{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T13:10:10Z","timestamp":1745759410644,"version":"3.40.4"},"reference-count":20,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,7,2]]},"abstract":"<jats:p>Familial hypercholesterolaemia (FH) is a genetic condition that results in elevated low-density lipoprotein (LDL) cholesterol (LDL-C) levels with consequent increased risk for premature cardiovascular disease events. Although it is considered an autosomal-dominant genetic condition, the underlying genetic causes of FH can be complex. Currently most guidelines rely on clinical criteria to diagnose FH. But this approach has some pitfalls. We present a patient who was not formally diagnosed with FH using commonly used and well-accepted clinical criteria but via genetic testing was found to have a mutation for this disorder. This case brings to fore the challenges clinicians face in diagnosing and managing such unusual cases optimally. Through this case report, we hope to stimulate a debate among clinicians as well as other stakeholders regarding the need to develop more efficient ways of selecting patients for genetic testing in response to elevated LDL levels.<\/jats:p>","DOI":"10.1136\/bcr-2018-225259","type":"journal-article","created":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T07:05:47Z","timestamp":1532070347000},"page":"bcr-2018-225259","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic testing for a patient with suspected familial hypercholesterolaemia"],"prefix":"10.1136","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8400-8186","authenticated-orcid":false,"given":"Venugopal","family":"Mudgundi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geoffrey","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Manou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Block","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,7,19]]},"reference":[{"key":"2025042705370861000_2018.jul19_1.bcr-2018-225259.1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.022335"},{"key":"2025042705370861000_2018.jul19_1.bcr-2018-225259.2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/eht273"},{"key":"2025042705370861000_2018.jul19_1.bcr-2018-225259.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2016.03.520"},{"key":"2025042705370861000_2018.jul19_1.bcr-2018-225259.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9150(02)00330-1"},{"key":"2025042705370861000_2018.jul19_1.bcr-2018-225259.5","doi-asserted-by":"crossref","unstructured":"Mundal LJ , Igland J , Veier\u00f8d MB , et al . 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