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

作者: A.S. Carr , A.L. Pelayo-Negro , Z. Jaunmuktane , R.S. Scalco , D. Hutt

DOI: 10.1016/J.NMD.2015.02.001

关键词:

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

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