Cabataña Gilbert J, Cebrecus Jude P, Ponce Susie, Rafanan Albert L, Saranza Gerard
Neurology, Chong Hua Hospital, Cebu, PHL.
Internal Medicine, Chong Hua Hospital, Cebu, PHL.
Cureus. 2025 Jul 17;17(7):e88195. doi: 10.7759/cureus.88195. eCollection 2025 Jul.
Systemic light chain (AL) amyloidosis is a rare, life-threatening disorder caused by the misfolding and deposition of monoclonal immunoglobulin light chains as amyloid fibrils in various organs, leading to progressive dysfunction. We report the case of a 58-year-old Filipino male who presented with a four-month history of painful paresthesia, progressive neuropathy, significant weight loss, and autonomic symptoms, including orthostatic hypotension and gastrointestinal dysmotility. Initial workup revealed a length-dependent axonal and demyelinating polyneuropathy. Chest imaging showed diffuse micronodules and lymphadenopathy, prompting further investigation. Histopathological analysis of lymph node tissue with Congo red staining confirmed amyloid deposition, while bone marrow immunohistochemistry demonstrated monoclonal kappa light chain expression and markers consistent with lymphoplasmacytic lymphoma. The patient's multisystemic involvement, including peripheral and autonomic neuropathy, exemplifies the protean clinical manifestations of AL amyloidosis and the diagnostic challenges it poses, particularly in resource-limited settings. Early recognition is crucial, as delayed diagnosis often results in irreversible organ damage and poor prognosis for those presenting with neuropathy. Treatment, adapted from multiple myeloma protocols, centers on eliminating the amyloidogenic clone using bortezomib, cyclophosphamide, and dexamethasone, although access to newer agents like daratumumab remains limited. This case underscores the need for heightened clinical suspicion, multidisciplinary collaboration, and improved diagnostic infrastructure to optimize outcomes for patients with AL amyloidosis in the Philippines and similar settings.
系统性轻链(AL)淀粉样变性是一种罕见的、危及生命的疾病,由单克隆免疫球蛋白轻链错误折叠并以淀粉样原纤维形式沉积在各种器官中引起,导致进行性功能障碍。我们报告了一例58岁的菲律宾男性病例,该患者有4个月的疼痛性感觉异常、进行性神经病变、显著体重减轻以及自主神经症状,包括体位性低血压和胃肠动力障碍的病史。初步检查发现了长度依赖性轴索性和脱髓鞘性多发性神经病变。胸部影像学显示弥漫性微小结节和淋巴结病,促使进一步检查。刚果红染色的淋巴结组织病理分析证实了淀粉样蛋白沉积,而骨髓免疫组化显示单克隆κ轻链表达以及与淋巴浆细胞淋巴瘤一致的标志物。该患者的多系统受累,包括周围神经和自主神经病变,体现了AL淀粉样变性多变的临床表现及其带来的诊断挑战,尤其是在资源有限的环境中。早期识别至关重要,因为延迟诊断往往会导致不可逆的器官损伤,对于那些出现神经病变的患者预后较差。治疗方案借鉴了多发性骨髓瘤的方案,以使用硼替佐米、环磷酰胺和地塞米松消除产生淀粉样蛋白的克隆细胞为中心,尽管使用达雷妥尤单抗等新型药物的机会仍然有限。该病例强调了提高临床怀疑意识、多学科协作以及改善诊断基础设施的必要性,以优化菲律宾及类似环境中AL淀粉样变性患者的治疗效果。