Neuropathy Assessment and Treatment Patterns in Patients With Hereditary Transthyretin Amyloidosis: A Single-Center Analysis of Stabilizer and Gene Silencer Utilization

Background and ObjectivesHereditary transthyretin amyloidosis (hATTR) manifests as cardiomyopathy and/or polyneuropathy. Patients may be thought to have neuropathy for a variety of reasons, but the clinical evidence supporting that impression varies. We used ICD-10 coding to broadly capture patients thought to have neuropathy in a V142I-predominant cohort and examined what clinical documentation actually supported the diagnosis and whether documentation level influences treatment selection. MethodsRetrospective chart review of 54 patients identified by co-occurring ICD-10 codes for hereditary transthyretin amyloidosis and polyneuropathy at a major academic medical center, with pathogenic TTR variant confirmation. Neuropathy codes were then classified by the level of clinical evidence supporting the diagnosis. Treatment with TTR stabilizers and gene silencers was assessed. ResultsOf 54 patients (88.9% African American, 85.2% V142I), 51 (94.4%) had confirmed cardiac involvement with 40/42 eligible (95.2%) receiving stabilizers. Sixteen patients (29.6%) received gene silencers, with 13 receiving both concurrently. Clinical evidence supporting the neuropathy code was identified in 30 patients (55.6%): ancillary testing confirmation in 17 (31.5%), provider documentation without ancillary testing in 13 (24.1%), and symptoms only in 10 (18.5%). The remaining 14 (25.9%) had no clear clinical basis for the code. Gene silencer use was highest among those with ancillary testing (47.1%) versus symptoms only (10.0%). DiscussionAmong hATTR patients coded for neuropathy, only 31.5% had ancillary testing confirmation. Gene silencer use tracked with documentation quality rather than the presence of a code alone. These findings highlight the gap between administrative coding and clinical documentation and support standardized neurological assessment in hATTR.