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

Highlights • V122I ATTR is the commonest cause of familial amyloid cardiomyopathy. • Neuromuscular amyloidosis has not been previous described with this mutation. • Extra-cardiac involvement may reduce risk associated with tissue diagnosis. • Cardiac transplant is precluded by extra-cardiac disease....

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Published inNeuromuscular disorders : NMD Vol. 25; no. 6; pp. 511 - 515
Main Authors Carr, A.S, Pelayo-Negro, A.L, Jaunmuktane, Z, Scalco, R.S, Hutt, D, Evans, M.R.B, Heally, E, Brandner, S, Holton, J, Blake, J, Whelan, C.J, Wechalekar, A.D, Gillmore, J.D, Hawkins, P.N, Reilly, M.M
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.06.2015
Subjects
Amyloid Neuropathies, Familial - complications
Amyloid Neuropathies, Familial - pathology
Amyloid Neuropathies, Familial - physiopathology
Cardiomyopathy
Heart Diseases - complications
Heart Diseases - pathology
Heart Diseases - physiopathology
Hereditary amyloidosis
Humans
Male
Middle Aged
Muscle, Skeletal - pathology
Myocardium - pathology
Myopathy
Neurology
Neuropathy
Peripheral Nervous System Diseases - complications
Peripheral Nervous System Diseases - diagnosis
Transthyretin
NYHA
SAP
Cardiomyopathy
Hereditary amyloidosis
Transthyretin
Neuropathy
National Amyloidosis Centre
ATTR
NAC
New York Heart Association
Serum Amyloid P
Transthyretin amyloidosis
99mTc-3,3-Diphosphono-1,2-Propanodicarboxylic acid
DPD
Myopathy
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Abstract Highlights • V122I ATTR is the commonest cause of familial amyloid cardiomyopathy. • Neuromuscular amyloidosis has not been previous described with this mutation. • Extra-cardiac involvement may reduce risk associated with tissue diagnosis. • Cardiac transplant is precluded by extra-cardiac disease. • New treatments for hereditary transthyretin amyloidosis are promising.
AbstractList Highlights • V122I ATTR is the commonest cause of familial amyloid cardiomyopathy. • Neuromuscular amyloidosis has not been previous described with this mutation. • Extra-cardiac involvement may reduce risk associated with tissue diagnosis. • Cardiac transplant is precluded by extra-cardiac disease. • New treatments for hereditary transthyretin amyloidosis are promising.
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.
•V122I ATTR is the commonest cause of familial amyloid cardiomyopathy.•Neuromuscular amyloidosis has not been previous described with this mutation.•Extra-cardiac involvement may reduce risk associated with tissue diagnosis.•Cardiac transplant is precluded by extra-cardiac disease.•New treatments for hereditary transthyretin amyloidosis are promising. 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 99mTc-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.
Author Pelayo-Negro, A.L
Blake, J
Hawkins, P.N
Wechalekar, A.D
Brandner, S
Holton, J
Carr, A.S
Evans, M.R.B
Scalco, R.S
Reilly, M.M
Jaunmuktane, Z
Gillmore, J.D
Heally, E
Hutt, D
Whelan, C.J
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Issue 6
Keywords NYHA
SAP
Cardiomyopathy
Hereditary amyloidosis
Transthyretin
Neuropathy
National Amyloidosis Centre
ATTR
NAC
New York Heart Association
Serum Amyloid P
Transthyretin amyloidosis
99mTc-3,3-Diphosphono-1,2-Propanodicarboxylic acid
DPD
Myopathy
Language English
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Snippet Highlights • V122I ATTR is the commonest cause of familial amyloid cardiomyopathy. • Neuromuscular amyloidosis has not been previous described with this...
•V122I ATTR is the commonest cause of familial amyloid cardiomyopathy.•Neuromuscular amyloidosis has not been previous described with this...
Hereditary transthyretin amyloidosis (ATTR) is a genetically and clinically heterogeneous disease manifesting with predominant peripheral and autonomic...
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SubjectTerms Amyloid Neuropathies, Familial - complications
Amyloid Neuropathies, Familial - pathology
Amyloid Neuropathies, Familial - physiopathology
Cardiomyopathy
Heart Diseases - complications
Heart Diseases - pathology
Heart Diseases - physiopathology
Hereditary amyloidosis
Humans
Male
Middle Aged
Muscle, Skeletal - pathology
Myocardium - pathology
Myopathy
Neurology
Neuropathy
Peripheral Nervous System Diseases - complications
Peripheral Nervous System Diseases - diagnosis
Transthyretin
Title Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy
URI https://www.clinicalkey.es/playcontent/1-s2.0-S096089661500036X
https://dx.doi.org/10.1016/j.nmd.2015.02.001
https://www.ncbi.nlm.nih.gov/pubmed/25819286
https://search.proquest.com/docview/1683353720
Volume 25
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