A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report

Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic disorder associated with extracellular deposition in the tissues and organs of amyloid fibrils, transthyretin-containing insoluble protein-polysaccharide complexes. The change transthyretin conformation, leading to its destabilization amyloidogenicity, can be acquired (wild type, ATTRwt) hereditary due mutations TTR gene (variant, ATTRv) [1, 2]. Hereditary ATTR-amyloidosis has an earlier onset greater phenotypic diversity. age manifestation, predominant phenotype, prognosis are often determined by genetic variant. To date, more than 140 variants have been identified; however, most them described single patients do not clear evidence pathogenicity. prospects new pathogenetic treatment [3], especially effective early stages disease, increases relevance timely diagnosis, which challenging physicians' lack awareness. This article presents clinical case ATTRv-amyloidosis rare pathogenic variant newly skin symptom. literature review.