Abstract Details

Title Hereditary Transthretin Amyloidosis (hATTR) V142I Polyneuropathy Characteristics: A Multi-Center Perspective

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P8 - Poster Session 8 (11:45 AM-12:45 PM)

Poster/Presentation
Number 11-004

Objective

We summarize the experience across 3 centers of patients with V142I hATTR and detail electrodiagnostic data for these patients.

Background

HATTR is an autosomal dominant genetic disorder occurring world-wide. The most common mutation occurring in the United States is the V142I variant, occurring in up to 3.5% of African-Americans, with incomplete penetrance. The V142I variant has previously been described as having a primarily cardiac presentation, but our centers have found polyneuropathy (PN) to be commonly present with varying phenotypes.

Design/Methods This was a retrospective analysis of 32 patients (15 Vanderbilt, 16 Atrium Health, 1 at St. Luke's Hospital, MO). Patients' neurological, autonomic, and cardiac symptoms and signs, as well as nerve conduction studies (NCS) were reviewed. Skin biopsy data and cardiac imaging were also reviewed.

Results Twenty men and twelve women were evaluated. All patients had signs of PN, with abnormal pinprick sensation in 72%, weakness in 56%, and pain in only 25% of patients. NCS were abnormal in 91% with the 3 normal patients having abnormal skin biopsy and pure small fiber neuropathy presentation. 6 patients had significant conduction velocity slowing with 1 meeting ENFS criteria for CIDP. 21 (65%) had cardiac involvement, and 13 with GI/autonomic symptoms. 26 (81%) had carpal tunnel syndrome (CTS) with low median motor amplitudes a common finding (28%). 11 patients had coexistent causes of PN.

Conclusions Polyneuropathy is more commonly found in V142I patients than previously reported, and has a wide phenotypic variation of weakness, pain, autonomic involvement, and electrodiagnostic features. CTS is common in V142I patients. Pain is not as common in patients with this variant compared to other features of neuropathy, and may be a reason for missed diagnoses in this population. Significantly abnormal median motor amplitudes may help differentiate amyloid PN. NCS are sensitive for detecting PN for most patients with V142I hATTR.

Authors/Disclosures
Urvi G. Desai, MD, FAAN (Dept of Neurology, CMC) PRESENTER	Dr. Desai has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Takeda. Dr. Desai has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fulcrum. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catalyst. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Alexion. Dr. Desai has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Argenx.
Hristelina S. Ilieva, MD (ALS Weinberg Clinic)	The institution of Dr. Ilieva has received research support from ALSA. Dr. Ilieva has received personal compensation in the range of $0-$499 for serving as a reviewer with DOD.
James Eyer, MD (Department of Neurology)	Mr. Eyer has nothing to disclose.
Amanda C. Peltier, MD, MS (Vanderbilt University)	Dr. Peltier has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alnylam. Dr. Peltier has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for astrazeneca. Dr. Peltier has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for CSL Behring. Dr. Peltier has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Csl Behring. Dr. Peltier has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for argenx. Dr. Peltier has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for alnylam. Dr. Peltier has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for astrazeneca. Dr. Peltier has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Goldman Ismail. The institution of Dr. Peltier has received research support from NIH. The institution of Dr. Peltier has received research support from CSL Behring.

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