PDF(Pubmed)
Abstract：
We encountered a man in his 60s presenting with worsening macroglossia. The patient underwent extensive otolaryngology evaluation and was diagnosed with primary (AL) amyloidosis on tongue biopsy with Congo red stain. The patient then underwent a bone marrow biopsy and was also found to have concurrent multiple myeloma. He started induction therapy with daratumumab and CyBorD (cyclophosphamide, bortezomib, dexamethasone). Cardiac MRI revealed extensive cardiac amyloidosis and the patient was deemed high risk for autologous stem cell transplant (auto-HCT). Unfortunately, the patient underwent hospitalisation for heart failure exacerbation requiring extensive medical management and passed away as a result of this pathology. AL amyloidosis is a rare disease to begin with and macroglossia as the only presenting sign is notable. This case emphasises the importance of considering AL amyloidosis in patients presenting with similar complaints as macroglossia can be attributed to other less serious aetiologies.
摘要：
我们遇到一个60多岁的人，表现出严重的巨舌症。患者接受了广泛的耳鼻咽喉科评估，并在舌活检中诊断为原发性（AL）淀粉样变性。刚果红染色。然后，患者接受了骨髓活检，并发现并发多发性骨髓瘤。他开始使用达雷妥单抗和CyBorD（环磷酰胺，硼替佐米,地塞米松）。心脏MRI显示广泛的心脏淀粉样变性，患者被认为是自体干细胞移植（auto-HCT）的高风险。不幸的是,患者因心力衰竭恶化而住院，需要广泛的医疗管理，并因这种病理而去世。AL淀粉样变性是一种罕见的疾病，以巨舌症作为唯一的表现是值得注意的。此病例强调了在出现类似症状的患者中考虑AL淀粉样变性的重要性，因为巨舌可归因于其他不太严重的病因。
