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.

AA Amyloid Deposition in the Central and Peripheral Nervous Systems in Flamingos

“…ATTR amyloidosis and AL amyloidosis are frequently accompanied by amyloid deposition in the peripheral nerve endoneurium and microvessels and causes neuropathy. 2,26 Furthermore, amyloid-ApoAI amyloidosis, 28 amyloid-gelsolin amyloidosis, 6 and amyloid-b2 microglobulin amyloidosis 30 also cause autonomic neuropathy due to amyloid deposition in the PNS. On the other hand, AA deposition in PNS is extremely rare in humans, although idiopathic cases of AA deposition in the radial nerve 21 and vestibulocochlear nerve 29 have been reported.…”