Department of Cardiothoracic Science.
Department of Medical Area (DAME), University of Udine, Udine, Italy.
Curr Opin Organ Transplant. 2020 Jun;25(3):211-217. doi: 10.1097/MOT.0000000000000756.
To deeply investigate one type of intracellular cardiac storage disease, the Fabry disease and one example of extracellular cardiac storage disease, the cardiac amyloidosis, with the aim to collect data about cardiac treatment at the end-stage level and the feasibility of heart transplantation (HTx) in this setting of patients.
Some registry describes that Fabry disease and cardiac amyloidosis showed similar characteristics as hypertrophic cardiomyopathies; thus, their correct diagnosis is often missing or time consuming. A multiorgan approach is mandatory to recognize the main systemic findings of these diseases, involving also the kidneys, the brain, the autonomous system and the skin.
The early diagnosis of these diseases is required to start as soon as possible the correct therapy for the patients affected. However, the end-stage heart failure is common and HTx could be offered to selected patients, especially if affected by light chain cardiac amyloidosis, to allow to perform the autologous stem cell transplantation after the cardiac transplant. Considering the Fabry disease patients, the enzyme recombinant therapy is also mandatory after HTx to avoid potential release of the systemic disease on the donor graft.
深入研究一种细胞内心脏储存疾病（即法布里病）和一种细胞外心脏储存疾病（即心脏淀粉样变性），旨在收集晚期心脏治疗的数据以及在这种情况下进行心脏移植（HTx）的可行性。
一些登记处表明，法布里病和心脏淀粉样变性与肥厚型心肌病具有相似的特征；因此，它们的正确诊断往往缺失或耗时。必须采用多器官方法来识别这些疾病的主要系统表现，包括肾脏、大脑、自主神经系统和皮肤。
这些疾病的早期诊断需要尽快为受影响的患者开始正确的治疗。然而，晚期心力衰竭很常见，HTx 可以提供给选定的患者，特别是如果患者患有轻链心脏淀粉样变性，以便在心脏移植后进行自体干细胞移植。对于法布里病患者，HTx 后还必须进行酶重组治疗，以避免供体移植物上系统性疾病的潜在释放。
