A sporadic case of late-onset familial amyloid polyneuropathy with a monoclonal gammopathy

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)658-660
Number of pages3
JournalNeuromuscular Disorders
Volume25
Issue number8
DOIs
Publication statusPublished - 1 Jan 2015

Fingerprint

Familial Amyloid Neuropathies
Paraproteinemias
Amyloidosis
Immunoglobulin Light Chains
Primary Dysautonomias
Hypesthesia
Amyloid Plaques
Genetic Testing
Anorexia
Dizziness
Left Ventricular Hypertrophy
Peripheral Nervous System Diseases
Salivary Glands
Age of Onset
Atrial Fibrillation
Visual Acuity
Fatigue
Foot
Blood Proteins
Weight Loss

Keywords

    Cite this

    @article{52b71df2391a44a9961de932cf43bd60,
    title = "A sporadic case of late-onset familial amyloid polyneuropathy with a monoclonal gammopathy",
    abstract = "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.",
    keywords = "Amyloidosis, Transthyretin, Val30Met TTR-FAP, SALIVARY-GLAND BIOPSY, Familial amyloid polyneuropathy, Monoclonal gammopathy, DIAGNOSIS",
    author = "Elmira Medeiros and Marcelo Mendon{\cc}a and Ana Sofia Correia",
    note = "PMID: 26055637 WOS:000357765200008",
    year = "2015",
    month = "1",
    day = "1",
    doi = "10.1016/j.nmd.2015.05.007",
    language = "English",
    volume = "25",
    pages = "658--660",
    journal = "Neuromuscular Disorders",
    issn = "0960-8966",
    publisher = "Elsevier Science B.V., Amsterdam.",
    number = "8",

    }

    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 -