Ultrasonographic nerve enlargement in post-transplanted patient with hereditary transthyretin amyloidosis.

A 43-year-old male patient with a 7-year history of liver transplantation due to p.Val50Met hereditary transthyretin amyloidosis (ATTRv) persisted with refractory neuropathic pain, distal weakness, and progressive worsening of dysautonomia. Nerve ultrasound was performed showing increased nerve cross-sectional area and enlarged fascicles in proximal sites in both arms, suggestive of amyloidosis. Nerve enlargement is commonly reported in inflammatory and hereditary demyelinating hypertrophic neuropathies but can also be present in deposition diseases. Neuromuscular ultrasound is a tool for the bed-side assessment of peripheral neuropathies and it is useful for early diagnosis of ATTRv.

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

BACKGROUND: Despite growing numbers of patients diagnosed with late-onset hereditary ATTR V30M amyloidosis with polyneuropathy (ATTRv-PN), this condition remains poorly characterized in Brazil. OBJECTIVE: Characterize late-onset V30M ATTRv-PN in Brazil. MATERIAL AND METHODS: Demographic and clinical data at the time of enrolment for Brazilian subjects with symptomatic V30M 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 Val30Met patients were symptomatic. LO-V30M (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-V30M 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-V30M tended to have more severe mean Neurologic Composite Score (101 vs. 70 pts.; p = 0.1136). CONCLUSIONS: LO-V30M 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.