Comparing Biopsy Sites in Hereditary Amyloidosis with Neuropathy

Timely diagnosis of hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is essential because the disease is progressive, potentially fatal, and can mimic common polyneuropathies. Disease-modifying therapies are available, and a pathogenic TTR variant plus a positive tissue biopsy or pyrophosphate cardiac scintigraphy scan generally confirms the diagnosis.

To compare amyloid detection rates across different biopsy sites, researchers reviewed records from 111 symptomatic patients with genetically confirmed ATTRv-PN who had undergone abdominal fat aspiration, skin biopsy, or nerve biopsy. Most patients had mild disease and were still ambulatory.