Rajkumar S V, Gertz M A, Kyle R A
Division of Hematology and Internal Medicine, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
Am J Med. 1998 Mar;104(3):232-7. doi: 10.1016/s0002-9343(98)00037-0.
Primary systemic amyloidosis is an uncommon disorder associated with the desposition of fragments of immunoglobulin light chains in a variety of tissues. Some patients present with peripheral neuropathy. The prognosis of these patients is not clear.
We searched the medical records of all patients seen at the Mayo Clinic between January 1, 1978 and December 31, 1994 with the diagnosis of amyloidosis. Twenty-six patients with sural nerve biopsy-proven amyloid neuropathy and a documented monoclonal protein in the serum or urine were studied.
The most common symptoms that led to the diagnosis of primary amyloid neuropathy were paresthesias (81%), muscle weakness (65%), and numbness (58%). The median duration of symptoms before diagnosis was 29 months. Symptoms of autonomic neuropathy were present at diagnosis in 17 patients (65%). Other organs were involved in most patients. The monoclonal light chain protein detected was lambda in 18 patients (69%) and kappa in 8 (31%). The neuropathy was chronic, debilitating, and showed relentless progression. Twenty-two patients (85%) died (median survival 25 months) and 4 patients were alive at a median follow-up of 4.5 years. Progressive amyloidosis was the cause of death in most patients. Survival was significantly better in the patients with a serum albumin level >3 g/dL (median survival 31 months compared with 18 months; P <0.01, log-rank test).
Patients with primary systemic amyloidosis in whom neuropathy is the dominant clinical manifestation often do not receive a diagnosis until years after the onset of symptoms. The prognosis is worse than previously indicated. Neuropathy does not improve with therapy.
原发性系统性淀粉样变性是一种罕见的疾病，与免疫球蛋白轻链片段在多种组织中的沉积有关。一些患者表现为周围神经病变。这些患者的预后尚不清楚。
我们检索了1978年1月1日至1994年12月31日在梅奥诊所就诊且诊断为淀粉样变性的所有患者的病历。对26例经腓肠神经活检证实为淀粉样神经病变且血清或尿液中有记录的单克隆蛋白的患者进行了研究。
导致原发性淀粉样神经病变诊断的最常见症状是感觉异常（81%）、肌肉无力（65%）和麻木（58%）。诊断前症状的中位持续时间为29个月。17例患者（65%）在诊断时有自主神经病变症状。大多数患者的其他器官也受到累及。检测到的单克隆轻链蛋白在18例患者中为λ链（69%），在8例患者中为κ链（31%）。神经病变为慢性、致残性，且呈持续进展。22例患者（85%）死亡（中位生存期25个月），4例患者在中位随访4.5年时仍存活。进行性淀粉样变性是大多数患者的死亡原因。血清白蛋白水平>3 g/dL的患者生存期明显更长（中位生存期31个月，而其他患者为18个月；P<0.01，对数秩检验）。
以神经病变为主要临床表现的原发性系统性淀粉样变性患者，常在症状出现数年之后才得以诊断。预后比先前报道的更差。神经病变不会因治疗而改善。
