Familial Amyloid Polyneuropathy: Diagnostic Challenges in a 78-Year-Old Male with Polyneuropathy and Heart Failure

Abstract

Transthyretin amyloidosis (ATTR) is a rare, progressive disorder caused by the accumulation of misfolded transthyretin (TTR) proteins in various tissues and organs, leading to the formation of amyloid deposits.

In ATTR, genetic mutations (hereditary form) or age-related changes (wild-type form), cause the TTR proteins to become unstable, misfold, and aggregate into amyloid fibrils. These amyloid deposits can affect multiple organs, most commonly the peripheral nerves and the heart.

Symptoms vary depending on the organs involved, being heart failure and/or polyneuropathy the predominant. The treatment aims at stabilizing the TTR, reduce amyloid production, or remove amyloid deposits.

The authors present a case of a 78-year-old man, with a recent onset of polyneuropathy and recurrent episodes of decompensated heart failure, in whom, the diagnosis of Familial Amyloid Polyneuropathy, a subtype of hereditary ATTR was made.