{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T13:28:47Z","timestamp":1740144527359,"version":"3.37.3"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,9,5]],"date-time":"2022-09-05T00:00:00Z","timestamp":1662336000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,9,5]],"date-time":"2022-09-05T00:00:00Z","timestamp":1662336000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Fabry disease (FD) is a rare metabolic disorder, in which a lifelong enzyme replacement therapy (ERT) constitutes the cornerstone of disease-specific therapy. In this study, we examined the effects of the COVID-19 pandemic and lockdown measures on the management of FD patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We collected data in three main domains; mood status, adherence to ERT, and COVID-19 infection. We used the Hospital Anxiety and Depression Scale (HADS) to evaluate the mood statuses of FD patients and the Morisky Medication Adherence Scale (MMAS) and the Medication Adherence Report Scale (MARS) to assess patients\u2019 adherence to non-disease specific therapy. We also examined a control group to compare the mood status data.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>A total of 67 FD patients (males: 47.8%, mean age: 37.0\u00a0years) were recruited to the study, of which 58 were receiving ERT. Both the HADS depression and anxiety scores were higher in the control group compared to FD patients. During the first wave of the pandemic, 25 patients reported to have missed an infusion for a mean of 2.3\u2009\u00b1\u20091.7 doses and half of the patients had adopted a home-based infusion treatment regimen. COVID-19 infection developed in 25 patients, of which one died. The majority of our patients (71.6%) have had at least one shot of the vaccine.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>We found that FD patients were more resilient to the negative psychological effects of lockdown. Traumatic growth may be an important factor in explaining this finding. Government-supported home therapy programs might be beneficial for FD patients to increase the therapy adherence.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-022-02491-7","type":"journal-article","created":{"date-parts":[[2022,9,5]],"date-time":"2022-09-05T11:03:08Z","timestamp":1662375788000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection"],"prefix":"10.1186","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0969-7708","authenticated-orcid":false,"given":"Cebrail","family":"Karaca","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5397-7697","authenticated-orcid":false,"given":"Mevlut Tamer","family":"Dincer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4341-5252","authenticated-orcid":false,"given":"Seyda Gul","family":"Ozcan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4424-5101","authenticated-orcid":false,"given":"Betul","family":"Sarac","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5961-3037","authenticated-orcid":false,"given":"Saffa","family":"Ahmadzada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5416-2257","authenticated-orcid":false,"given":"Selma","family":"Alagoz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0664-5822","authenticated-orcid":false,"given":"Alev","family":"Bakir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5170-5594","authenticated-orcid":false,"given":"Ertugrul","family":"Kiykim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3843-5950","authenticated-orcid":false,"given":"Sinan","family":"Trabulus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7427-618X","authenticated-orcid":false,"given":"Nurhan","family":"Seyahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,9,5]]},"reference":[{"key":"2491_CR1","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/1750-1172-5-30","volume":"5","author":"DP Germain","year":"2010","unstructured":"Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. https:\/\/doi.org\/10.1186\/1750-1172-5-30.","journal-title":"Orphanet J Rare Dis"},{"key":"2491_CR2","unstructured":"World Health Organization. WHO Director-General\u2019s opening remarks at the media briefing on COVID-19 [Internet]. https:\/\/www.who.int\/director-general\/speeches\/detail\/who-director-general-s-opening-remarks-at-the-media-briefing-on-covid-19---11-march-2020. Accessed 24 Dec 2021."},{"key":"2491_CR3","unstructured":"Republic of Turkey, Ministry of Interior. Circular letter on the curfew for those 65 years and over and those with chronic illnesses [Internet]. https:\/\/www.icisleri.gov.tr\/65-yas-ve-ustu-ile-kronik-rahatsizligi-olanlara-sokaga-cikma-yasagi-genelgesi. Accessed 24 Dec 2021."},{"key":"2491_CR4","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.ymgme.2016.06.007","volume":"119","author":"RJ Hopkin","year":"2016","unstructured":"Hopkin RJ, Cabrera G, Charrow J, et al. Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: data from the Fabry Registry. Mol Genet Metab. 2016;119:151\u20139. https:\/\/doi.org\/10.1016\/j.ymgme.2016.06.007.","journal-title":"Mol Genet Metab"},{"key":"2491_CR5","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1093\/ckj\/sfaa227","volume":"13","author":"DA Laney","year":"2020","unstructured":"Laney DA, Germain DP, Oliveira JP, et al. Fabry disease and COVID-19: international expert recommendations for management based on real-world experience. Clin Kidney J. 2020;13:913\u201325. https:\/\/doi.org\/10.1093\/ckj\/sfaa227.","journal-title":"Clin Kidney J"},{"key":"2491_CR6","doi-asserted-by":"publisher","DOI":"10.6002\/ect.2020.0488","author":"SG Ozcan","year":"2021","unstructured":"Ozcan SG, Poyraz BC, Bakir A, Trabulus S, Pekmezci S, Seyahi N. Coronavirus pandemic: mood statuses of renal transplant recipients during social isolation and lockdown periods. Exp Clin Transplant. 2021. https:\/\/doi.org\/10.6002\/ect.2020.0488.","journal-title":"Exp Clin Transplant"},{"key":"2491_CR7","doi-asserted-by":"publisher","DOI":"10.1159\/000517839","author":"C Karaca","year":"2021","unstructured":"Karaca C, Eren N, Dincer MT, et al. How dialysis patients cope with a curfew? A comparison of psychological status between hemodialysis and peritoneal dialysis patients during the COVID-19 pandemic. Blood Purif. 2021. https:\/\/doi.org\/10.1159\/000517839.","journal-title":"Blood Purif"},{"key":"2491_CR8","doi-asserted-by":"publisher","DOI":"10.1111\/1744-9987.13767","author":"S Alagoz","year":"2021","unstructured":"Alagoz S, Eren N, Ozcan SG, et al. Impact of COVID-19 lockdown on mood status: a comparison of hemodialysis and oncology patients. Ther Apher Dial. 2021. https:\/\/doi.org\/10.1111\/1744-9987.13767.","journal-title":"Ther Apher Dial"},{"key":"2491_CR9","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1111\/j.1600-0447.1983.tb09716.x","volume":"67","author":"AS Zigmond","year":"1983","unstructured":"Zigmond AS, Snaith RP. The hospital anxiety and depression scale. Acta Psychiatr Scand. 1983;67:361\u201370. https:\/\/doi.org\/10.1111\/j.1600-0447.1983.tb09716.x.","journal-title":"Acta Psychiatr Scand"},{"key":"2491_CR10","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/1477-7525-1-29","volume":"1","author":"RP Snaith","year":"2003","unstructured":"Snaith RP. The hospital anxiety and depression scale. Health Qual Life Outcomes. 2003;1:29. https:\/\/doi.org\/10.1186\/1477-7525-1-29.","journal-title":"Health Qual Life Outcomes"},{"key":"2491_CR11","first-page":"280","volume":"8","author":"O Aydemir","year":"1997","unstructured":"Aydemir O, Guvenir T, Kuey L, Kultur S. Validity and reliability of Turkish version of hospital anxiety and depression scale. Turk J Psychiatry. 1997;8:280\u20137.","journal-title":"Turk J Psychiatry"},{"key":"2491_CR12","doi-asserted-by":"publisher","first-page":"1281","DOI":"10.1111\/bcp.14193","volume":"86","author":"AHY Chan","year":"2020","unstructured":"Chan AHY, Horne R, Hankins M, Chisari C. The medication adherence report scale: a measurement tool for eliciting patients\u2019 reports of nonadherence. Br J Clin Pharmacol. 2020;86:1281\u20138. https:\/\/doi.org\/10.1111\/bcp.14193.","journal-title":"Br J Clin Pharmacol"},{"key":"2491_CR13","doi-asserted-by":"publisher","first-page":"52","DOI":"10.26650\/IUITFD.413637","volume":"82","author":"ET Sen","year":"2019","unstructured":"Sen ET, Berk OS, Sindel D. The validity and reliability study of the Turkish adaptation of medical adherence report scale. J Ist Fac Med. 2019;82:52\u201361. https:\/\/doi.org\/10.26650\/IUITFD.413637.","journal-title":"J Ist Fac Med"},{"key":"2491_CR14","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1097\/00005650-198601000-00007","volume":"24","author":"DE Morisky","year":"1986","unstructured":"Morisky DE, Green LW, Levine DM. Concurrent and predictive validity of a self-reported measure of medication adherence. Med Care. 1986;24:67\u201374. https:\/\/doi.org\/10.1097\/00005650-198601000-00007.","journal-title":"Med Care"},{"key":"2491_CR15","doi-asserted-by":"publisher","first-page":"141","DOI":"10.5455\/apd.39827","volume":"15","author":"G Bahar","year":"2014","unstructured":"Bahar G, Savas HA, Unal A, Savas E, Kaya H, Bahar A. Reliability and validity of the Morisky Medication Adherence Scale for bipolar mood disorder. Anatol J Psychiatry. 2014;15:141\u20139. https:\/\/doi.org\/10.5455\/apd.39827.","journal-title":"Anatol J Psychiatry"},{"issue":"18","key":"2491_CR16","doi-asserted-by":"publisher","first-page":"1757","DOI":"10.1056\/NEJMcp2009249","volume":"383","author":"RT Gandhi","year":"2020","unstructured":"Gandhi RT, Lynch JB, Del Rio C. Mild or moderate covid-19. N Engl J Med. 2020;383(18):1757\u201366. https:\/\/doi.org\/10.1056\/NEJMcp2009249.","journal-title":"N Engl J Med"},{"key":"2491_CR17","doi-asserted-by":"publisher","first-page":"2756","DOI":"10.1111\/jocn.15290","volume":"29","author":"K Usher","year":"2020","unstructured":"Usher K, Bhullar N, Jackson D. Life in the pandemic: social isolation and mental health. J Clin Nurs. 2020;29:2756\u20137. https:\/\/doi.org\/10.1111\/jocn.15290.","journal-title":"J Clin Nurs"},{"key":"2491_CR18","doi-asserted-by":"publisher","first-page":"100788","DOI":"10.1016\/j.ymgmr.2021.100788","volume":"28","author":"D Elstein","year":"2021","unstructured":"Elstein D, Giugliani R, Muenzer J, Schenk J, Schwartz IVD, Anagnostopoulou C. Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: a survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries. Mol Genet Metab Rep. 2021;28:100788. https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100788.","journal-title":"Mol Genet Metab Rep"},{"key":"2491_CR19","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1515\/jpem-2021-0067","volume":"34","author":"AB Kahraman","year":"2021","unstructured":"Kahraman AB, Yildiz Y, Ciki K, et al. Invisible burden of COVID-19: enzyme replacement therapy disruptions. J Pediatr Endocrinol Metab. 2021;34:539\u201345. https:\/\/doi.org\/10.1515\/jpem-2021-0067.","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2491_CR20","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/j.ymgme.2020.04.002","volume":"130","author":"A Sechi","year":"2020","unstructured":"Sechi A, Macor D, Valent S, et al. Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience. Mol Genet Metab. 2020;130:170\u20131. https:\/\/doi.org\/10.1016\/j.ymgme.2020.04.002.","journal-title":"Mol Genet Metab"},{"key":"2491_CR21","doi-asserted-by":"publisher","first-page":"8242","DOI":"10.3390\/ijerph18168242","volume":"18","author":"M Nowicki","year":"2021","unstructured":"Nowicki M, Bazan-Socha S, K\u0142opotowski M, et al. Considerations for home-based treatment of Fabry disease in Poland during the COVID-19 pandemic and beyond. Int J Environ Res Public Health. 2021;18:8242. https:\/\/doi.org\/10.3390\/ijerph18168242.","journal-title":"Int J Environ Res Public Health"},{"key":"2491_CR22","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/j.jpeds.2007.02.057","volume":"151","author":"G Drelichman","year":"2007","unstructured":"Drelichman G, Ponce E, Basack N, et al. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. J Pediatr. 2007;151:197\u2013201. https:\/\/doi.org\/10.1016\/j.jpeds.2007.02.057.","journal-title":"J Pediatr"},{"key":"2491_CR23","doi-asserted-by":"publisher","first-page":"100572","DOI":"10.1016\/j.ymgmr.2020.100572","volume":"23","author":"M Solano","year":"2020","unstructured":"Solano M, Fainboim A, Politei J, et al. Enzyme replacement therapy interruption in patients with mucopolysaccharidoses: recommendations for distinct scenarios in Latin America. Mol Genet Metab Rep. 2020;23:100572. https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100572.","journal-title":"Mol Genet Metab Rep"},{"key":"2491_CR24","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/j.ymgme.2020.06.002","volume":"130","author":"J Politei","year":"2020","unstructured":"Politei J. Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued. Mol Genet Metab. 2020;130:227\u20139. https:\/\/doi.org\/10.1016\/j.ymgme.2020.06.002.","journal-title":"Mol Genet Metab"},{"key":"2491_CR25","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/S1853-0028(11)70024-6","volume":"3","author":"G Cabrera","year":"2011","unstructured":"Cabrera G, Politei J. Interruption of enzyme replacement therapy in Fabry disease: unfavorable outcome. Neurol Argent. 2011;3:113\u2013111.","journal-title":"Neurol Argent"},{"key":"2491_CR26","doi-asserted-by":"publisher","first-page":"449","DOI":"10.17219\/acem\/132038","volume":"30","author":"M Kusztal","year":"2021","unstructured":"Kusztal M, Klopotowski M, Bazan-Socha S, et al. Is home-based therapy in Fabry disease the answer to compelling patients\u2019 needs during the COVID-19 pandemic? Survey results from the Polish FD Collaborative Group. Adv Clin Exp Med. 2021;30:449\u201354. https:\/\/doi.org\/10.17219\/acem\/132038.","journal-title":"Adv Clin Exp Med"},{"key":"2491_CR27","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1016\/j.ymgme.2020.07.008","volume":"131","author":"E Riccio","year":"2020","unstructured":"Riccio E, Pieroni M, Limoneglli G, Pisani A. Impact of COVID-19 pandemic on patients with Fabry disease: an Italian experience. Mol Genet Metab. 2020;131:124\u20135. https:\/\/doi.org\/10.1016\/j.ymgme.2020.07.008.","journal-title":"Mol Genet Metab"},{"key":"2491_CR28","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-021-05056-2","author":"G Ozcifci","year":"2021","unstructured":"Ozcifci G, Aydin T, Atli Z, et al. The incidence, clinical characteristics, and outcome of COVID-19 in a prospectively followed cohort of patients with Behcet\u2019s syndrome. Rheumatol Int. 2021. https:\/\/doi.org\/10.1007\/s00296-021-05056-2.","journal-title":"Rheumatol Int"},{"key":"2491_CR29","unstructured":"Turkish Ministry of Health. COVID-19 Situation Report [Internet]. https:\/\/covid19.saglik.gov.tr\/TR-66935\/genel-koronavirus-tablosu.html. Accessed 24 Dec 2021."},{"key":"2491_CR30","unstructured":"Turkish Statistical Institute. The results of address based population registration system [Internet]. https:\/\/data.tuik.gov.tr\/Bulten\/Index?p=37210. Accessed 24 Dec 2021."},{"key":"2491_CR31","unstructured":"Turkish Ministry of Health. Covid-19 vaccination information platform [Internet]. https:\/\/covid19asi.saglik.gov.tr\/. Accessed 24 Dec 2021."},{"issue":"3","key":"2491_CR32","doi-asserted-by":"publisher","first-page":"228","DOI":"10.7883\/yoken.JJID.2020.729","volume":"74","author":"M G\u00f3mez-Luj\u00e1n","year":"2021","unstructured":"G\u00f3mez-Luj\u00e1n M, Cruzalegui C, Aguilar C, et al. When frequent (pandemic) occurs in a non-frequent disease: COVID-19 and Fabry disease: report of two cases. Jpn J Infect Dis. 2021;74(3):228\u201332. https:\/\/doi.org\/10.7883\/yoken.JJID.2020.729.","journal-title":"Jpn J Infect Dis"},{"issue":"6","key":"2491_CR33","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1016\/j.cell.2020.10.039","volume":"183","author":"S Ghosh","year":"2020","unstructured":"Ghosh S, Dellibovi-Ragheb TA, Kerviel A, et al. \u03b2-coronaviruses use lysosomes for egress instead of the biosynthetic secretory pathway. Cell. 2020;183(6):1520-1535.e14. https:\/\/doi.org\/10.1016\/j.cell.2020.10.039.","journal-title":"Cell"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02491-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-022-02491-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02491-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,5]],"date-time":"2022-10-05T12:35:21Z","timestamp":1664973321000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-022-02491-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,5]]},"references-count":33,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["2491"],"URL":"https:\/\/doi.org\/10.1186\/s13023-022-02491-7","relation":{},"ISSN":["1750-1172"],"issn-type":[{"type":"electronic","value":"1750-1172"}],"subject":[],"published":{"date-parts":[[2022,9,5]]},"assertion":[{"value":"2 May 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 August 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 September 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Clinical Research Ethics Committee of Cerrahpasa Medical Faculty (approval number 29430533) and certify that the study was performed in accordance with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Patients signed informed consent regarding publishing their data.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors have declared that no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"338"}}