Carlock Tanner, Kincaid-Sharp Eric, Orsello Christopher, Ford Aven W, El-Khoury Bashir B
Aerosp Med Hum Perform. 2025 Jun;96(6):525-529. doi: 10.3357/AMHP.6632.2025.
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.
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.
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. Carlock T, Kincaid-Sharp E, Orsello C, Ford AW, El-Khoury BB. Navigating Fabry disease in a military aviator. Aerosp Med Hum Perform. 2025; 96(6):525-529.
法布里病（FD）是一种罕见的X连锁溶酶体贮积症，由α-半乳糖苷酶A（α-Gal A）活性缺乏引起，导致糖鞘脂蓄积，并引发广泛的全身症状，包括神经、肾脏、心血管和脑血管表现。虽然该病影响约十万分之一的个体，但其发病率可能报告不足，此前尚无飞行员患病的记录。
一名30岁的美国空军C-5飞行员有FD家族史，基因检测后被诊断出携带致病性半乳糖苷酶α基因突变。初步评估显示为蛋白尿性肾病，其他神经系统检查正常，提示为早期FD，于是开始使用赖诺普利、氯吡格雷预防中风，并使用美国食品药品监督管理局新批准的伴侣疗法米加司他。患者对治疗耐受性良好，生化指标（α-Gal A活性和血浆Globotriaosylsphingosine水平）改善及临床稳定表明治疗反应良好。经过8个月的多学科监测和综合评估，他获得了有限期的航空医学豁免，并成功重返飞行岗位。
FD是一种由半乳糖苷酶α基因突变引起的罕见的进行性遗传病，导致α-Gal A缺乏和糖鞘脂蓄积，进而引发神经、肾脏、心脏和脑血管并发症。尽管航空医学风险较高，尤其是由于中风和脑血管问题，但FD患者在密切监测和多学科护理下可能符合受限飞行职责的条件。持续评估新疗法和个性化航空医学豁免可以在平衡安全和作战要求的同时，支持患有FD的飞行员。卡洛克T、金凯德-夏普E、奥塞洛C、福特AW、埃尔-库里BB。一名军事飞行员的法布里病诊治。航空航天医学与人类表现。2025；96（6）：525-529。
