Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 658-660 |
| Number of pages | 3 |
| Journal | Neuromuscular Disorders |
| Volume | 25 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 1 Jan 2015 |
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A sporadic case of late-onset familial amyloid polyneuropathy with a monoclonal gammopathy. / Medeiros, Elmira ; Mendonça, Marcelo ; Correia, Ana Sofia.
In: Neuromuscular Disorders, Vol. 25, No. 8, 01.01.2015, p. 658-660.Research output: Contribution to journal › Article
TY - JOUR
T1 - A sporadic case of late-onset familial amyloid polyneuropathy with a monoclonal gammopathy
AU - Medeiros, Elmira
AU - Mendonça, Marcelo
AU - Correia, Ana Sofia
N1 - PMID: 26055637 WOS:000357765200008
PY - 2015/1/1
Y1 - 2015/1/1
N2 - A 77-year-old Portuguese woman reported gradual worsening of burning and numbness in the feet and hands, fatigue, anorexia, weight loss, diarrhoea and decreased visual acuity. She had a medical history of atrial fibrillation and recent episodes of dizziness and blood pressure fluctuations. There was no relevant family history. The diagnostic workup documented a severe axonal sensorimotor peripheral neuropathy, a monoclonal IgG kappa protein on serum, a severe left ventricular hypertrophy on the echocardiogram and probable vitreous deposits of amyloid on ophthalmologic examination. Pain and dysautonomia with an axonal neuropathy and multisystemic involvement raised the possibility of amyloidosis. The presence of a detectable monoclonal protein, older age at disease onset and absence of family history of disease usually suggest immunoglobulin light-chain amyloidosis. However, in this case, both the genetic testing and the biopsy of the salivary glands confirmed transthyretin amyloidosis. In those patients with a monoclonal protein, particularly in sporadic and late-onset cases, the diagnosis of transthyretin amyloidosis can be challenging, mimicking immunoglobulin light-chain amyloidosis. (C) 2015 Elsevier B.V. All rights reserved.
AB - A 77-year-old Portuguese woman reported gradual worsening of burning and numbness in the feet and hands, fatigue, anorexia, weight loss, diarrhoea and decreased visual acuity. She had a medical history of atrial fibrillation and recent episodes of dizziness and blood pressure fluctuations. There was no relevant family history. The diagnostic workup documented a severe axonal sensorimotor peripheral neuropathy, a monoclonal IgG kappa protein on serum, a severe left ventricular hypertrophy on the echocardiogram and probable vitreous deposits of amyloid on ophthalmologic examination. Pain and dysautonomia with an axonal neuropathy and multisystemic involvement raised the possibility of amyloidosis. The presence of a detectable monoclonal protein, older age at disease onset and absence of family history of disease usually suggest immunoglobulin light-chain amyloidosis. However, in this case, both the genetic testing and the biopsy of the salivary glands confirmed transthyretin amyloidosis. In those patients with a monoclonal protein, particularly in sporadic and late-onset cases, the diagnosis of transthyretin amyloidosis can be challenging, mimicking immunoglobulin light-chain amyloidosis. (C) 2015 Elsevier B.V. All rights reserved.
KW - Amyloidosis
KW - Transthyretin
KW - Val30Met TTR-FAP
KW - SALIVARY-GLAND BIOPSY
KW - Familial amyloid polyneuropathy
KW - Monoclonal gammopathy
KW - DIAGNOSIS
U2 - 10.1016/j.nmd.2015.05.007
DO - 10.1016/j.nmd.2015.05.007
M3 - Article
VL - 25
SP - 658
EP - 660
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 8
ER -