Blood test may help detect nerve damage in hereditary ATTR-PN

Measuring blood levels of a protein called neurofilament light chain (NfL) may help identify nerve damage in people with hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) caused by the Val30Met mutation, the most common mutation associated with the disease, a study shows.

However, although median NfL levels were numerically higher in people who carried the Val30Met mutation but had not developed symptoms than in healthy people without the mutation, the difference was not statistically significant.