-title":"Familial hypercholesterolemia: review of diagnosis, screening, and treatment","volume":"62","author":"Turgeon","year":"2016","journal-title":"Can Fam Physician"},{"key":"2025082802213260000_14.5.e242114.4","first-page":"272","article-title":"2017 AHA\/ACC\/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"138","author":"Al-Khatib","year":"2018","journal-title":"Circulation"},{"key":"2025082802213260000_14.5.e242114.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2017.06.057"},{"key":"2025082802213260000_14.5.e242114.6","doi-asserted-by":"crossref","first-page":"208","DOI":"10.4274\/balkanmedj.2017.0490","article-title":"Premature coronary artery disease due to homozygous familial hypercholesterolemia in a 12-year-old girl","volume":"35","author":"Ekici","year":"2018","journal-title":"Balkan Med J"},{"key":"2025082802213260000_14.5.e242114.7","doi-asserted-by":"crossref","first-page":"539","DOI":"10.5551\/jat.CR002","article-title":"Guidance for pediatric familial hypercholesterolemia 2017","volume":"25","author":"Harada-Shiba","year":"2018","journal-title":"J Atheroscler Thromb"},{"key":"2025082802213260000_14.5.e242114.8","doi-asserted-by":"crossref","first-page":"121","DOI":"10.5551\/jat.RV17029","article-title":"Liver transplantation for homozygous familial hypercholesterolemia","volume":"26","author":"Ishigaki","year":"2019","journal-title":"J Atheroscler Thromb"},{"key":"2025082802213260000_14.5.e242114.9","doi-asserted-by":"publisher","DOI":"10.3949\/ccjm.87a.19021"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-242114","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:21:39Z","timestamp":1756372899000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-242114"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,5,19]]},"published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1136\/bcr-2021-242114"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-242114","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,5]]}}}