First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

Adams, David; Suhr, Ole B.; Hund, Ernst; Obici, Laura; Tournev, Ivailo; Campistol, Josep M.; Slama, Michel; Hazenberg, Bouke P. C.; Coelho, Teresa

doi:10.1097/wco.0000000000000289

Cited by 203 publications

(261 citation statements)

References 66 publications

(108 reference statements)

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“…Contudo, não se conhecem estudos neste tópico, no âmbito da paramiloidose, uma doença hereditária de início tardio, que se manifesta na idade adulta (por norma, antes dos 40 anos) 13 . Essa doença foi descrita pela primeira vez em 1952 14 e tem o foco de maior prevalência em Portugal, na zona costeira do norte do país.…”

Section: Introductionunclassified

“…É uma doença monogênica para a qual existem testes pré-sintomáticos (TPS) desde 1985 16 que predizem se pessoas assintomáticas, em famílias com histórico de paramiloidose, são portadoras da mutação patogênica e virão a manifestar a doença no futuro. Atualmente a doença é incurável, e as opções de tratamento disponíveis (transplante hepático, desde 1992, ou medicação, desde 2012) apenas retardam a sua evolução 13 . O TPS é um processo complexo com implicações psicossociais a nível individual e familiar 17,18 .…”

Section: Introductionunclassified

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Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos

2017

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Resumo: Atualmente os cidadãos são parceiros dos sistemas formais na promoção da saúde. Na gestão das doenças hereditárias, o papel dos familiares como fonte de suporte é vital. O papel dos mais velhos emerge como crucial pela longa relação com a doença e com os doentes na família. Contudo, esse papel permanece pouco explorado, em particular, em doenças genéticas, como a paramiloidose. Este estudo qualitativo exploratório analisa o papel dos mais velhos, em famílias com paramiloidose, na promoção da saúde dos mais novos. Adotou-se a técnica dos incidentes críticos, aplicada por entrevista semiestruturada. O estudo envolve 18 participantes que relataram 76 incidentes críticos. As entrevistas foram gravadas e submetidas a análise de conteúdo. Os principais resultados sugerem os seguintes papéis dos mais velhos junto dos mais novos: modelar (comportamentos), encorajar, informar e apoiar. As gerações mais velhas podem ser envolvidas pelos profissionais de saúde como parceiras no apoio aos mais novos em famílias com paramiloidose.

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Section: Introductionunclassified

Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos

2017

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“…В отсутствии этиопатогенетических подходов при изолированном поражении сердца амилоидозом единственным методом лечения является симптома-тическая терапия (диуретики, установка электрокар-диостимулятора, кардиовертера-дефибриллятора) и трансплантация сердца-печени [15]. Вместе с тем, в настоящее время антисмысловые олигонуклеотиды проходят клиническую проверку.…”

Section: вовunclassified

Non-Val30met-Transthyretin Amyloid Cardiomyopathy. Literature Review and Clinical Case

Гудкова¹,

Полякова²,

Амелин³

et al. 2018

Russ J Cardiol

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Амилоидоз сердца -это отложение во внеклеточ-ном матриксе аномального фибриллярного белка (амилоида) вследствие генетических и негенетиче-ских форм системного и локального амилоидоза. В последнее десятилетие 21 века стало понятно, что системные и локальные формы амилоидоза не явля-ются редкими заболеваниями. Диагностика амилоид-ной кардиомиопатии является одной из основных проблем, с которой сталкиваются врачи при лечении пациентов с прогрессирующей сердечной недоста-точностью, ассоциированной с фенокопиями кардио-миопатий (КМП), в первую очередь гипертрофиче-ской кардиомиопатии (ГКМП) и рестриктивной КМП. Это справедливо для поражения сердца при системном AL-амилоидозе, семейных и спорадиче-ских случаях генетически обусловленного транстире-тинового амилоидоза (АТТР) мутантного (mt) типа, а также вследствие конформационных изменений молекулы белка нормального, "дикого" (wt) трансти-ретина при старении пациентов [1]. Нестабильность тетрамера транстиретина (ТТР), вызванная мутаци-ями и/или связанная с возрастом, приводит к диссо-циации тетрамера ТТР на мономеры и на моно-меры + С-концевые фрагменты, что вызывает непра-вильный фолдинг и агрегацию вариантных мономеров ТТР с образованием токсичных амилои-догенных промежуточных продуктов и амилоидных фибрилл [2,3].Наиболее часто наследственная транстиретиновая амилоидная кардиомиопатия (АТТР-КМП) встреча-

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“…Early diagnosis is crucial for initiation of diseasemodifying therapies 81 , and a study published in 2015 suggests that high-resolution 3T MRN can be used to help with early diagnosis 82 . In this study, MRN was used to identify and quantify the distribution of peripheral nerve injury within the fascicles throughout the length of the sciatic nerves in people with TTR-FAP, and revealed abnormalities even in asymptomatic carriers of the causative gene.…”

Section: Inflammatory and Inherited Neuropathiesmentioning

confidence: 99%

New technologies for the assessment of neuropathies

et al. 2017

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Peripheral neuropathies are among the most common neurological disorders 1 . In routine clinical practice, diagnosis of peripheral neuropathies is typically based on clinical assessment, nerve conduction studies and needle electromyography, which can determine whether symptoms are caused by primary axonal damage or demyelinating damage. This distinction is often relevant to therapeutic choices and to prognosis, as axonal damage typically reflects an inflammatory (for example, vasculitic) or degenerative (for example, hereditary or idiopathic) process that correlates with disability, whereas demyelinating damage can reflect a hereditary neuro pathy, but more often reflects an acquired immunemediated neuropathy. Besides metabolic, inflammatory or primary degenerative neuropathies, peripheral nerves can also be damaged by compression from adjacent tissue structures, such as tendons, cysts or haematomas. In this case, proper identification of the site, nature and degree of the lesion might be challenging, but is relevant to treatment and prognosis. Moreover, some patients present with symptoms that suggest damage to small nerve fibres, which nerve conduction studies cannot be used to detect.In the past 15 years, several techniques have become available to investigate focal and diffuse peripheral neuropathies, and their reliability has widened the spectrum of diagnostic tools for clinicians and improved assessment of neuropathies. In this Review, we provide an overview of these new and emerging technologies. We first discuss peripheral nerve imaging with MRI and ultrasonography, which can provide information about the precise localization of neuro pathies and the pathological processes involved in large-fibre neuropathies, and can complement clinical and electrophysiological evaluation. We then consider techniques that can provide diagnostic information when the pathological process is restricted to small nerve fibres and is consequently not detectable with nerve conduction studies or neuroimaging. These include skin biopsy, which is established in clinical practice, and the emerging techniques of corneal confocal microscopy, laser-evoked potentials and heat-related and pain-related evoked potentials, and microneurography.Nerve imaging technology Advances in imaging techniques have made it possible to gain great insight into nerve pathology with magnetic resonance and ultrasound. Each approach offers distinct advantages, and can provide different information about damage to large myelinated fibres. Abstract | Technical advances are rapidly changing the clinical and instrumental approach to peripheral nerve diseases. Magnetic resonance neurography, diffusion tensor imaging and nerve ultrasonography are increasingly entering the diagnostic workup of peripheral neuropathies as tools that complement neurophysiology and enable investigation of proximal structures, such as plexuses and roots. Progress in the design of magnetic resonance scanners and sequences, and the development of high-frequency ultrasound probes mean th...

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First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

Cited by 203 publications

References 66 publications

Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos

Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos

Non-Val30met-Transthyretin Amyloid Cardiomyopathy. Literature Review and Clinical Case

New technologies for the assessment of neuropathies

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