This study aimed to compare variant frequencies, patient demographics, clinical manifestations, and treatments seen in our Amyloidosis Multidisciplinary Clinic.

Hereditary transthyretin amyloidosis (ATTR) is a systemic condition caused by a mutation in the TTR gene resulting in the misfolding of transthyretin proteins into amyloids. ATTR is the most severe hereditary neuropathy with adult onset due to its progressive nature and deposition into vital organs and tissues.

We performed a retrospective review using a cohort of 63 patients seen at our institution over 4 years. Patient charts were reviewed for demographic data, musculoskeletal manifestations, diagnostic measures, and treatments.

The results demonstrated a predominance of the TTR variant, V142I, seen in 63% of patients which is also the most common variant causing ATTR in the United States. Of the diagnostic modalities used to identify ATTR variants, the community DNA sequencing program accounted for 46.7% of the diagnoses. When exploring race, ATTR globally has been found to disproportionally affect the Black population while our patients were only 34% Black and 59% White. A notable finding in the analysis was that V142I was the only variant in our population with patients diagnosed with a pure neuropathy phenotype. Of the musculoskeletal manifestations observed in our population, spinal stenosis was the most common, seen in 30.2% of patients. When examining treatments for patients, the most common therapy seen was green tea extract which was given to 30.2% of patients.

The next steps in this study would be to understand factors that led to discrepancies in demographics of the patient populations and evaluate the differences in the treatments administered in our clinic. Based on this study, the community DNA sequencing project was an effective tool in identifying carriers of ATTR variants and should continue to be used to target at-risk populations for ATTR in the population.