Novikov Aleksey, Holzer Horatio, DeSimone Robert A, Abu-Zeinah Ghaith, Pisapia David J, Mark Tomer M, Pastore Raymond D
Department of Internal Medicine, New York Presbyterian Hospital, Weill Cornell Medical College, New York, NY 10065-4897, USA.
Department of Pathology and Laboratory Medicine, New York Presbyterian Hospital, Weill Cornell Medical College, New York, NY 10065-4897, USA.
Case Rep Oncol Med. 2015;2015:917157. doi: 10.1155/2015/917157. Epub 2015 Oct 26.
Neuromuscular respiratory failure is a rare complication of systemic immunoglobulin light chain amyloidosis. We describe a case of a 70-year-old Caucasian man with multiple myeloma who presented with worsening dyspnea. The patient was diagnosed with and treated for congestive heart failure but continued to suffer from hypercapnic respiratory insufficiency. He had restrictive physiology on pulmonary function tests and abnormal phrenic nerve conduction studies, consistent with neuromuscular respiratory failure. The diagnosis of systemic immunoglobulin light chain amyloidosis was made based on the clinical context and a cardiac biopsy. Despite treatment attempts, the patient passed away in the intensive care unit from hypercapnic respiratory failure. Autopsy revealed dense diaphragmatic amyloid deposits without phrenic nerve infiltration or demyelination or lung parenchymal involvement. Only 5 cases of neuromuscular respiratory failure due to amyloid infiltration of the diaphragm have been described. All cases, including this, were characterized by rapid progression and high mortality. Therefore, diaphragmatic amyloidosis should be on the differential for progressive neuromuscular respiratory failure in patients with multiple myeloma or any other monoclonal gammopathy. Given its poor prognosis, early recognition of this condition is essential in order to address goals of care and encourage pursuit of palliative measures.
神经肌肉性呼吸衰竭是系统性免疫球蛋白轻链淀粉样变性的一种罕见并发症。我们描述了一例70岁患有多发性骨髓瘤的白种男性病例，该患者出现进行性呼吸困难。患者被诊断为充血性心力衰竭并接受了相应治疗，但仍患有高碳酸血症性呼吸功能不全。他的肺功能测试显示存在限制性生理改变，膈神经传导研究异常，符合神经肌肉性呼吸衰竭。基于临床情况和心脏活检，诊断为系统性免疫球蛋白轻链淀粉样变性。尽管进行了治疗尝试，患者仍在重症监护病房因高碳酸血症性呼吸衰竭去世。尸检显示膈肌有密集的淀粉样沉积物，但无膈神经浸润、脱髓鞘或肺实质受累。仅报道了5例因淀粉样物质浸润膈肌导致的神经肌肉性呼吸衰竭病例。包括本病例在内的所有病例均具有进展迅速和高死亡率的特点。因此，对于患有多发性骨髓瘤或任何其他单克隆丙种球蛋白病的患者，进行性神经肌肉性呼吸衰竭的鉴别诊断应考虑膈肌淀粉样变性。鉴于其预后不良，早期识别这种情况对于确定治疗目标和鼓励采取姑息措施至关重要。
