Abstract：
BACKGROUND: Amyloidosis is a very heterogeneous disease. Correct diagnosis is extremely important because of the various treatment options for different types of amyloidosis. This study presents a case report and literature review of the misdiagnosis of fibrinogen Aα-chain amyloidosis (AFib amyloidosis).
METHODS: We report a 65-year-old man diagnosed with proteinuria in 2009. The kidney biopsy revealed the presence of Congo red-stained amyloid deposits. During differential diagnosis, amyloid deposits were discovered in adipose tissue and gingiva. Bone marrow trephine biopsy showed a predominance of lambda chains presenting plasmocytes. Based on performed medical examination, light chain amyloidosis was identified. Therefore, the patient received high-dose melphalan and underwent successful autologous peripheral blood stem cell transplantation. However, proteinuria, worsening of the kidneys\' function, and incorrect levels of free light chains were still observed. In 2019, due to continuous treatment failure, a previously acquired kidney biopsy was examined by mass spectrometry, and numerous fibrinogen deposits were identified. Recommended DNA analysis revealed that the patient had AFib amyloidosis. Therefore, chemotherapy treatment was abandoned, and successful kidney transplantation was performed.
CONCLUSIONS: Today, it is essential for medical practitioners to remember the possibility of rare and hereditary types of amyloidosis. There are multiple cases where a diagnosis was wrong or delayed because of the atypical course of the disease, the coexistence of another disease, and the rarity of AFib amyloidosis, and all of these reasons may result in the wrong treatment that will delay the right therapy. However, with the new, more precise diagnostics methods, such situations will become rare.
METHODS: We report a 65-year-old man diagnosed with proteinuria in 2009. The kidney biopsy revealed the presence of Congo red-stained amyloid deposits. During differential diagnosis, amyloid deposits were discovered in adipose tissue and gingiva. Bone marrow trephine biopsy showed a predominance of lambda chains presenting plasmocytes. Based on performed medical examination, light chain amyloidosis was identified. Therefore, the patient received high-dose melphalan and underwent successful autologous peripheral blood stem cell transplantation. However, proteinuria, worsening of the kidneys\' function, and incorrect levels of free light chains were still observed. In 2019, due to continuous treatment failure, a previously acquired kidney biopsy was examined by mass spectrometry, and numerous fibrinogen deposits were identified. Recommended DNA analysis revealed that the patient had AFib amyloidosis. Therefore, chemotherapy treatment was abandoned, and successful kidney transplantation was performed.
CONCLUSIONS: Today, it is essential for medical practitioners to remember the possibility of rare and hereditary types of amyloidosis. There are multiple cases where a diagnosis was wrong or delayed because of the atypical course of the disease, the coexistence of another disease, and the rarity of AFib amyloidosis, and all of these reasons may result in the wrong treatment that will delay the right therapy. However, with the new, more precise diagnostics methods, such situations will become rare.
摘要：
背景：淀粉样变性是一种非常异质性的疾病。正确的诊断非常重要，因为不同类型的淀粉样变性有多种治疗选择。本研究提供一例纤维蛋白原Aα链淀粉样变性(AFib淀粉样变性)的误诊病例报告及文献复习。
方法：我们报告了一名2009年诊断为蛋白尿的65岁男性。肾活检显示存在刚果红染色的淀粉样蛋白沉积物。在鉴别诊断期间，在脂肪组织和牙龈中发现了淀粉样蛋白沉积物。骨髓环钻活检显示，存在浆细胞的λ链占优势。根据进行的体检，确定了轻链淀粉样变性。因此,患者接受了大剂量美法仑,并成功进行了自体外周血干细胞移植.然而,蛋白尿,肾功能恶化，仍然观察到不正确水平的游离轻链。2019年，由于连续治疗失败，以前获得的肾活检通过质谱检查，并鉴定了许多纤维蛋白原沉积物。推荐的DNA分析显示患者患有AFib淀粉样变性。因此,化疗被放弃，成功进行了肾移植。
结论：今天，医生必须记住罕见和遗传性淀粉样变的可能性。有许多病例由于疾病的不典型病程而导致诊断错误或延迟，另一种疾病的共存，以及AFib淀粉样变性的罕见，所有这些原因都可能导致错误的治疗，从而延误正确的治疗。然而,与新的，更精确的诊断方法，这种情况将变得罕见。
方法：我们报告了一名2009年诊断为蛋白尿的65岁男性。肾活检显示存在刚果红染色的淀粉样蛋白沉积物。在鉴别诊断期间，在脂肪组织和牙龈中发现了淀粉样蛋白沉积物。骨髓环钻活检显示，存在浆细胞的λ链占优势。根据进行的体检，确定了轻链淀粉样变性。因此,患者接受了大剂量美法仑,并成功进行了自体外周血干细胞移植.然而,蛋白尿,肾功能恶化，仍然观察到不正确水平的游离轻链。2019年，由于连续治疗失败，以前获得的肾活检通过质谱检查，并鉴定了许多纤维蛋白原沉积物。推荐的DNA分析显示患者患有AFib淀粉样变性。因此,化疗被放弃，成功进行了肾移植。
结论：今天，医生必须记住罕见和遗传性淀粉样变的可能性。有许多病例由于疾病的不典型病程而导致诊断错误或延迟，另一种疾病的共存，以及AFib淀粉样变性的罕见，所有这些原因都可能导致错误的治疗，从而延误正确的治疗。然而,与新的，更精确的诊断方法，这种情况将变得罕见。
