APOA1 related amyloidosis: a case report and literature review

Abstract

Objectives: Amyloidosis results from local or systemic extracellular deposition of insoluble protein fibrils and is associated with certain rare mutations in APOA1 encoding apolipoprotein (apo) A-I.

Design and methods: In a patient with renal-predominant amyloidosis with neuropathy, we found the APOA1 G26R mutation.

Conclusions: While the spectrum of APOA1 mutations provides no particular mechanistic insights, molecular diagnosis may still be important due to clinical differences between amyloidosis resulting from mutation in APOA1 vs. other genes.