S V Rajkumar1, M A Gertz, R A Kyle. 1. Division of Hematology and Internal Medicine, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
BACKGROUND: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. METHODS: 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. RESULTS: 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). CONCLUSIONS: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.
Authors: Vibhor Wadhwa; Rashmi S Thakkar; Nicholas Maragakis; Ahmet Höke; Charlotte J Sumner; Thomas E Lloyd; John A Carrino; Allan J Belzberg; Avneesh Chhabra Journal: Skeletal Radiol Date: 2012-03-13 Impact factor: 2.199
Authors: Juan J Figueroa; E Peter Bosch; P James B Dyck; Wolfgang Singer; Julie A Vrana; Jason D Theis; Ahmet Dogan; Christopher J Klein Journal: J Peripher Nerv Syst Date: 2012-06 Impact factor: 3.494
Authors: A Cortese; G Vita; M Luigetti; M Russo; G Bisogni; M Sabatelli; F Manganelli; L Santoro; T Cavallaro; G M Fabrizi; A Schenone; M Grandis; C Gemelli; A Mauro; L G Pradotto; L Gentile; C Stancanelli; A Lozza; S Perlini; G Piscosquito; D Calabrese; A Mazzeo; L Obici; D Pareyson Journal: J Neurol Date: 2016-03-16 Impact factor: 4.849