{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:54Z","timestamp":1784557074507,"version":"3.55.0"},"reference-count":13,"publisher":"Bioscientifica","issue":"3","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,7,1]]},"abstract":"\n Summary<\/jats:title>\n \n Low high-density lipoprotein cholesterol (HDL-C) is a risk factor for cardiovascular disease. Very low HDL-C levels (less than 20 mg\/dL), however, were uncommonly seen and can be due to genetic defects involving the metabolic pathway of high-density lipoprotein (HDL). We encountered a 50-year-old Chinese man who was only noticed to have extremely low HDL-C levels after surviving recurrent episodes of myocardial infarction. Further workup revealed the undetectable level of apolipoprotein A-I, the absence of HDL on gel electrophoresis, and a novel heterozygous splicing variant in the\n ABCA1<\/jats:italic>\n gene, which was predicted to be pathogenic by\n in silico<\/jats:italic>\n analysis. To the best of our knowledge, this is the first reported Hong Kong Chinese with ABCA1 deficiency and probable Tangier disease. The association of ABCA1 deficiency\/Tangier disease and accelerated atherosclerosis is discussed.\n <\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n Clinicians should be aware of the differential diagnoses of very low HDL-C, which could be divided into genetic and acquired causes.<\/jats:p>\n <\/jats:list-item>\n \n Genetic low HDL syndromes include apoA-I deficiency, Tangier disease, and familial LCAT deficiency, each of which has characteristic clinical features and can be differentiated from the other further by apoA-I measurement, lipoprotein analysis, and genetic testing.<\/jats:p>\n <\/jats:list-item>\n \n Patients with ABCA1 deficiency and Tangier disease are at risk of premature coronary artery disease and should be aggressively screened and treated for cardiovascular risk factors and established cardiovascular diseases.<\/jats:p>\n <\/jats:list-item>\n \n Revascularization strategy and indications for coronary artery bypass grafting in patients with Tangier disease and coronary artery disease follow that as for patients without Tangier disease.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-23-0102","type":"journal-article","created":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T09:00:11Z","timestamp":1722589211000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["A novel splicing variant in ABCA1 in the first reported Hong Kong Chinese patient with high-density lipoprotein deficiency"],"prefix":"10.1530","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5570-5815","authenticated-orcid":true,"given":"Cheuk Lik","family":"Wong","sequence":"first","affiliation":[{"name":"Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling Yin","family":"Hung","sequence":"additional","affiliation":[{"name":"Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wai Kwan Carol","family":"Siu","sequence":"additional","affiliation":[{"name":"Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicki Ho Kee","family":"Tam","sequence":"additional","affiliation":[{"name":"Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe Miu","family":"Mak","sequence":"additional","affiliation":[{"name":"Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"European Heart Journal","first-page":"111","article-title":"ESC\/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk","volume":"41","author":"Mach","year":"2020","unstructured":"Mach FBaigent CCatapano ALKoskinas KCCasula MBadimon LChapman MJDe Backer GGDelgado VFerence BA, et al.ESC\/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. European Heart Journal. 202041111\u2013188. (https:\/\/doi.org\/10.1093\/eurheartj\/ehz455). Erratum in: European Heart Journal2020414255. (https:\/\/doi.org\/10.1093\/eurheartj\/ehz826)"},{"key":"bib2","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"3399","article-title":"Approach to the patient with extremely low HDL-cholesterol","volume":"97","author":"Rader","year":"2012","unstructured":"Rader DJ & deGoma EM. Approach to the patient with extremely low HDL-cholesterol. Journal of Clinical Endocrinology and Metabolism2012973399\u20133407. (https:\/\/doi.org\/10.1210\/jc.2012-2185)"},{"key":"bib3","series-title":"PLoS One","first-page":"e94585","article-title":"Effect of HDL-raising drugs on cardiovascular outcomes: a systematic review and meta-regression","volume":"9","author":"Kaur","year":"2014","unstructured":"Kaur NPandey ANegi HShafiq NReddy SKaur HChadha N & Malhotra S. Effect of HDL-raising drugs on cardiovascular outcomes: a systematic review and meta-regression. PLoS One20149e94585. (https:\/\/doi.org\/10.1371\/journal.pone.0094585)"},{"key":"bib4","series-title":"Cardiology","first-page":"236","article-title":"Cholesteryl ester transfer protein inhibitors and cardiovascular outcomes: a systematic review and meta-analysis of randomized controlled trials","volume":"145","author":"Taheri","year":"2020","unstructured":"Taheri HFilion KBWindle SBReynier P & Eisenberg MJ. Cholesteryl ester transfer protein inhibitors and cardiovascular outcomes: a systematic review and meta-analysis of randomized controlled trials. Cardiology2020145236\u2013250. (https:\/\/doi.org\/10.1159\/000505365)"},{"key":"bib5","series-title":"Journal of Clinical Lipidology","first-page":"41","article-title":"Severe acquired (secondary) high-density lipoprotein deficiency","volume":"1","author":"Goldberg","year":"2007","unstructured":"Goldberg RB & Mendez AJ. Severe acquired (secondary) high-density lipoprotein deficiency. Journal of Clinical Lipidology2007141\u201356. (https:\/\/doi.org\/10.1016\/j.jacl.2007.02.003)"},{"key":"bib6","series-title":"Progress in Cardiovascular Diseases","first-page":"97","article-title":"Diagnosis and treatment of high density lipoprotein deficiency","volume":"59","author":"Schaefer","year":"2016","unstructured":"Schaefer EJAnthanont PDiffenderfer MRPolisecki E & Asztalos BF. Diagnosis and treatment of high density lipoprotein deficiency. Progress in Cardiovascular Diseases20165997\u2013106. (https:\/\/doi.org\/10.1016\/j.pcad.2016.08.006)"},{"key":"bib7","series-title":"Journal of Atherosclerosis and Thrombosis","first-page":"802","article-title":"Current diagnosis and management of Tangier disease","volume":"28","author":"Koseki","year":"2021","unstructured":"Koseki MYamashita SOgura MIshigaki YOno KTsukamoto KHori MMatsuki KYokoyama S & Harada-Shiba M. Current diagnosis and management of Tangier disease. Journal of Atherosclerosis and Thrombosis202128802\u2013810. (https:\/\/doi.org\/10.5551\/jat.RV17053)"},{"key":"bib8","series-title":"Atherosclerosis","first-page":"85","article-title":"Homozygous Tangier disease and cardiovascular disease","volume":"107","author":"Serfaty-Lacrosniere","year":"1994","unstructured":"Serfaty-Lacrosniere CCiveira FLanzberg AIsaia PBerg JJanus EDSmith MPJrPritchard PHFrohlich J & Lees RS. Homozygous Tangier disease and cardiovascular disease. Atherosclerosis199410785\u201398. (https:\/\/doi.org\/10.1016\/0021-9150(9490144-9)"},{"key":"bib9","series-title":"Journal of Atherosclerosis and Thrombosis","first-page":"1076","article-title":"Accelerated atherogenicity in Tangier disease","volume":"25","author":"Muratsu","year":"2018","unstructured":"Muratsu JKoseki MMasuda DYasuga YTomoyama SAtaka KYagi YNakagawa AHamada HFujita S, et al.Accelerated atherogenicity in Tangier disease. Journal of Atherosclerosis and Thrombosis2018251076\u20131085. (https:\/\/doi.org\/10.5551\/jat.43257)"},{"key":"bib10","series-title":"Japanese Journal of Thoracic and Cardiovascular Surgery","first-page":"383","article-title":"Coronary artery bypass grafting for a patient with Tangier disease","volume":"50","author":"Takami","year":"2002","unstructured":"Takami HKobayashi TNakagawa TSakurai MAwata N & Yamashita S. Coronary artery bypass grafting for a patient with Tangier disease. Japanese Journal of Thoracic and Cardiovascular Surgery200250383\u2013386. (https:\/\/doi.org\/10.1007\/BF02913190)"},{"key":"bib11","series-title":"JACC. Case Reports","first-page":"101904","article-title":"ABCA1 deficiency: A rare cause of premature coronary artery disease","volume":"18","author":"Malick","year":"2023","unstructured":"Malick WASchaefer EJHegele RA & Rosenson RS. ABCA1 deficiency: A rare cause of premature coronary artery disease. JACC. Case Reports202318101904. (https:\/\/doi.org\/10.1016\/j.jaccas.2023.101904)"},{"key":"bib12","series-title":"Journal of Atherosclerosis and Thrombosis","first-page":"292","article-title":"Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations","volume":"16","author":"Koseki","year":"2009","unstructured":"Koseki MMatsuyama ANakatani KInagaki MNakaoka HKawase RYuasa-Kawase MTsubakio-Yamamoto KMasuda DSandoval JC, et al.Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. Journal of Atherosclerosis and Thrombosis200916292\u2013296. (https:\/\/doi.org\/10.5551\/jat.e599)"},{"key":"bib13","series-title":"Molecular Genetics and Metabolism","first-page":"534","article-title":"Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency","volume":"107","author":"Fasano","year":"2012","unstructured":"Fasano TZanoni PRabacchi CPisciotta LFavari EAdorni MPDeegan PBPark AHlaing TFeher MD, et al.Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. Molecular Genetics and Metabolism2012107534\u2013541. (https:\/\/doi.org\/10.1016\/j.ymgme.2012.08.005)"}],"container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2024\/3\/EDM-23-0102.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2024\/3\/EDM-23-0102.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2024\/3\/EDM-23-0102.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:48:18Z","timestamp":1784555298000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3803"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,1]]},"references-count":13,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1530\/edm-23-0102","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,1]]}}}