Abstract Details

Title Clinical and Epidemiological Characteristics of Patients with TTR Mutations and Polyneuropathy Manifestations of Hereditary Transthyretin Amyloidosis: Insights from a Genetic Testing Program

Topic General Neurology

Presentation(s) General Neurology Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 044

Objective To characterize the clinical profile of patients suspected of having hereditary transthyretin amyloidosis (hATTR or ATTRv [variant]) with polyneuropathy.

Background hATTR is a progressive and fatal disease caused by mutations in the transthyretin gene (TTR) that result in the deposition of misfolded TTR protein in major organs and systems, leading to multisystem dysfunction. Patients often experience a mixed phenotype of both cardiomyopathy and polyneuropathy. Early diagnosis, which can be facilitated with genetic testing, is key to achieve optimal patient outcomes.

Design/Methods This analysis utilized data from patients enrolled in the hATTR Compass program, a confidential genetic testing program offered in the United States (including Puerto Rico) and Canada for patients suspected of having hATTR with polyneuropathy or with a family history of hATTR.

Results Of 718 patients with a confirmed pathogenic TTR mutation, 345 had ≥1 symptom consistent with polyneuropathy. The mean age of these symptomatic patients was 69 years, most were male (59%) and African American (70%). A minority of patients reported a family history of hATTR (18%). Cardiologists and neurologists referred 65% and 8% of symptomatic patients, respectively. Patients who reported on pre-diagnosis experience (10%) saw an average of 2.4 doctors before their genetic diagnosis visit. Patients presented with a variety of symptoms/manifestations including heart disease (53%), sensory dysfunction (44%), bilateral carpal tunnel syndrome (26%), motor dysfunction (26%), and autonomic dysfunction (24%). Of note, patients with the p.53L mutation, generally considered a predominantly neurologic phenotype mutation, presented with heart disease.

Conclusions Diagnosis of hATTR amyloidosis is challenging, as many patients see multiple doctors before being diagnosed and many do not have a known family history of hATTR. Patients with hATTR often present with polyneuropathy and cardiomyopathy symptoms. Recognition of hATTR symptoms and performing genetic testing facilitates diagnosis of this debilitating and fatal disease.

Authors/Disclosures
Sami L. Khella, MD, FAAN (Presbyterian Med Ctr/Dept of Neuro) PRESENTER	Dr. Khella has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Ionis. Dr. Khella has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ionis. Dr. Khella has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Khella has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alnylam. Dr. Khella has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eidos.
	No disclosure on file
	No disclosure on file
Catherine Marti	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
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