Abstract Details

Title Highly Prevalent but Mild Neuropathic Burden in Wild-type Transthyretin Amyloidosis

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P7 - Poster Session 7 (8:00 AM-9:00 AM)

Poster/Presentation
Number 9-007

Objective To assess the neuropathic burden and quality-of-life impact in patients with wild-type transthyretin amyloidosis (wtATTR) using standardized clinical and patient-reported outcomes.

Background Wild-type transthyretin amyloidosis is increasingly diagnosed in older adults and is associated with systemic involvement, especially cardiomyopathy. However, the burden and phenotype of neuropathy in wtATTR remain poorly defined due to limited prospective data.

Design/Methods For this prospective study, we screened 119 patients with confirmed transthyretin amyloidosis based on biopsy or technetium-PYP scanning and negative TTR genetic testing. Individuals with alternative causes of neuropathy were excluded. Of the 33 eligible individuals contacted, 10 completed full neurologic evaluation and patient-reported assessments. Neuropathic symptoms were measured using the Neuropathy Symptom Change (NSC) score. Neuropathy severity was quantified with the modified Neuropathy Impairment Score +7 (mNIS+7), EQ-5D, Norfolk-DN ADL, RODS, SFN RODS and RB SFN-SIQ.

Results Ten participants (7 male, 3 female; mean age 75) completed the study. All had systemic amyloidosis, with cardiac involvement (7/9 heart failure, 5/9 arrhythmia) and musculoskeletal (8/9 carpal tunnel syndrome, 3/9 biceps tendon rupture, 5/9 spinal stenosis). 7/10 patients had symptoms of neuropathy, with 3/7 with sensory neuropathy, 2/7 with sensorimotor neuropathy, and 4/7 with autonomic neuropathy. The mean mNIS+7 score was 13.9 (range 3–29), reflecting a mild neuropathic involvement. Mean score of PROs are (mean/max score): EQ-5D (68.56/100), Norfolk-DN ADL (1.56/116), RODS 44.44/48, SFN RODS 54.78/64, and SFN-SIQ 7.22/13.

Conclusions

In contrast to the majority of hATTR mutations, this series shows a limited severity of neuropathic burden in wtATTR when comorbidities associated with neuropathy are excluded. 70% of patients with wild type TTR amyloidosis have a mild sensory and autonomic neuropathy, without severe Quality of life or functional impact. Disorders potentially causing neuropathy are highly prevalent in this population.

Authors/Disclosures
Naman Bareja, MBBS (Naman Bareja) PRESENTER	Dr. Bareja has nothing to disclose.
Maria G. Bartkus, MD (Lahey)	Dr. Bartkus has nothing to disclose.
Anil R. Patel, Principal Scientist	Mr. Patel has nothing to disclose.
Raymond Comenzo, MD (Tufts Medical Center)	No disclosure on file
Oscar Soto, MD, PhD (Tufts Medical Center)	Dr. Soto has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alnylam. The institution of Dr. Soto has received research support from CTSI.
Ron Riesenburger, MD	The institution of Dr. Riesenburger has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Astra Zeneca. The institution of Dr. Riesenburger has received research support from NIH. The institution of Dr. Riesenburger has received research support from Tufts.

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