Vol 9, No 3 (2018)
Review paper
Published online: 2018-10-17
Principles of amyloidosis classification and nomenclature
Hematologia 2018;9(3):167-172.
Abstract
Amyloidosis is a heterogeneous group of diseases in which symptoms develop due to deposition of amyloid fibril proteins in the extracellular matrix of tissues and organs, as a result of protein misfolding. Because of the rareness, differential clinical manifestations and limited knowledge concerning the pathogenesis of amyloidoses of particular types, multiple medical terms developed in the professional literature to describe the same disease entity. However, with the increasing understanding of molecular basis of amyloidosis, it has become possible to standardize the terminology according to the structure of their chemical precursors. Currently recommended terminology of amyloid fibril proteins and amyloidosis is based on a regularly updated classification of the International Society of Amyloidosis (ISA). In accordance with the ISA definition, amyloid fibril protein deposits in the extracellular matrix in the form of amyloid, prone to Congo red staining and characterized by biofringence under polarized light. The current work presents the classification of so far identified amyloid fibril proteins and amyloidoses related to these proteins. General use of standardized amyloidosis terminology may be a significant facilitation in clinical practice, as well as in research.
Keywords: amyloid fibrilsamyloidosisnomenclature
References
- Sipe JD, Benson MD, Buxbaum JN, et al. Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid. 2016; 23(4): 209–213.
- Jamroziak K, Milani P, Puła B, et al. Diagnostyka i leczenie amyloidozy AL. Hematologia. 2018; 9(3): XX–XX.
- Grzybowski J, Szczygieł JA, Gawor M, et al. Amyloidoza łańcuchów lekkich immunoglobulin z punktu widzenia kardiologa. Hematologia. 2018; 9(3): XX–XX.
- IUPAC-IUB Joint Commission on Biochemical Nomenclature (JCBN). Nomenclature and symbolism for amino acids and peptides. Recommendations 1983. Biochemical J. 1984; 219(2): 345–373.
- IUPAC-IUB Joint Commission on Biochemical Nomenclature (JCBN). Nomenclature and symbolism for amino acids and peptides. Recommendations 1983. Eur J Biochem. 1984; 138(1): 9–37.
- den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat. 2016; 37(6): 564–569.
- Portincasa P, Scaccianoce G, Palasciano G. Familial mediterranean fever: a fascinating model of inherited autoinflammatory disorder. Eur J Clin Invest. 2013; 43(12): 1314–1327.
- Pitkanen P, Westermark P, Cornwell GG. 3rd. Senile systemic amyloidosis. Am J Pathol. 1984; 117(3): 391–399.
- Westermark P, Sletten K, Johansson B, et al. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci USA. 1990; 87(7): 2843–2845.
- Stangou AJ, Heaton ND, Hawkins PN. Transmission of systemic transthyretin amyloidosis by means of domino liver transplantation. N Engl J Med. 2005; 352(22): 2356.
- Deng J, Chen Q, Ji P, et al. Oral amyloidosis: A strategy to differentiate systemic amyloidosis involving the oral cavity and localized amyloidosis. Oral Dis. 2018 [Epub ahead of print].
