Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS)
ABSTRACT Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Revinter Publicações
|
| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2019000200096&lng=en&tlng=en |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850185675984338944 |
|---|---|
| author | Márcia Waddington Cruz Marcus Vinicius Pinto Luiz Felipe Pinto Renata Gervais Moisés Dias Carlos Perez Rajiv Mundayat Moh-Lim Ong Roberto Coury Pedrosa Débora Foguel |
| author_facet | Márcia Waddington Cruz Marcus Vinicius Pinto Luiz Felipe Pinto Renata Gervais Moisés Dias Carlos Perez Rajiv Mundayat Moh-Lim Ong Roberto Coury Pedrosa Débora Foguel |
| author_sort | Márcia Waddington Cruz |
| collection | DOAJ |
| description | ABSTRACT Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at onset and geographical location. This study aimed to describe baseline disease characteristics of Brazilian patients with transthyretin familial amyloid polyneuropathy (ATTR-FAP) enrolled in the Transthyretin Amyloidosis Outcome Survey (THAOS). Methods: The THAOS is an international, noninterventional, longitudinal, observational, web-based registry designed to characterize ATTR. The outcome measures included demographics (age at symptom onset, gender, time from onset of symptoms to diagnosis, family history), genotype, and clinical characteristics (presence of amyloid deposit, frequency of misdiagnosis, presenting symptomatology). The analysis was conducted in a dataset from Brazilian patients (from November 2008 to January 2016). Results: One hundred and sixty participants (52.5% male) were included in the analysis. The majority of participants (90.6%) reported a positive family history of ATTR-FAP Median age at symptom onset was 32.5 years. Val30Met mutation was found in 91.9%. Misdiagnosis was observed in 26.6% of symptomatic patients. Over one-third (35.3%) of the misdiagnosed patients experienced a delay of more than one year before receiving a correct diagnosis. At presentation, 79.7% of the patients had motor, 87.5% sensory and 93.8% autonomic symptoms. Conclusion: ATTR-FAP in Brazil starts early, has a strong family history and the majority has Val30Met mutation. Misdiagnosis is common and the most common presentation is of a sensorimotor and autonomic neuropathy. |
| format | Article |
| id | doaj-art-3cad4dfa144444e488dbf76795a0c821 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-3cad4dfa144444e488dbf76795a0c8212025-08-20T02:16:38ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42277729610010.1590/0004-282x20180156S0004-282X2019000200096Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS)Márcia Waddington CruzMarcus Vinicius PintoLuiz Felipe PintoRenata GervaisMoisés DiasCarlos PerezRajiv MundayatMoh-Lim OngRoberto Coury PedrosaDébora FoguelABSTRACT Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at onset and geographical location. This study aimed to describe baseline disease characteristics of Brazilian patients with transthyretin familial amyloid polyneuropathy (ATTR-FAP) enrolled in the Transthyretin Amyloidosis Outcome Survey (THAOS). Methods: The THAOS is an international, noninterventional, longitudinal, observational, web-based registry designed to characterize ATTR. The outcome measures included demographics (age at symptom onset, gender, time from onset of symptoms to diagnosis, family history), genotype, and clinical characteristics (presence of amyloid deposit, frequency of misdiagnosis, presenting symptomatology). The analysis was conducted in a dataset from Brazilian patients (from November 2008 to January 2016). Results: One hundred and sixty participants (52.5% male) were included in the analysis. The majority of participants (90.6%) reported a positive family history of ATTR-FAP Median age at symptom onset was 32.5 years. Val30Met mutation was found in 91.9%. Misdiagnosis was observed in 26.6% of symptomatic patients. Over one-third (35.3%) of the misdiagnosed patients experienced a delay of more than one year before receiving a correct diagnosis. At presentation, 79.7% of the patients had motor, 87.5% sensory and 93.8% autonomic symptoms. Conclusion: ATTR-FAP in Brazil starts early, has a strong family history and the majority has Val30Met mutation. Misdiagnosis is common and the most common presentation is of a sensorimotor and autonomic neuropathy.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2019000200096&lng=en&tlng=enAmyloidosisamyloid neuropathies, familialpolyneuropathy |
| spellingShingle | Márcia Waddington Cruz Marcus Vinicius Pinto Luiz Felipe Pinto Renata Gervais Moisés Dias Carlos Perez Rajiv Mundayat Moh-Lim Ong Roberto Coury Pedrosa Débora Foguel Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS) Arquivos de Neuro-Psiquiatria Amyloidosis amyloid neuropathies, familial polyneuropathy |
| title | Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS) |
| title_full | Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS) |
| title_fullStr | Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS) |
| title_full_unstemmed | Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS) |
| title_short | Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS) |
| title_sort | baseline disease characteristics in brazilian patients enrolled in transthyretin amyloidosis outcome survey thaos |
| topic | Amyloidosis amyloid neuropathies, familial polyneuropathy |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2019000200096&lng=en&tlng=en |
| work_keys_str_mv | AT marciawaddingtoncruz baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos AT marcusviniciuspinto baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos AT luizfelipepinto baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos AT renatagervais baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos AT moisesdias baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos AT carlosperez baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos AT rajivmundayat baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos AT mohlimong baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos AT robertocourypedrosa baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos AT deborafoguel baselinediseasecharacteristicsinbrazilianpatientsenrolledintransthyretinamyloidosisoutcomesurveythaos |