Skin denervation as an early diagnostic marker of hereditary amyloidogenic transthyretin amyloidosis

Abstract

Transthyretin-type familial amyloid polyneuropathy (ATTR-FAP) is an autosomal dominant disorder caused by mutations in TTR, characterized by systemic accumulation of amyloid fibrils in various organs. ATTR-FAP patients usually show small fiber neuropathy (SFN). Novel disease-modifying therapies are most effective when started early in the disease process. Therefore, early diagnosis is becoming more important. Moreover, accurate and reliable methods for monitoring efficacy of these new treatments are also needed. In our study, we found early skin denervation in ATTR-FAP, even in the presymptomatic stage of the disease. Skin denervation may be a useful marker for early diagnosis and may aid quantitative evaluation for evaluating SFN in ATTR-FAP.