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- amyloid polyneuropathy
- chronic inflammatory demyelinating polyradiculoneuropathy
- peripheral neuropathy
Hereditary transthyretin (ATTR) amyloidosis is a debilitating highly penetrant autosomal dominant disease leading to motor disability within 5 years and generally fatal within a decade without treatment.
In Italy, hereditary ATTR amyloidosis shows broad genetic and phenotypic variability.1 Peripheral nerve damage can be isolated, in the absence of cardiac and autonomic involvement. Such a presentation makes it often difficult to distinguish ATTR amyloidosis-related peripheral neuropathy from other acquired peripheral neuropathies of adulthood.
Nowadays, avoiding misdiagnosis of ATTR amyloidosis is of vital importance because diverse treatment options are available, including liver transplantation and anti-amyloidogenic therapies with tafamidis or diflunisal, which all appear to be particularly effective in early disease stages.
In this study, we aimed to assess frequency, type and causes of misdiagnosis of ATTR amyloidosis in Italy.
We reviewed the medical records of 150 patients with ATTR diagnosed at the Amyloid Research and Treatment Centre between 1999 and 2013. Hundred-four (73%) were male with an average age of onset of 61 years (31–86). Most frequent mutations were Val30Met (p.Val50Met) (39; 26%), Glu89Gln (p.Glu109Gln) (28; 19%), Phe64Leu (p.Phe84Leu) (20; 13%), Ile68Leu (p.Ile88Leu) (14; 9%), Thr49Ala (p.Thr69Ala)(2; 5%). We reviewed electrodiagnostic (EDx) studies of 19 patients misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and we assessed fulfilment of European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) EDx criteria for demyelination. We excluded from the analysis distal motor latency prolongation and distal compound motor action potential (CMAP) duration in the median nerve because of frequent median neuropathy at the …
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