{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T19:24:56Z","timestamp":1778786696750,"version":"3.51.4"},"reference-count":11,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T00:00:00Z","timestamp":1719446400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008322","name":"CSL Behring","doi-asserted-by":"publisher","award":["ZVS-2019092402"],"award-info":[{"award-number":["ZVS-2019092402"]}],"id":[{"id":"10.13039\/100008322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>Glanzmann Thrombasthenia (GT) is an inherited platelet disorder caused by defects in platelet integrin \u03b1IIb\u03b23 (GPIIb\/IIIa), which is a platelet receptor essential for the binding of fibrinogen. This can lead to severe bleeding, especially after trauma or perioperatively, and to microcytic anemia because of chronic blood loss. We report on a 40-year-old female patient with extensive bleeding complications and platelet antibody formation who presented in Homburg and Freiburg for extensive platelet function analyses and molecular genetic analyses. According to platelet aggregometry, the patient had previously been diagnosed with Glanzmann Thrombasthenia (GT). In addition, an MRI scan had been performed due to an unsteady gait and had revealed bilateral para-ophthalmic aneurysms of both internal carotid arteries (ICAs). Assuming a 5% rupture risk per 5 years for each aneurysm, the patient was offered and accepted endovascular treatment. Next-generation sequencing (NGS) panel analysis identified a previously undescribed homozygous one-base-pair deletion in ITGA2B, which leads to a loss of function of the \u03b1IIb-subunit of the receptor. This case illustrates the difficulties that can arise regarding the treatment of patients with rare platelet bleeding disorders, and supports the importance of continuous medical care by a specialized hemophilia center for these patients.<\/jats:p>","DOI":"10.3390\/diseases12070136","type":"journal-article","created":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T08:57:50Z","timestamp":1719478670000},"page":"136","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Catheter Intervention in a Patient with Intracranial Aneurysms and Glanzmann Thrombasthenia Caused by a Novel Homozygous Likely Pathogenic Variant in the ITGA2B Gene"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9238-2904","authenticated-orcid":false,"given":"Doris","family":"Boeckelmann","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center\u2014University of Freiburg, 79106 Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-6312-7775","authenticated-orcid":false,"given":"Lara","family":"von Dobeneck","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center\u2014University of Freiburg, 79106 Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6534-036X","authenticated-orcid":false,"given":"Hans","family":"Henkes","sequence":"additional","affiliation":[{"name":"Neuroradiological Clinic, Klinikum Stuttgart, 70174 Stuttgart, Germany"},{"name":"Institute for Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, 45147 Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann","family":"Eichler","sequence":"additional","affiliation":[{"name":"Institute of Clinical Hemostaseology and Transfusion Medicine, Saarland University and University Hospital, 66424 Homburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2750-7229","authenticated-orcid":false,"given":"Hannah","family":"Glonnegger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center\u2014University of Freiburg, 79106 Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4954-7029","authenticated-orcid":false,"given":"Barbara","family":"Zieger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center\u2014University of Freiburg, 79106 Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/humu.22776","article-title":"Expanding the Mutation Spectrum Affecting alphaIIbbeta3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort","volume":"36","author":"Nurden","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1160\/TH14-05-0479","article-title":"Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations","volume":"113","author":"Oldenburg","year":"2015","journal-title":"Thromb. Haemost."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1750-1172-1-10","article-title":"Glanzmann thrombasthenia","volume":"1","author":"Nurden","year":"2006","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/ajh.20159","article-title":"Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran","volume":"77","author":"Toogeh","year":"2004","journal-title":"Am. J. Hematol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"888","DOI":"10.3324\/haematol.2018.214239","article-title":"Glanzmann thrombasthenia: Genetic basis and clinical correlates","volume":"105","author":"Botero","year":"2020","journal-title":"Haematologica"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Siddiqi, M.Y.J., Boeckelmann, D., Naz, A., Imran, A., Ahmed, S., Najmuddin, A., and Zieger, B. (2023). Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor alphaIIbbeta3. 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Hemoph."},{"key":"ref_10","first-page":"e858","article-title":"A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia","volume":"17","author":"Siddiq","year":"2011","journal-title":"Haemoph. Off. J. World Fed. Hemoph."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e521","DOI":"10.1097\/MPH.0000000000001646","article-title":"Successful Use of Hematopoietic Stem Cell Transplantation for 2 Pediatric Cases of Glanzmann Thrombasthenia and Review of the Literature","volume":"42","author":"Friend","year":"2020","journal-title":"J. Pediatr. Hematol.\/Oncol."}],"container-title":["Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2079-9721\/12\/7\/136\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:06:19Z","timestamp":1760108779000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2079-9721\/12\/7\/136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,27]]},"references-count":11,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2024,7]]}},"alternative-id":["diseases12070136"],"URL":"https:\/\/doi.org\/10.3390\/diseases12070136","relation":{},"ISSN":["2079-9721"],"issn-type":[{"value":"2079-9721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,27]]}}}