Neuroarthropathy of the foot revealing primary systemic amyloidosis: case report and literature review

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• 作者：Irina Adriana Andrei ; Thierry Kuntzer ; Johannes Alexander Lobrinus…
• 关键词：Amylosis ; Charcot arthropathy ; Diabetic foot ; MRI ; Nerve biopsy ; Neuroarthropathy
• 刊名：Clinical Rheumatology
• 出版年：2016
• 出版时间：February 2016
• 年：2016
• 卷：35
• 期：2
• 页码：535-539
• 全文大小：959 KB
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• 作者单位：Irina Adriana Andrei (1)
  Thierry Kuntzer (2)
  Johannes Alexander Lobrinus (3)
  Arnaud Jaccard (4)
  Pascal Zufferey (1)
  
  1. Service de Rhumatologie/DAL, CHUV, Av. Pierre Decker 4, 1011, Lausanne, Switzerland
  2. Service de Neurologie/DNC, CHUV, Rue du Bugnon 46, 1011, Lausanne, Switzerland
  3. Service de Pathologie Clinique, Hôpitaux Universitaires de Genève, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva 14, Switzerland
  4. Service d’ Hématologie clinique et Thérapie cellulaire/CHU, Av. Martin Luther King 2, 87042, Limoges, France
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Rheumatology
  
• 出版者：Springer London
• ISSN：1434-9949

文摘

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. Keywords Amylosis Charcot arthropathy Diabetic foot MRI Nerve biopsy Neuroarthropathy