Volume 10 Supplement 1

First European Congress on Hereditary ATTR amyloidosis

Meeting abstracts

Publication of this supplement was funded by the First European Congress on Hereditary ATTR amyloidosis.

First European Congress on Hereditary ATTR amyloidosis.

Paris, France2-3 November 2015

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Spotting senile systemic amyloidosis: why we miss it

Authors: Marianna Fontana, Cristina C Quarta, Janet Gilbertson, Thirusha Lane, Carol J Whelan, Julian D Gillmore, Philip N Hawkins and James C Moon

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P51

Content type: Poster presentation Published on: 2 November 2015
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Parenteral nutrition improves nutritional status, autonomic symptoms and QoL in patients with TTR-FAP

Authors: Massimo Russo, Gianluca Vita, Claudia Stancanelli, Giuseppe Vita, Anna Mazzeo and Sonia Messina

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P52

Content type: Poster presentation Published on: 2 November 2015
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Mass spectrometry analysis of transthyretin (TTR) post-translational modifications (PTMs) in hereditary ATTR: a case-control Spanish experience

Authors: Marta Vilà-Rico, Sebastián Azorín Contesse, José E Barcena Llona, Ricardo Rojas-García, Fernando Martínez Valle, Antoni Planas, Francesc Canals and Josep M Campistol

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P53

Content type: Poster presentation Published on: 2 November 2015
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Cardiac involvement and clinical follow up of patients with hereditary transthyretin related amyloidosis associated with Glu89Gln mutation

Authors: Mariana Gospodinova, Stayko Sarafov, Velina Guergueltcheva, Andrey Kirov, Teodora Chamova, Albena Todorova, Ivailo Tournev and Stefan Denchev

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P54

Content type: Poster presentation Published on: 2 November 2015
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Identification of a new variant of TTR involved in familial amyloid cardiomyopathy (FAC) in Brazil: from the patient to the protein

Authors: Priscila Ferreira, Carolina Andrade, Ricardo Santanna, Natalia Varejão, Salvado Ventura, Fernando Palhano, Marcia Cruz and Debora Foguel

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P55

Content type: Poster presentation Published on: 2 November 2015
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Life paths of familial amiloidotic polyneuropathy patients: a descriptive study

Authors: Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Paula Freitas and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P56

Content type: Poster presentation Published on: 2 November 2015
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Axon reflex-mediated vasodilation is reduced in proportion to disease severity in familial amyloid polyneuropathy

Authors: Thierry Kuntzer, Irène Calero-Romero, Bernard Waeber and Francois Feihl

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P57

Content type: Poster presentation Published on: 2 November 2015
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Patients with hereditary ATTR amyloidosis experience an increasing burden of illness as the disease progresses

Authors: David Adams, Oved Amitay and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P58

Content type: Poster presentation Published on: 2 November 2015
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Cardiomyopathy and peripheral polyneuropathy severity in patients with Glu89Gln mutation at the time of diagnosis

Authors: Mariana Gospodinova, Stayko Sarafov, Velina Guergueltcheva, Andrey Kirov, Teodora Chamova, Albena Todorova, Ivailo Tournev and Stefan Denchev

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P59

Content type: Poster presentation Published on: 2 November 2015
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Comparison and identification of early clinical, biological and echocardiographic prognostic markers in cardiac amyloidosis

Authors: Thibaud Damy, Arnaud Jaccard, Aziz Guellich, David Lavergne, François Deux Jean, Jehan Dupuis, Valérie Frenkel and Dania Mohty

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P60

Content type: Poster presentation Published on: 2 November 2015
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Retinal and choroidal vascular abnormalities in TTR-FAP

Authors: Antoine Rousseau, Emmanuel Barreau, Céline Terrada, Lydie Bonin, Pierre-Raphaêl Rothschild, Marie Théaudin, David Adams and Marc Labetoulle

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P61

Content type: Poster presentation Published on: 2 November 2015
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Is 99mTc-diphosphonate uptake the earliest sign of cardiac amyloidosis development in asymptomatic Glu89Gln transthyretin gene mutation carriers?

Authors: Fabio Minutoli, Anna Mazzeo, Gianluca Di Bella, Giuseppe Vita and Sergio Baldari

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P62

Content type: Poster presentation Published on: 2 November 2015
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Specific ophtalmologic changes in late onset familial amyloid polyneuropathy (FAP) portuguese patients

Authors: Natalia Ferreira, David Dias and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P63

Content type: Poster presentation Published on: 2 November 2015
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Specific ocular changes in TTR Met30-FAP after liver transplantation

Authors: Natalia Ferreira, David Dias, Carmen Vilas-Boas, Isabel Fonseca and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P64

Content type: Poster presentation Published on: 2 November 2015
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Management of stage 1 TTR FAP: French experience

Authors: David Adams, Marie Théaudin, Pierre Lozeron, Clovis Adam, Guillemette Beaudonnet, Céline Labeyrie, Catherine Lacroix and Cécile Cauquil

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P65

Content type: Poster presentation Published on: 2 November 2015
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The rehabilitation in the management of Transthyretin Familial Amyloid Polyneuropathy

Authors: Agnès Morier, Alyssa De Sousa, Colombe Lemoine, Cecile Cauquil, Marie Théaudin, David Adams and Hervé Chanut

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P66

Content type: Poster presentation Published on: 2 November 2015
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First European Congress on Hereditary ATTR amyloidosis

Meeting abstracts

Spotting senile systemic amyloidosis: why we miss it

Parenteral nutrition improves nutritional status, autonomic symptoms and QoL in patients with TTR-FAP

Mass spectrometry analysis of transthyretin (TTR) post-translational modifications (PTMs) in hereditary ATTR: a case-control Spanish experience

Cardiac involvement and clinical follow up of patients with hereditary transthyretin related amyloidosis associated with Glu89Gln mutation

Identification of a new variant of TTR involved in familial amyloid cardiomyopathy (FAC) in Brazil: from the patient to the protein

Life paths of familial amiloidotic polyneuropathy patients: a descriptive study

Axon reflex-mediated vasodilation is reduced in proportion to disease severity in familial amyloid polyneuropathy

Patients with hereditary ATTR amyloidosis experience an increasing burden of illness as the disease progresses

Cardiomyopathy and peripheral polyneuropathy severity in patients with Glu89Gln mutation at the time of diagnosis

Comparison and identification of early clinical, biological and echocardiographic prognostic markers in cardiac amyloidosis

Retinal and choroidal vascular abnormalities in TTR-FAP

Is 99mTc-diphosphonate uptake the earliest sign of cardiac amyloidosis development in asymptomatic Glu89Gln transthyretin gene mutation carriers?

Specific ophtalmologic changes in late onset familial amyloid polyneuropathy (FAP) portuguese patients

Specific ocular changes in TTR Met30-FAP after liver transplantation

Management of stage 1 TTR FAP: French experience

The rehabilitation in the management of Transthyretin Familial Amyloid Polyneuropathy

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