{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T18:35:03Z","timestamp":1789842903573,"version":"4.0.1"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0335_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of\u00a0asymptomatic cases by reporting our patients\u2019 clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0335_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This retrospective and cross-sectional study investigated seven patients from three different families diagnosed with TD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0335_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Four of seven patients were girls. Median age was 5.7 years at symptom onset and 6.5 years at diagnosis. The index case presented with neuropathy findings, and TD was diagnosed based on genetic analysis. Low lipid levels were determined in a sibling and cousins with cardiac death and gait disturbance in the family. TD was confirmed by genetic investigation. Our other patients were evaluated due to anemia, thrombocytopenia, yellow-orange hypertrophy in the tonsils, and organomegaly. Diagnosis was established with genetic analysis and low HDL. No coronary artery disease or ocular involvement was observed in any case.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0335_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>All patients presenting with neuropathy and gait disorders should undergo detailed tonsil examinations and HDL tests. Genetic analysis should be carried out if necessary. Family screening should be recommended to patients with consanguineous marriages after diagnosis of TD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0335","type":"journal-article","created":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T12:20:56Z","timestamp":1737030056000},"page":"271-278","source":"Crossref","is-referenced-by-count":2,"title":["The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3517-2983","authenticated-orcid":false,"given":"Selcan","family":"\u00d6zt\u00fcrk","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics and Child Health , Erciyes University, Faculty of Medicine , Kayseri , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammet Ensar","family":"Do\u011fan","sequence":"additional","affiliation":[{"name":"Clinic of Medical Genetics , Kayseri City Training and Research Hospital , Kayseri , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5521-7659","authenticated-orcid":false,"given":"Banu","family":"Kad\u0131o\u011flu Y\u0131lmaz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism and Nutrition, Department of Pediatrics and Child Health , Selcuk University, Faculty of Medicine , Konya , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayten","family":"G\u00fcle\u00e7","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics and Child Health , Erciyes University, Faculty of Medicine , Kayseri , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pembe","family":"Soylu \u00dcstkoyuncu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism and Nutrition, Department of Pediatrics and Child Health , Kayseri City Training and Research Hospital , Kayseri , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Karda\u015f","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism and Nutrition, Department of Pediatrics and Child Health , Erciyes University, Faculty of Medicine , Kayseri , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakan","family":"G\u00fcm\u00fc\u015f","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics and Child Health , Erciyes University, Faculty of Medicine , Kayseri , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9904-6479","authenticated-orcid":false,"given":"H\u00fcseyin","family":"Per","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics and Child Health , Erciyes University, Faculty of Medicine , Kayseri , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,1,16]]},"reference":[{"key":"2025030110294545356_j_jpem-2024-0335_ref_001","doi-asserted-by":"crossref","unstructured":"Koseki, M, Yamashita, S, Ogura, M, Ishigaki, Y, Ono, K, Tsukamoto, K, et al.. Current diagnosis and management of Tangier disease. J Atherosclerosis Thromb 2021;28:802\u201310. https:\/\/doi.org\/10.5551\/jat.RV17053.","DOI":"10.5551\/jat.RV17053"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_002","doi-asserted-by":"crossref","unstructured":"Zyss, J, B\u00e9hin, A, Couvert, P, Bouhour, F, Sassolas, A, Kolev, I, et al.. Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. J Neurol 2012;259:1222\u20136. https:\/\/doi.org\/10.1007\/s00415-011-6340-2.","DOI":"10.1007\/s00415-011-6340-2"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_003","doi-asserted-by":"crossref","unstructured":"Jacobo-Albavera, L, Dom\u00ednguez-P\u00e9rez, M, Medina-Leyte, DJ, Gonz\u00e1lez-Garrido, A, Villarreal-Molina, T. The role of the ATP-binding cassette A1 (ABCA1) in human disease. Int J Mol Sci 2021;22:1593. https:\/\/doi.org\/10.3390\/ijms22041593.","DOI":"10.3390\/ijms22041593"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_004","doi-asserted-by":"crossref","unstructured":"Karabudak, S, G\u00fczel, V, G\u00fcler, B, Uyan\u0131k, B, G\u00fcrsoy, AE. A case report of Tangier disease presents with acute sensorimotor polyneuropathy and its treatment approach. J Clin Lipidol 2024;18:e285\u2013e289, https:\/\/doi.org\/10.1016\/j.jacl.2023.11.015.","DOI":"10.1016\/j.jacl.2023.11.015"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_005","doi-asserted-by":"crossref","unstructured":"Fitzgerald, ML, Mujawar, Z, Tamehiro, N. ABC transporters, atherosclerosis and inflammation. Atherosclerosis. 2010;211:361\u201370. https:\/\/doi.org\/10.1016\/j.atherosclerosis.2010.01.011.","DOI":"10.1016\/j.atherosclerosis.2010.01.011"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_006","doi-asserted-by":"crossref","unstructured":"Hooper, AJ, Hegele, RA, Burnett, JR. Tangier disease: update for 2020. Curr Opin Lipidol 2020;31:80\u20134. https:\/\/doi.org\/10.1097\/MOL.0000000000000669.","DOI":"10.1097\/MOL.0000000000000669"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_007","doi-asserted-by":"crossref","unstructured":"Fredrickson, DS, Altrocchi, PH, Avioli, LV, Goodman, DS, Goodman, HC. Tangier disease. Ann Intern Med 1961; 55: 1016\u201331, https:\/\/doi.org\/10.7326\/0003-4819-55-6-1016.","DOI":"10.7326\/0003-4819-55-6-1016"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_008","doi-asserted-by":"crossref","unstructured":"Smith, SA. Acquired peripheral neuropathies. In: Swaiman\u2019s pediatric neurology, principles and practice, 6th ed. Amsterdam, Netherlands: Elsevier; 2018:1082\u20135 pp.","DOI":"10.1016\/B978-0-323-37101-8.00142-9"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_009","doi-asserted-by":"crossref","unstructured":"Dumitru, RM. Genetic susceptibility in biochemical and physiological traits. In: Cardiovascular diseases, Chapter 9. 1st ed. Elsevier; 2016:177\u2013217 pp.","DOI":"10.1016\/B978-0-12-803312-8.00009-4"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_010","doi-asserted-by":"crossref","unstructured":"Per, H, Canpolat, M, Ulgen, E, Baran, B, Kardas, F, Gumus, H, et al.. Clinical, electrodiagnostic, and genetic features of Tangier disease in an adolescent girl with presentation of peripheral neuropathy. Neuropediatrics 2015;46:420\u20133. https:\/\/doi.org\/10.1055\/s-0035-1565275.","DOI":"10.1055\/s-0035-1565275"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_011","doi-asserted-by":"crossref","unstructured":"Liang, Z, Li, W, Yang, S, Liu, Z, Sun, X, Gao, X, et al.. Tangier disease may cause early onset of atherosclerotic cerebral infarction: a case report. Medicine (Baltim) 2018;97:e12472. https:\/\/doi.org\/10.1097\/MD.0000000000012472.","DOI":"10.1097\/MD.0000000000012472"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_012","unstructured":"Burnett, JR, Hooper, AJ, McCormick, SPA, Hegele, RA. Tangier disease. In: Adam, MP, Feldman, J, Mirzaa, GM, Pagon, RA, Wallace, SE, Bean, LJH, et al.., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 2019:1993\u20132024 pp. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1380\/."},{"key":"2025030110294545356_j_jpem-2024-0335_ref_013","doi-asserted-by":"crossref","unstructured":"Schaefer, EJ, Santos, RD, Asztalos, BF. Marked HDL deficiency and premature coronary heart disease. Curr Opin Lipidol 2010;21:289\u201397. https:\/\/doi.org\/10.1097\/MOL.0b013e32833c1ef6.","DOI":"10.1097\/MOL.0b013e32833c1ef6"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_014","unstructured":"Suehiro, T, Ikeda, Y. Tangier disease. Nihon Rinsho Jpn J Clin Med 2007;65:604-7. PMID: 17824095."},{"key":"2025030110294545356_j_jpem-2024-0335_ref_015","doi-asserted-by":"crossref","unstructured":"Mercan, M, Yayla, V, Altinay, S, Seyhan, S. Peripheral neuropathy in Tangier disease: a literature review and assessment. J Peripher Nerv Syst 2018;23:88\u201398. https:\/\/doi.org\/10.1111\/jns.12265.","DOI":"10.1111\/jns.12265"},{"key":"2025030110294545356_j_jpem-2024-0335_ref_016","doi-asserted-by":"crossref","unstructured":"Colaco, A, Kaya, E, Adriaenssens, E, Davis, LC, Zampieri, S, Fern\u00e1ndez-Su\u00e1rez, ME, et al.. Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease. J Inherit Metab Dis 2020;43:574\u201385. https:\/\/doi.org\/10.1002\/jimd.12191.","DOI":"10.1002\/jimd.12191"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0335\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0335\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T10:31:12Z","timestamp":1740825072000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0335\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,16]]},"references-count":16,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,1,17]]},"published-print":{"date-parts":[[2025,3,26]]}},"alternative-id":["10.1515\/jpem-2024-0335"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2024-0335","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,16]]}}}