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Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy

2021Journal article Open access
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dc.contributor.authorAdams, David
dc.contributor.authorAndo, Yukio
dc.contributor.authorBeirão, João
dc.contributor.authorCoelho, Teresa
dc.contributor.authorGertz, Morie A.
dc.contributor.authorGillmore, Julian D.
dc.contributor.authorHawkins, Philip N.
dc.contributor.authorLousada, Isabelle
dc.contributor.authorSuhr, Ole B.
dc.contributor.authorMerlini, Giampaolo
dc.date.accessioned2022-11-08T15:25:36Z
dc.date.available2022-11-08T15:25:36Z
dc.date.issued2021
dc.description.abstractAmyloid transthyretin (ATTR) amyloidosis with polyneuropathy (PN) is a progressive, debilitating, systemic disease wherein transthyretin protein misfolds to form amyloid, which is deposited in the endoneurium. ATTR amyloidosis with PN is the most serious hereditary polyneuropathy of adult onset. It arises from a hereditary mutation in the TTR gene and may involve the heart as well as other organs. It is critical to identify and diagnose the disease earlier because treatments are available to help slow the progression of neuropathy. Early diagnosis is complicated, however, because presentation may vary and family history is not always known. Symptoms may be mistakenly attributed to other diseases such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), idiopathic axonal polyneuropathy, lumbar spinal stenosis, and, more rarely, diabetic neuropathy and AL amyloidosis. In endemic countries (e.g., Portugal, Japan, Sweden, Brazil), ATTR amyloidosis with PN should be suspected in any patient who has length-dependent small-fiber PN with autonomic dysfunction and a family history of ATTR amyloidosis, unexplained weight loss, heart rhythm disorders, vitreous opacities, or renal abnormalities. In nonendemic countries, the disease may present as idiopathic rapidly progressive sensory motor axonal neuropathy or atypical CIDP with any of the above symptoms or with bilateral carpal tunnel syndrome, gait disorders, or cardiac hypertrophy. Diagnosis should include DNA testing, biopsy, and amyloid typing. Patients should be followed up every 6-12 months, depending on the severity of the disease and response to therapy. This review outlines detailed recommendations to improve the diagnosis of ATTR amyloidosis with PN.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAdams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2021;268(6):2109-2122. doi:10.1007/s00415-019-09688-0pt_PT
dc.identifier.doi10.1007/s00415-019-09688-0pt_PT
dc.identifier.issn0340-5354
dc.identifier.issn1432-1459
dc.identifier.urihttp://hdl.handle.net/10400.16/2740
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer-Verlagpt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007/s00415-019-09688-0pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectATTR amyloidosispt_PT
dc.subjectATTRvpt_PT
dc.subjectDiagnosispt_PT
dc.subjectPeripheral neuropathypt_PT
dc.subjectTransthyretin amyloidosispt_PT
dc.subjecthATTRpt_PT
dc.titleExpert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceBerlinpt_PT
oaire.citation.endPage2122pt_PT
oaire.citation.issue6pt_PT
oaire.citation.startPage2109pt_PT
oaire.citation.titleJournal of Neurologypt_PT
oaire.citation.volume268pt_PT
person.familyNameBeirão
person.familyNameCoelho
person.givenNameJoão Nuno Melo
person.givenNameTeresa
person.identifier.ciencia-id0214-5233-EE9D
person.identifier.ciencia-idC71E-3343-F445
person.identifier.orcid0000-0001-8642-7010
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication03b98348-ce82-4043-bb58-db089fcc21d6
relation.isAuthorOfPublicationca69c0a3-d48a-4b92-bbf7-c17288d609b7
relation.isAuthorOfPublication.latestForDiscoveryca69c0a3-d48a-4b92-bbf7-c17288d609b7

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