{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T00:40:03Z","timestamp":1749170403404,"version":"3.41.0"},"reference-count":11,"publisher":"Aerospace Medical Association","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:p><jats:bold>BACKGROUND:<\/jats:bold> Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A (alpha-Gal A) activity, leading to the accumulation of glycosphingolipids and resulting in a wide spectrum of systemic symptoms, including neurological, renal, cardiovascular, and cerebrovascular manifestations. While the disease affects approximately 1 in 100,000 individuals, its incidence may be underreported, and no cases in aviators have previously been documented.<\/jats:p>\n<jats:p><jats:bold>CASE REPORT:<\/jats:bold> A 30-yr-old U.S. Air Force C-5 pilot with a family history of FD was diagnosed with a pathogenic galactosidase alpha gene variant after genetic testing. Initial evaluations revealed proteinuric kidney disease and an otherwise normal neurological workup indicating early FD, prompting initiation of lisinopril, clopidogrel for stroke prevention, and the newly Food and Drug Administration-approved chaperone therapy migalastat. The patient tolerated treatment well with appropriate response to therapy as demonstrated by improved biochemical parameters (alpha-Gal A activity and plasma globotriaosylsphingosine levels) and clinical stability. After 8 mo of multidisciplinary monitoring and comprehensive evaluation, he was granted a time-limited aeromedical waiver and successfully returned to flying duties.<\/jats:p>\n<jats:p><jats:bold>DISCUSSION:<\/jats:bold> FD is a rare, progressive genetic disorder caused by galactosidase alpha gene variants, resulting in alpha-Gal A deficiency and glycosphingolipid accumulation, leading to neurological, renal, cardiac, and cerebrovascular complications. Despite higher aeromedical risks, especially due to stroke and cerebrovascular issues, FD patients may qualify for restricted flight duties under close monitoring and multidisciplinary care. Continued evaluation of novel therapies and individualized aeromedical waivers can support aviators with FD while balancing safety and operational requirements.<\/jats:p>\n<jats:p><jats:bold>Carlock T, Kincaid-Sharp E, Orsello C, Ford AW, El-Khoury BB. <jats:italic>Navigating Fabry disease in a military aviator<\/jats:italic>. Aerosp Med Hum Perform. 2025; 96(6):525\u2013529.<\/jats:bold><\/jats:p>","DOI":"10.3357\/amhp.6632.2025","type":"journal-article","created":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T00:01:17Z","timestamp":1747785677000},"page":"525-529","source":"Crossref","is-referenced-by-count":0,"title":["Navigating Fabry Disease in a Military Aviator"],"prefix":"10.3357","volume":"96","author":[{"given":"Tanner","family":"Carlock","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Kincaid-Sharp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Orsello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aven W.","family":"Ford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bashir B.","family":"El-Khoury","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1911","reference":[{"key":"B1","series-title":"Orphanet J Rare Dis.","first-page":"30","article-title":"Fabry disease","volume":"5","author":"Germain DP.","year":"2010","unstructured":"Germain DP. Fabry disease. Orphanet J Rare Dis. 2010; 5:30."},{"key":"B2","series-title":"Fabry Disease: Perspectives from 5 Years of FOS.","article-title":"General aspects of X-linked diseases","author":"Germain DP.","unstructured":"Germain DP. General aspects of X-linked diseases. In: Mehta A, Beck M, Sunder-Plassmann G, eds. Fabry Disease: Perspectives from 5 Years of FOS. Oxford PharmaGenesis; 2006. Accessed December 25, 2024. [Accessed 8 April 2025]. Available from http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK11593\/."},{"issue":"4","key":"B3","series-title":"Mol Genet Metab.","first-page":"416","article-title":"Fabry disease revisited: management and treatment recommendations for adult patients","volume":"123","author":"Ortiz A","year":"2018","unstructured":"Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M,  Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018; 123(4):416\u2013427."},{"issue":"6","key":"B4","series-title":"N Engl J Med.","first-page":"545","article-title":"Treatment of Fabry\u2019s disease with the pharmacologic chaperone migalastat","volume":"375","author":"Germain DP","year":"2016","unstructured":"Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R,  Treatment of Fabry\u2019s disease with the pharmacologic chaperone migalastat. N Engl J Med. 2016; 375(6):545\u2013555."},{"issue":"11","key":"B5","series-title":"J Cell Mol Med.","first-page":"2552","article-title":"Antiplatelet therapy in secondary stroke prevention\u2013state of the art","volume":"14","author":"Diener HC","year":"2010","unstructured":"Diener HC, Weimar C, Weber R. Antiplatelet therapy in secondary stroke prevention\u2013state of the art. J Cell Mol Med. 2010; 14(11):2552\u20132560."},{"issue":"111","key":"B6","series-title":"Kidney Int Suppl.","first-page":"S29","article-title":"Renal manifestations in Fabry disease and therapeutic options","author":"Torra R.","year":"2008","unstructured":"Torra R. Renal manifestations in Fabry disease and therapeutic options. Kidney Int Suppl. 2008(111):S29\u2013S32."},{"issue":"1","key":"B7","series-title":"Nephron Clin Pract.","first-page":"c43","article-title":"Blood pressure, proteinuria and nephropathy in Fabry disease","volume":"118","author":"Jain G","year":"2010","unstructured":"Jain G, Warnock DG. Blood pressure, proteinuria and nephropathy in Fabry disease. Nephron Clin Pract. 2010; 118(1):c43\u2013c48."},{"key":"B8","series-title":"Can J Kidney Health Dis.","article-title":"Renal manifestations of Fabry disease: a narrative review","volume":"8","author":"Silva CAB","year":"2021","unstructured":"Silva CAB, Moura-Neto JA, Dos Reis MA, Vieira Neto OM, Barreto FC. Renal manifestations of Fabry disease: a narrative review. Can J Kidney Health Dis. 2021; 8:2054358120985627."},{"issue":"3","key":"B9","series-title":"Stroke.","first-page":"788","article-title":"Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry","volume":"40","author":"Sims K","year":"2009","unstructured":"Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009; 40(3):788\u2013794."},{"issue":"1","key":"B10","series-title":"Ann Neurol.","first-page":"8","article-title":"Cerebrovascular complications of Fabry\u2019s disease","volume":"40","author":"Mitsias P","year":"1996","unstructured":"Mitsias P, Levine SR. Cerebrovascular complications of Fabry\u2019s disease. Ann Neurol. 1996; 40(1):8\u201317."},{"issue":"6","key":"B11","series-title":"Neurology.","first-page":"1746","article-title":"Quantitative analysis of cerebral vasculopathy in patients with Fabry disease","volume":"50","author":"Crutchfield KE","year":"1998","unstructured":"Crutchfield KE, Patronas NJ, Dambrosia JM, Frei KP, Banerjee TK,  Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology. 1998; 50(6):1746\u20131749."}],"container-title":["Aerospace Medicine and Human Performance"],"original-title":[],"link":[{"URL":"https:\/\/asma.kglmeridian.com\/view\/journals\/amhp\/96\/6\/article-p525.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/asma.kglmeridian.com\/downloadpdf\/journals\/amhp\/96\/6\/article-p525.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/asma.kglmeridian.com\/downloadpdf\/journals\/amhp\/96\/6\/article-p525.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T00:03:08Z","timestamp":1749168188000},"score":1,"resource":{"primary":{"URL":"https:\/\/asma.kglmeridian.com\/view\/journals\/amhp\/96\/6\/article-p525.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":11,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.3357\/amhp.6632.2025","relation":{},"ISSN":["2375-6314","2375-6322"],"issn-type":[{"type":"print","value":"2375-6314"},{"type":"electronic","value":"2375-6322"}],"subject":[],"published":{"date-parts":[[2025,6]]}}}