title: Neuroarthropathy of the foot revealing primary systemic amyloidosis: case report and literature review.
abstract: 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.
authors.affiliation: Service de Rhumatologie/DAL, CHUV, Av. Pierre Decker 4, 1011, Lausanne, Switzerland.
authors.forename: Irina Adriana
authors.initials: IA
authors.lastname: Andrei
authors.affiliation: Service de Neurologie/DNC, CHUV, Rue du Bugnon 46, 1011, Lausanne, Switzerland.
authors.forename: Thierry
authors.initials: T
authors.lastname: Kuntzer
authors.affiliation: Service de Pathologie Clinique, Hôpitaux Universitaires de Genève, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva 14, Switzerland.
authors.forename: Johannes Alexander
authors.initials: JA
authors.lastname: Lobrinus
authors.affiliation: Service d' Hématologie clinique et Thérapie cellulaire/CHU, Av. Martin Luther King 2, 87042, Limoges, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Jaccard
authors.affiliation: Service de Rhumatologie/DAL, CHUV, Av. Pierre Decker 4, 1011, Lausanne, Switzerland. pascal.zufferey@chuv.ch.
authors.forename: Pascal
authors.initials: P
authors.lastname: Zufferey
mesh_terms: D000686:Amyloidosis / Q000150:complications / Q000175:diagnosis*; D005260:Female; D005534:Foot Diseases / Q000209:etiology*; D006801:Humans; D000075363:Immunoglobulin Light-chain Amyloidosis; D007592:Joint Diseases / Q000209:etiology*; D008875:Middle Aged; D010523:Peripheral Nervous System Diseases / Q000209:etiology*
keywords: Amylosis; Charcot arthropathy; Diabetic foot; MRI; Nerve biopsy; Neuroarthropathy