Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czechia.
Institute of Molecular and Clinical Pathology and Medical Genetics, Faculty of Medicine, University of Ostrava, Ostrava, Czechia.
Pathol Oncol Res. 2023 Sep 22;29:1611390. doi: 10.3389/pore.2023.1611390. eCollection 2023.
Amyloidosis is a rare metabolic disorder primarily brought on by misfolding of an autologous protein, which causes its local or systemic deposition in an aberrant fibrillar form. It is quite rare for pulmonary tissue to be impacted by amyloidosis; of the three forms it can take when involving pulmonary tissue, nodular pulmonary amyloidosis is the most uncommon. Nodular pulmonary amyloidosis rarely induces clinical symptoms, and most often, it is discovered accidentally during an autopsy or imaging techniques. Only one case of nodular pulmonary amyloidosis, which manifested as a spontaneous pneumothorax, was found in the literature. In terms of more precise subtyping, nodular amyloidosis is typically AL or mixed AL/AH type. No publications on AH-dominant type of nodular amyloidosis were found in the literature. We present a case of an 81 years-old male with nodular pulmonary AH-dominant type amyloidosis who presented with spontaneous pneumothorax. For a deeper understanding of the subject, this study also provides a review of the literature on cases with nodular pulmonary amyloidosis in relation to precise amyloid fibril subtyping. Since it is often a difficult process, accurate amyloid type identification is rarely accomplished. However, this information is very helpful for identifying the underlying disease process (if any) and outlining the subsequent diagnostic and treatment steps. Even so, it is crucial to be aware of this unit and make sure it is taken into consideration when making a differential diagnosis of pulmonary lesions.
淀粉样变性是一种罕见的代谢紊乱疾病，主要由自身蛋白错误折叠引起，导致其以异常纤维形式在局部或全身沉积。肺部组织受淀粉样变性影响的情况非常少见；在涉及肺部组织的三种形式中，结节性肺淀粉样变性最为罕见。结节性肺淀粉样变性很少引起临床症状，大多数情况下是在尸检或影像学检查中偶然发现的。文献中仅发现一例表现为自发性气胸的结节性肺淀粉样变性病例。在更精确的亚型分类方面，结节性淀粉样变性通常为 AL 或混合 AL/AH 型。文献中未发现以 AH 为主型的结节性淀粉样变性病例。我们报告了一例 81 岁男性患有结节性肺 AH 为主型淀粉样变性，表现为自发性气胸。为了更深入地了解该疾病，本研究还对与精确淀粉样纤维亚型分类相关的结节性肺淀粉样变性病例进行了文献复习。由于这通常是一个困难的过程，因此很少能准确识别淀粉样蛋白类型。然而，这些信息对于识别潜在的疾病过程（如果存在）和概述随后的诊断和治疗步骤非常有帮助。即便如此，了解这种病变并在对肺部病变进行鉴别诊断时加以考虑至关重要。
