Andrei Irina Adriana, Kuntzer Thierry, Lobrinus Johannes Alexander, Jaccard Arnaud, Zufferey Pascal
Service de Rhumatologie/DAL, CHUV, Av. Pierre Decker 4, 1011, Lausanne, Switzerland.
Service de Neurologie/DNC, CHUV, Rue du Bugnon 46, 1011, Lausanne, Switzerland.
Clin Rheumatol. 2016 Feb;35(2):535-9. doi: 10.1007/s10067-014-2782-0. Epub 2014 Sep 18.
The aims of this review were to describe the case of a patient with debilitating neuroarthropathy of the ankles and feet and reveal a primary systemic (amyloid light chain, AL) amyloidosis and to review the relevant literature concerning the peripheral neuropathy and neuroarthropathy due to amyloidosis. We will emphasize the diagnostic pitfalls and discuss prognosis and treatments of both the peripheral neuropathy and the arthropathy related to AL amyloidosis. This is a descriptive case report of a patient with neuroarthropathy of the lower limbs due to AL amyloidosis. A review and discussion of relevant literature were conducted, based on a PubMed search from 1973 to December 2013. A 51-year-old female was diagnosed with AL amyloidosis after 20 months of investigation of small painful deformities of the feet. Chronic peripheral neuropathy occurs as a manifestation of AL amyloidosis in 25 % of cases. It may exceptionally be complicated by neuroarthropathy. In this case, the paucity of clinical and electrophysiological signs of the neuropathy delayed the diagnosis, leading to a severe arthropathy. The massive destruction of the joints dominated the clinical and the poor functional outcome. Diagnosis of AL amyloidosis should be considered in the presence of a mild peripheral neuropathy and a distal destructive and painless arthropathy. The two key diagnostic procedures are serum protein electrophoresis and nerve biopsy. Delay in treatment worsens the prognosis.
本综述的目的是描述一例患有使人衰弱的踝足部神经关节病的患者病例，揭示原发性系统性（轻链型，AL）淀粉样变性，并回顾有关淀粉样变性所致周围神经病变和神经关节病的相关文献。我们将强调诊断中的陷阱，并讨论与AL淀粉样变性相关的周围神经病变和关节病的预后及治疗。这是一例因AL淀粉样变性导致下肢神经关节病患者的描述性病例报告。基于对1973年至2013年12月PubMed的检索，对相关文献进行了综述和讨论。一名51岁女性在足部出现小的疼痛性畸形并经过20个月的检查后被诊断为AL淀粉样变性。慢性周围神经病变在25%的AL淀粉样变性病例中作为一种表现出现。它可能罕见地并发神经关节病。在该病例中，神经病变的临床和电生理体征缺乏延迟了诊断，导致严重的关节病。关节的大量破坏主导了临床症状且功能预后较差。在存在轻度周围神经病变以及远端破坏性无痛性关节病的情况下，应考虑诊断AL淀粉样变性。两项关键的诊断程序是血清蛋白电泳和神经活检。治疗延迟会使预后恶化。
