Sensitivity of Nerve and Skin Biopsy and Fat Aspirate for Amyloid in Symptomatic Hereditary ATTR Amyloidosis With Peripheral Neuropathy

OBJECTIVES: The aim of this study was to compare the sensitivity of nerve biopsy, fat aspirate, and skin biopsy in detecting amyloid in symptomatic hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN). METHODS: variant and either a positive tissue biopsy or a positive pyrophosphate cardiac scintigraphy scan. Demographic, clinical, laboratory, and pathologic data were reviewed. RESULTS: = 0.02, n = 25) in patients who underwent skin biopsy and fat aspirate. DISCUSSION: Nerve biopsies are more sensitive than fat aspirate or skin biopsy for tissue diagnosis in this retrospective cohort of patients with symptomatic ATTRv-PN. Skin biopsy was slightly more sensitive than fat aspirate. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that a nerve biopsy, fat aspirate, and skin biopsy can accurately diagnose hereditary transthyretin amyloidosis in patients presenting with polyneuropathy. Nerve biopsies are more accurate than fat aspirates or skin biopsies in identifying patients with hereditary transthyretin amyloidosis.