CASE REPORT


Very Early Onset of ATTRE89Q Amyloidosis in a Homozygous Patient



Massimo Russo1, *, Francescopaolo Cucinotta1, Luca Gentile1, Gian Maria Fabrizi2, Federica Taioli2, Giuseppe Vita1, Antonio Toscano1, Anna Mazzeo1
1 Department of Clinical and Experimental Medicine, Unit of Neurology and Neuromuscular Diseases, University of Messina, Messina, Italy
2 Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy


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Creative Commons License
© 2021 Russo et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at Department of Clinical and Experimental Medicine, Unit of Neurology and Neuromuscular Diseases, University of Messina, Messina, Italy; Tel: +390902213504; E-mail: russom@unime.it


Abstract

Case Presentarion:

Hereditary transthyretin amyloidosis is a progressive, fatal disease that generally involves the peripheral nervous system, the autonomic nervous system, and the heart. It is autosomal dominant with different penetrance depending on the mutation and the genetic background. Many other missense mutations of the TTR gene may cause the disease. Being an overall rare disease is very rare to observe the condition of homozygosity. In particular, cases of homozygosity have been described in patients with ATTRV30M and ATTRV122I amyloidosis. In the former, the phenotype does not seem to be aggravated, having an age of onset and disease course that does not appear to differ from those of heterozygotes, while in the latter, the onset appears to be earlier.

Conclusion:

We report the first case of ATTRE89Q amyloidosis in a patient that was homozygous for the E89Q mutation in the TTR gene. The clinical phenotype resulted in the earlier disease onset reported in this form of amyloidosis, suggesting that the homozygous condition may be prognostically negative.

Keywords: Transthyretin, Cardiac Amyloidosis, Homozygous, E89Q, ATTRE89Q, Early-onset .