Format

Send to

Choose Destination
See comment in PubMed Commons below
Neuromuscul Disord. 2015 Jun;25(6):511-5. doi: 10.1016/j.nmd.2015.02.001. Epub 2015 Feb 14.

Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy.

Author information

1
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital of Neurology and Neurosurgery, Queen Square, London, UK. Electronic address: Aisling.carr@uclh.nhs.uk.
2
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital of Neurology and Neurosurgery, Queen Square, London, UK; University Hospital "Marqués de Valdecilla", Department of Neurology, Santander, Spain.
3
Division of Neuropathology, UCL Institute of Neurology and National Hospital of Neurology and Neurosurgery, Queen Square, London, UK.
4
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital of Neurology and Neurosurgery, Queen Square, London, UK; Division of Neuropathology, UCL Institute of Neurology and National Hospital of Neurology and Neurosurgery, Queen Square, London, UK.
5
National Amyloidosis Centre, Royal Free Hospital, Rowland Hill Street, London NW3 2PF, UK.
6
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital of Neurology and Neurosurgery, Queen Square, London, UK.
7
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital of Neurology and Neurosurgery, Queen Square, London, UK; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.

Abstract

Hereditary transthyretin amyloidosis (ATTR) is a genetically and clinically heterogeneous disease manifesting with predominant peripheral and autonomic neuropathy; cardiomyopathy, or both. ATTR V122I is the most common variant associated with non-neuropathic familial amyloid cardiomyopathy. We present an unusual case of V122I amyloidosis with features of amyloid neuropathy and myopathy, supported by histological confirmation in both sites and diffuse tracer uptake on (99m)Tc-3,3-Diphosphono-1,2-Propanodicarboxylic acid (DPD) scintigraphy throughout skeletal and cardiac muscle. A 64 year old Jamaican man presented with cardiac failure. Cardiac MR revealed infiltrative cardiomyopathy; abdominal fat aspirate confirmed the presence of amyloid, and he was homozygous for the V122I variant of transthyretin. He also described general weakness and EMG demonstrated myopathic features. Sural nerve and vastus lateralis biopsy showed TTR amyloid. The patient is being treated with diflunisal, an oral TTR stabilising agent. Symptomatic myopathy and neuropathy with confirmation of tissue amyloid deposition has not previously been described. Extracardiac amyloidosis has implications for diagnosis and treatment.

KEYWORDS:

Cardiomyopathy; Hereditary amyloidosis; Myopathy; Neuropathy; Transthyretin

PMID:
25819286
DOI:
10.1016/j.nmd.2015.02.001
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center