Pleyer Christopher, Flesche Jan, Saeed Fahad
Department of Medicine, Cleveland Clinic Foundation, OH, USA.
Clin Nephrol Case Stud. 2015 Dec 28;3:42-45. doi: 10.5414/CNCS108538. eCollection 2015.
Lysozyme amyloidosis is an exceedingly rare hereditary autosomal dominant amyloidosis, which is characterized by the precipitation of lysozyme protein within the body, leading to multi-organ dysfunction. Herein, we present the case of a U.S. family affected by lysozyme amyloidosis. In particular, we report pericardial disease involvement leading to recurrent pericardial effusion, which to our knowledge has not been described yet. To our knowledge, we have also for the first time identified the amyloidogenic component of lysozyme amyloidosis via laser microdissection and mass spectrometry from a bone marrow biopsy. The diagnosis of this disease remains challenging as it can be easily mistaken for primary amyloidosis, which also presents with similar symptoms. Immunohistochemical staining of tissue for specific amyloidogenic proteins allows for an accurate diagnosis and should be performed in all amyloidosis patients in order to spare patients from potentially futile or harmful therapy. The widespread systemic involvement of lysozyme amyloidosis currently provides limited options for treatment, although kidney and/or liver transplantation appear to be promising palliative treatments. Practicing clinicians and researchers need to collect more information about this rare entity to further characterize the behavior of this disease and develop new potential treatment strategies.
溶菌酶淀粉样变性是一种极其罕见的常染色体显性遗传性淀粉样变性，其特征是溶菌酶蛋白在体内沉淀，导致多器官功能障碍。在此，我们报告一例受溶菌酶淀粉样变性影响的美国家庭病例。特别是，我们报告了心包疾病累及导致反复心包积液，据我们所知，此前尚未有过相关描述。据我们所知，我们还首次通过激光显微切割和骨髓活检质谱分析确定了溶菌酶淀粉样变性的淀粉样蛋白生成成分。该疾病的诊断仍然具有挑战性，因为它很容易被误诊为原发性淀粉样变性，后者也表现出类似症状。对组织进行特定淀粉样蛋白生成蛋白的免疫组织化学染色有助于准确诊断，所有淀粉样变性患者均应进行此项检查，以免患者接受可能无效或有害的治疗。尽管肾和/或肝移植似乎是有前景的姑息治疗方法，但溶菌酶淀粉样变性广泛的全身累及目前提供的治疗选择有限。临床医生和研究人员需要收集更多关于这种罕见疾病的信息，以进一步明确该疾病的特点并制定新的潜在治疗策略。
