Open AccessJournal Article
Familial transthyretin amyloidosis
A P Pogromov,G M Diukova,M O Kovalchuk,I A Strokov,L T Akhmedzhanova,E V Generozov,S S Markin +6 more
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TLDR
A case of familial transthyretin amyloidosis with TTR Cys 114 gene polymorphism is described, the first in Russia and third in the world.Abstract:
A case of familial transthyretin amyloidosis with TTR Cys 114 gene polymorphism is described (first in Russia and third in the world). The clinical picture of the proband was dominated by symptoms of autonomous polyneuropathy (orthostatic hypotension, erectile dysfunction, diarrhea, tachycardia, foot dyshydrosis) and of somatic nerve lesions (dumbness, impaired surface and deep sensitivity in the limbs). The patient presented with vitreous body opacity, disturbed eye movements, lateralized sensory symptoms, and difficulty of speech (baryphonia). Electromyographic quantitative autonomous testing and measurement of evoked sympathetic skin potentials confirmed affection of peripheral nerves. Heart ultrasound revealed restrictive amyloid cardiopathy. Histological analysis showed amyloid deposition in the intestines and sural nerve. The proband, his daughter, brother (monozygous twin), and brother's daughter had mutant TTR Cys 114 gene. The brother also had amyloid deposits in the absence of clinical signs of the disease. Analysis of familial medical history demonstrated autosomal dominant inheritance of this mutation in 4 generations. Its possible origin and clinical features of the disease are discussed.read more
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Dissertation
Prevalença d'amiloïdosi de novo en receptors de fetges de donants amb polineuropatia amiloidòtica familiar
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Two deaths due to undiagnosed cerebral amyloid angiopathy and literature review
TL;DR: Although the amyloid cerebral angiopathies are a rare pathological entity and the country does not belong among endemic European areas, medical colleagues should think of the possibility of dealing with mentioned disease either in living patients or the deceased ones.
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Nasal mucosa: a new site for tissue biopsy to diagnose hereditary TTR amyloidosis.
Miguel Munar-Qués,Manel Solé,Jacinto Martínez-Nadal,Antonio Murcia-Sáiz,José Manuel Mas-Degano +4 more
TL;DR: Nasal mucosa is suggested as a suitable site for tissue biopsy in patients with suspected hereditary TTR amyloidosis and large interstitial deposits of ATTR were observed in both cases.
References
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Journal ArticleDOI
First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy
David Adams,Ole B. Suhr,Ernst Hund,Laura Obici,Ivailo Tournev,Ivailo Tournev,Josep M. Campistol,Michel Slama,Bouke P. C. Hazenberg,Teresa Coelho +9 more
TL;DR: Greater communication, not just between members of an individual patient's treatment team, but also between regional and national centres of expertise, is the key to the effective management of TTR-FAP.
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Cardiac amyloidosis: An update on diagnosis and treatment.
Joseph P. Donnelly,Mazen Hanna +1 more
TL;DR: Cardiac amyloidosis (CA), once thought to be a rare disease, is increasingly recognized due to enhanced clinical awareness and better diagnostic imaging, and reversingAmyloid deposition in affected organs using monoclonal antibodies is actively being tested in clinical trials.
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Transthyretin: a multifaceted protein.
Marta Vieira,Maria João Saraiva +1 more
TL;DR: The aim of this review is to stress the relevance of TTR, besides its well-known role on transport of thyroxine and retinol-binding protein, in the nervous system, as well as in ischemia and Alzheimer’s disease.
Journal ArticleDOI
Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm
TL;DR: A consolidated review of the ATTR-FAP Val30Met landscape in Japan is presented and findings are summarized from a medical advisory board meeting held in Tokyo on 18th August 2016, at which a Japan-specific ATTR -FAP red-flag symptom cluster and treatment algorithm was developed.
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Risk of transmission of systemic transthyretin amyloidosis after domino liver transplantation.
Laura Lladó,Carme Baliellas,Carlos Casasnovas,Isidre Ferrer,Joan Fabregat,Emilio Ramos,José Castellote,Jaume Torras,Xavier Xiol,Antoni Rafecas +9 more
TL;DR: De novo systemic amyloidosis after DLT may be more frequent and appear earlier than was initially thought and the graft shortage still justifies DLT in selected patients, despite the risk of de novo systems amyloidsosis.