Fabry disease is an X linked disease caused by pathogenic variants in the GLA gene. The cardiovascular and renal systems are most affected in Fabry patients and may require heart or kidney transplants in the late stages of the disease depending on severity of manifestations. Enzyme replacement therapy (ERT) has proven to delay progression of Fabry disease considerably, especially when started early in life. Current research has shown that individuals who have received cardiac or renal transplants or are currently on dialysis have the greatest probability of developing severe manifestations of COVID-19. It has also been shown that people who contract COVID-19 experience a rapid increase in cytokine levels which can lead to a prothrombotic state and have a greater risk in the presence of comorbidities. A history of cardiac or renal transplants as well as the naturally elevated cytokine levels in Fabry disease make it likely that COVID-19 could have a greater impact on the health of these patients. We report the case of a 67-year-old male with diabetes mellitus, history of kidney transplant, and Fabry disease treated late in progression of the disease first with agalsidase beta ERT, then oral migalastat who developed severe manifestations of COVID-19. The autopsy findings showed acute and organizing hyaline membrane disease consistent with COVID-19 pneumonia and secondary invasive bronchopulmonary aspergillosis with cavitary lesion formation. The sections of the heart showed scattered subendocardial fibrosis, and the transplanted kidneys showed thyroidization and interstitial nephritis potentially secondary to COVID-19, in addition to his long-standing renal disease. This case report serves to chronicle complications in a complex patient with late stage Fabry disease and multiple COVID-19 related complications who succumbed from respiratory failure despite the advanced management for the COVID-19 infection.

法布里病是由GLA 中的致病变异引起的 X 连锁疾病基因。法布里患者的心血管和肾脏系统受到的影响最大，根据表现的严重程度，可能需要在疾病晚期进行心脏或肾脏移植。酶替代疗法 (ERT) 已被证明可显着延缓法布里病的进展，尤其是在生命早期开始时。目前的研究表明，接受过心脏或肾脏移植或目前正在接受透析的人最有可能出现 COVID-19 的严重表现。还表明，感染 COVID-19 的人会经历细胞因子水平的快速增加，这可能导致血栓前状态，并在存在合并症的情况下具有更大的风险。心脏或肾脏移植史以及法布里病中细胞因子水平的自然升高使得 COVID-19 可能对这些患者的健康产生更大的影响。我们报告了一名患有糖尿病、肾移植史和法布里病的 67 岁男性的病例，在疾病进展晚期首先使用阿加糖酶β ERT 进行治疗，然后口服米加司他出现 COVID-19 的严重表现。尸检结果显示急性和组织性透明膜病与 COVID-19 肺炎和继发性侵袭性支气管肺曲霉病相一致，并伴有空洞病变形成。心脏切片显示散在的心内膜下纤维化，移植的肾脏显示甲状腺化和间质性肾炎，可能继发于 COVID-19，除了他长期存在的肾病。本病例报告记录了一位患有晚期法布里病和多种 COVID-19 相关并发症的复杂患者的并发症，尽管对 COVID-19 感染进行了先进的管理，但这些患者仍死于呼吸衰竭。