Late-onset hereditary ATTR V30M amyloidosis with polyneuropathy: Characterization of Brazilian subjects from the THAOS registry

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:403

Article

Pinto, Marcus Vinicius^1,2  Pinto, Luiz Felipe¹  Dias, Moises¹  Rosa, Renata Santa¹  Mundayat, Rajiv³  Pedrosa, Roberto Coury¹  Waddington-Cruz, Marcia¹ 

[1] Univ Fed Rio de Janeiro, CEPARM, Natl Amyloidosis Referral Ctr, Rodolpho Paulo Rocco St,7 Floor, BR-21941913 Rio De Janeiro, Brazil

[2] Mayo Clin, Dept Neurol, Rochester, MN USA

[3] Pfizer Inc, New York, NY USA

关键词: Familial amyloid polyneuropathy;    Hereditary transthyretin amyloidosis;    Polyneuropathy;    Late-onset ATTRv-PN;    Early-onset ATTRv-PN;   

DOI  :  10.1016/j.jns.2019.05.030

来源: Elsevier

【 摘 要 】

Background: Despite growing numbers of patients diagnosed with late-onset hereditary ATTR V3OM amyloidosis with polyneuropathy (ATTRv-PN), this condition remains poorly characterized in Brazil. Objective: Characterize late-onset V3OM ATTRv-PN in Brazil. Material and methods: Demographic and clinical data at the time of enrolment for Brazilian subjects with symptomatic V3OM ATTRv-PN were extracted from the ongoing, multinational, longitudinal, observational Transthyretin Amyloidosis Outcomes Survey (THAOS; cut-off date: January 30, 2017). Subjects were divided into those with symptom onset at age < 50 years (EO-V30M), and at age >= 50 years (LO-V30M). Results: A total of 96 Va130Met patients were symptomatic. LO-V3OM (n = 25, 26.0%) had a longer time to diagnosis (mean 5.1 vs. 2.8 yrs.; p = 0.006) and less frequently positive family history (40% vs. 95.8%; p < 0.0001) than EO-V30M. Clinically, subjects with LO-V3OM had more imbalance (92% vs. 54.9%; p = 0.006), deep sensory loss (100% vs. 80%; p = 0.0178), electrocardiogram abnormalities (88.9% vs. 59.4; p = 0.0241), and interventricular septum hypertrophy (69.2% vs. 0%; p < 0001) and less frequently sensory dissociation (12% vs. 74%; p < 0.0001). Also, LO-V3OM tended to have more severe mean Neurologic Composite Score (101 vs. 70 pts.; p = 0.1136). Conclusions: LO-V3OM ATTRv-PN is not unusual in Brazil, tending to be more difficult to diagnose and present with a more severe phenotype, with more large nerve fibers and cardiac involvement than EO-V30M. Trial Registration: ClinicalTrials.gov: NCT00628745

【 授权许可】

Free