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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Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report.
Kate Muller,Robert Padbury,Gary P. Jeffrey,Nicola K. Poplawski,Philip D. Thompson,Anne L. Tonkin,Hugh Harley +6 more
TL;DR: This work describes the cases of 2 siblings with transthyretin amyloid polyneuropathy secondary to an infrequently reported tran StHyretin mutation (Ala36Pro) who underwent liver transplantation with poor outcomes.
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Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis
Kyomin Choi,Jin Myoung Seok,Byoung Joon Kim,Young Cheol Choi,Ha Young Shin,Il Nam Sunwoo,Dae Seong Kim,Jung-Joon Sung,Ga Yeon Lee,Eun Seok Jeon,Nam Hee Kim,Ju Hong Min,Jeeyoung Oh +12 more
TL;DR: The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.
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Endoscopic Findings of Small-Bowel Lesions in Familial Amyloid Polyneuropathy: A Case Report
Kensuke Asakura,Shunichi Yanai,Shotaro Nakamura,Keisuke Kawaski,Makoto Eizuka,Kazuyuki Ishida,Tamotsu Sugai,Mitsuharu Ueda,Taro Yamashita,Yukio Ando,Takayuki Matsumoto +10 more
TL;DR: A 71-year-old woman complaining of refractory diarrhea for 1 year and analysis of the genomic DNA showed a heterozygous Gly47Val mutation in the transthyretin gene, a diagnosis of FAP was established.
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Doxycycline in ATTRY69H (p.ATTRY89H) amyloidosis with predominant leptomeningeal manifestation
Jan C. Purrucker,Ernst Hund,Katrin Hinderhofer,Jennifer Kollmer,Stefan Schönland,Ute Hegenbart +5 more
TL;DR: In this patient, both the cognitive function and unsteadiness in walking improved notably in the very first months following the start of doxycycline treatment, already leading to safe and unaided walking for most of the time.
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.
Journal ArticleDOI
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.
Journal ArticleDOI
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.
Journal ArticleDOI
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.