Transthyretin familiaris amyloid polyneuropathy - harom magyarorszagi eset ritka mutaciokkal (His88Arg ES Phe33Leu)

Translated title of the contribution: Transthyretin familial amyloid polyneuropathy - Three hungarian cases with rare mutations (His88arg And Phe33leu)

Csillik Anita, Pozsonyi Zoltan, Soos Krisziina, I. Balogh, Bodo Imre, Z. Arányi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Introduction - Transthyretin familial amyloid polyneuropathy is a rare autosomal dominant progressive systemic disesase of adults caused by endoneural amyloid deposition due to point mutations of the transthyretin gene. It is the most severe form among hereditary polyneuropathies, being fatal within 10 years if left untreated. The disease is underdiagnosed, the late onset forms (above the age of 50) being probably more widespread than previously thought. Early diagnosis is essential as the early introduction of causal therapy (tafamidis) slows progression and prolongs survival. Patients - We report here three non-related Hungarian cases of transthyretin familial amyloid polyneuropathy with non- Val30Met mutations (His88Arg in two cases, Phe33Leu in one case). They were all characterized by late-onset, progressive, length-dependent, axonal, sensorimotor polyneuropathy and the simultaneous presentation of severe restrictive cardiomyopathy. In all three cases, clinical and electrophysiological signs of myopathy were also present, suggesting the involvement of skeletal muscles as well. In two cases, high resolution ultrasound of the peripheral nerves was also performed, which showed segmental structural alterations (change or loss of fascicular structure) and some increase of echogenicity of the interfascicular epineuri- um, without substantial enlargement of the nerves. Conclusion - In Hungary, mainly the rare, non-VaI30Met mutation forms of transthyretin familial amyloid polyneuropathy are encountered, as in our cases. As opposed to the Val30Met forms, these mutations are characterized by late onset and simultaneous presentation of severe cardiomyo-pathy. Our report highlights the importance of considering transthyretin familial amyloid polyneuropathy in the differential diagnosis of late-onset, progressive, axonal polyneu ropathies of unknown etiology, particularly if associated with cardiac disease.

Original languageHungarian
Pages (from-to)245-253
Number of pages9
JournalIdeggyogyaszati Szemle
Volume69
Issue number7-8
DOIs
Publication statusPublished - Jul 30 2016

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Familial Amyloid Neuropathies
Prealbumin
Mutation
Polyneuropathies
Peripheral Nerves
Restrictive Cardiomyopathy
Hungary
Muscular Diseases
Point Mutation
Amyloid
Early Diagnosis
Heart Diseases
Skeletal Muscle
Differential Diagnosis
Survival
Genes

ASJC Scopus subject areas

  • Medicine(all)
  • Neurology
  • Clinical Neurology

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Transthyretin familiaris amyloid polyneuropathy - harom magyarorszagi eset ritka mutaciokkal (His88Arg ES Phe33Leu). / Anita, Csillik; Zoltan, Pozsonyi; Krisziina, Soos; Balogh, I.; Imre, Bodo; Arányi, Z.

In: Ideggyogyaszati Szemle, Vol. 69, No. 7-8, 30.07.2016, p. 245-253.

Research output: Contribution to journalArticle

Anita, Csillik ; Zoltan, Pozsonyi ; Krisziina, Soos ; Balogh, I. ; Imre, Bodo ; Arányi, Z. / Transthyretin familiaris amyloid polyneuropathy - harom magyarorszagi eset ritka mutaciokkal (His88Arg ES Phe33Leu). In: Ideggyogyaszati Szemle. 2016 ; Vol. 69, No. 7-8. pp. 245-253.
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AU - Zoltan, Pozsonyi

AU - Krisziina, Soos

AU - Balogh, I.

AU - Imre, Bodo

AU - Arányi, Z.

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AB - Introduction - Transthyretin familial amyloid polyneuropathy is a rare autosomal dominant progressive systemic disesase of adults caused by endoneural amyloid deposition due to point mutations of the transthyretin gene. It is the most severe form among hereditary polyneuropathies, being fatal within 10 years if left untreated. The disease is underdiagnosed, the late onset forms (above the age of 50) being probably more widespread than previously thought. Early diagnosis is essential as the early introduction of causal therapy (tafamidis) slows progression and prolongs survival. Patients - We report here three non-related Hungarian cases of transthyretin familial amyloid polyneuropathy with non- Val30Met mutations (His88Arg in two cases, Phe33Leu in one case). They were all characterized by late-onset, progressive, length-dependent, axonal, sensorimotor polyneuropathy and the simultaneous presentation of severe restrictive cardiomyopathy. In all three cases, clinical and electrophysiological signs of myopathy were also present, suggesting the involvement of skeletal muscles as well. In two cases, high resolution ultrasound of the peripheral nerves was also performed, which showed segmental structural alterations (change or loss of fascicular structure) and some increase of echogenicity of the interfascicular epineuri- um, without substantial enlargement of the nerves. Conclusion - In Hungary, mainly the rare, non-VaI30Met mutation forms of transthyretin familial amyloid polyneuropathy are encountered, as in our cases. As opposed to the Val30Met forms, these mutations are characterized by late onset and simultaneous presentation of severe cardiomyo-pathy. Our report highlights the importance of considering transthyretin familial amyloid polyneuropathy in the differential diagnosis of late-onset, progressive, axonal polyneu ropathies of unknown etiology, particularly if associated with cardiac disease.

KW - Amyloid

KW - Highresolution ultrasound

KW - Polyneuropathy

KW - Tafamidis

KW - Transthyretin

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