{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T06:42:57Z","timestamp":1777444977987,"version":"3.51.4"},"reference-count":13,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,10,10]],"date-time":"2024-10-10T00:00:00Z","timestamp":1728518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Manchester University Foundation Trust"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Biochem"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:p>\n                    Combined or mixed hyperlipidaemia is characterised by\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/en.wikipedia.org\/wiki\/Hypercholesterolemia\">hypercholesterolaemia<\/jats:ext-link>\n                    together with high\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/en.wikipedia.org\/wiki\/Triglyceride\">triglyceride<\/jats:ext-link>\n                    concentrations. It is found in approximately 1 in 100 people in the United Kingdom. Most cases are secondary to an underlying condition such as the metabolic syndrome, diabetes mellitus (especially poorly controlled) or individuals with a high alcohol intake. Mixed hyperlipidaemia is also a feature of some primary hyperlipidaemia conditions such familial combined hyperlipidaemia (FCH) or type III hyperlipidaemia (dysbetalipoproteinaemia). One differential diagnosis for mixed hyperlipidaemia that can easily be overlooked is a patient with an underlying diagnosis of familial hypercholesterolaemia (FH) who also has a hypertriglyceridaemia due to any other cause. Those patients may have very high total and low-density lipoprotein cholesterol concentrations (LDL-C) with a moderately elevated triglyceride concentration. In this article, we report 4 cases of familial hypercholesterolaemia, confirmed by genetic testing, in patients initially presenting with hypertriglyceridaemia in addition to high total cholesterol and LDL-C. This article discusses the diagnostic challenges associated with this presentation and highlights the key role of directly measuring LDL-C to aid diagnosis in these specific situations.\n                  <\/jats:p>","DOI":"10.1177\/00045632241289275","type":"journal-article","created":{"date-parts":[[2024,10,10]],"date-time":"2024-10-10T18:49:22Z","timestamp":1728586162000},"page":"143-147","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial hypercholesterolaemia with high triglycerides: A diagnostic challenge"],"prefix":"10.1177","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-3374-2515","authenticated-orcid":false,"given":"Suha","family":"Ahmed","sequence":"first","affiliation":[{"name":"Manchester University Foundation Trust, Manchester, UK"},{"name":"Department of Chemical Pathology, Royal Liverpool University Hospital, Liverpool, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marwa","family":"Elgizouli","sequence":"additional","affiliation":[{"name":"Manchester University Foundation Trust, Manchester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric S","family":"Kilpatrick","sequence":"additional","affiliation":[{"name":"Manchester University Foundation Trust, Manchester, UK"},{"name":"Weill Cornell Medicine Qatar and Sidra Medicine, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4325-732X","authenticated-orcid":false,"given":"Timothy J","family":"Morris","sequence":"additional","affiliation":[{"name":"Manchester University Foundation Trust, Manchester, UK"},{"name":"Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,10,10]]},"reference":[{"key":"e_1_3_3_2_2","unstructured":"Heart UK. Familial combined hyperlipidaemia (FCH). https:\/\/www.heartuk.org.uk\/genetic-conditions\/familial-combined-hyperlipidaemia-fch (accessed 05 September 2024)."},{"key":"e_1_3_3_3_2","unstructured":"National Institute for Health and Care Excellence. Cardiovascular disease: risk assessment and reduction including lipid modification. Clinical guideline [CG181]. https:\/\/www.nice.org.uk\/guidance\/ng238 (2023 accessed 05 September 2024)."},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/18.6.499"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2013.280532"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamacardio.2020.0013"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2021.28817"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu274"},{"key":"e_1_3_3_9_2","unstructured":"NHS. Alcohol units. https:\/\/www.nhs.uk\/conditions\/alcohol-misuse\/ (accessed 05 September 2024)."},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2016.6176"},{"key":"e_1_3_3_11_2","first-page":"403","volume-title":"Tietz fundamentals of clinical chemistry and molecular diagnostics","author":"Burtis CA","year":"2015","unstructured":"Burtis CA, Bruns DE. Tietz fundamentals of clinical chemistry and molecular diagnostics. 7th ed. Missouri: Elsevier Saunders, 2015, pp. 403\u2013404.","edition":"7"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.060963"},{"key":"e_1_3_3_13_2","unstructured":"National Institute for Health and Care Excellence. Familial hypercholesterolaemia: identification and management (Technology appraisal guidance [TA394]. https:\/\/www.nice.org.uk\/guidance\/ta394 (2014 accessed 05 September 2024)."},{"key":"e_1_3_3_14_2","unstructured":"Birmingham NEQAS. Clinical chemistry: lipid investigation."}],"container-title":["Annals of Clinical Biochemistry: International Journal of Laboratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/00045632241289275","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/00045632241289275","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/00045632241289275","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T12:25:31Z","timestamp":1777379131000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/00045632241289275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,10]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1177\/00045632241289275"],"URL":"https:\/\/doi.org\/10.1177\/00045632241289275","relation":{},"ISSN":["0004-5632","1758-1001"],"issn-type":[{"value":"0004-5632","type":"print"},{"value":"1758-1001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,10]]}}}