Abstract Details

Title Diagnostic Patterns and Clinical Characteristics of Hereditary ATTR Amyloidosis: A Retrospective Study From a U.S. Health System

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P6 - Poster Session 6 (5:00 PM-6:00 PM)

Poster/Presentation
Number 9-008

Objective

To evaluate real-world diagnostic and treatment patterns of hereditary transthyretin(hATTR) amyloidosis across an urban U.S. health system.

Background Hereditary transthyretin (hATTR) amyloidosis is a progressive, multisystem disease caused by pathogenic TTR mutations. Despite its prevalence in certain populations—particularly among African Americans with the V142I variant, real-world data remain limited. As gene-silencing therapies such as vutrisiran, and eplontersen become more widely available, characterizing diagnostic and treatment patterns is critical.

Design/Methods We conducted a five-year retrospective review across the MedStar Health system. Patients with diagnostic codes for both neuropathy and amyloidosis were identified from electronic health records. Following manual chart review, 63 individuals met criteria for confirmed hATTR amyloidosis. Data were extracted on demographics, TTR genotypes, biopsy status, EMG, neurology and cardiology consultations, and use of disease-modifying therapies.

Results The median age was 78 years; the cohort was 89% African American and 94% non-Hispanic. Genetic testing was performed in 98%, with V142I found in 81%. Biopsy confirmation was present in 35%, and EMG was completed in 56%. Neurology and cardiology consultations were documented in 79% and 97%, respectively. Tafamidis alone was prescribed in 43%, tafamidis plus siRNA agents in 13%, tafamidis plus eplontersen in 6%, siRNA alone in 5%, and ASO alone in 2%. About 32% received no disease-modifying therapy.

Conclusions

In this diverse, urban cohort, V142I was predominant. Many patients lacked full diagnostic workup or treatment, underscoring disparities in care. These findings are especially relevant given the expanding role of gene-silencing therapies in hATTR management.

Authors/Disclosures
Hermela A. Wubet, MD PRESENTER	Dr. Wubet has nothing to disclose.
Nicholas S. Streicher, MD	Dr. Streicher has nothing to disclose.

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