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
Article Information
Identifiers and Pagination:
Year: 2021Volume: 15
First Page: 21
Last Page: 24
Publisher ID: TONEUJ-15-21
DOI: 10.2174/1874205X02115010021
Article History:
Received Date: 28/11/2020Revision Received Date: 15/3/2021
Acceptance Date: 17/3/2021
Electronic publication date: 19/05/2021
Collection year: 2021
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.
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.