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Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis

BACKGROUND: Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare condition where a mutation in the transthyretin gene leads to systemic deposition of amyloid. The manifestations and prognosis of ATTR amyloidosis depends on the specific ATTR mutation, with over 100 mutations reported in...

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Autores principales: Patil, Nikhil S., Iqbal, Munir M., Bursztyn, Lulu L. C. D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8734248/
https://www.ncbi.nlm.nih.gov/pubmed/34991732
http://dx.doi.org/10.1186/s40942-021-00357-x
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author Patil, Nikhil S.
Iqbal, Munir M.
Bursztyn, Lulu L. C. D.
author_facet Patil, Nikhil S.
Iqbal, Munir M.
Bursztyn, Lulu L. C. D.
author_sort Patil, Nikhil S.
collection PubMed
description BACKGROUND: Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare condition where a mutation in the transthyretin gene leads to systemic deposition of amyloid. The manifestations and prognosis of ATTR amyloidosis depends on the specific ATTR mutation, with over 100 mutations reported in the literature. The manifestations of many rare forms of ATTR amyloidosis have not been well described, particularly the late-onset ophthalmic findings. CASE PRESENTATION: We present the case of a 43-year-old Caucasian male with a diagnosis of ATTRD18E amyloidosis confirmed by fat pad biopsy. He had diffuse systemic involvement, including cardiovascular, pulmonary, and gastrointestinal symptoms. He also had significant ocular involvement including vitreous opacities, retinal angiopathy, and conjunctival lymphangiectasia. These ocular findings modestly progressed at 2-year follow-up. DISCUSSION: The ATTRD18E mutation is a rare variant, with few described cases. To our knowledge, this is the first documented case of ATTRD18E amyloidosis with significant ocular involvement. These ocular findings may serve as a relevant biomarker for severe disease prognosis in ATTRD18E amyloidosis. With improving treatments addressing the systemic symptoms of ATTR amyloidosis, a better understanding of the late-onset ocular symptoms is becoming increasingly relevant.
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spelling pubmed-87342482022-01-07 Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis Patil, Nikhil S. Iqbal, Munir M. Bursztyn, Lulu L. C. D. Int J Retina Vitreous Case Report BACKGROUND: Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare condition where a mutation in the transthyretin gene leads to systemic deposition of amyloid. The manifestations and prognosis of ATTR amyloidosis depends on the specific ATTR mutation, with over 100 mutations reported in the literature. The manifestations of many rare forms of ATTR amyloidosis have not been well described, particularly the late-onset ophthalmic findings. CASE PRESENTATION: We present the case of a 43-year-old Caucasian male with a diagnosis of ATTRD18E amyloidosis confirmed by fat pad biopsy. He had diffuse systemic involvement, including cardiovascular, pulmonary, and gastrointestinal symptoms. He also had significant ocular involvement including vitreous opacities, retinal angiopathy, and conjunctival lymphangiectasia. These ocular findings modestly progressed at 2-year follow-up. DISCUSSION: The ATTRD18E mutation is a rare variant, with few described cases. To our knowledge, this is the first documented case of ATTRD18E amyloidosis with significant ocular involvement. These ocular findings may serve as a relevant biomarker for severe disease prognosis in ATTRD18E amyloidosis. With improving treatments addressing the systemic symptoms of ATTR amyloidosis, a better understanding of the late-onset ocular symptoms is becoming increasingly relevant. BioMed Central 2022-01-06 /pmc/articles/PMC8734248/ /pubmed/34991732 http://dx.doi.org/10.1186/s40942-021-00357-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Patil, Nikhil S.
Iqbal, Munir M.
Bursztyn, Lulu L. C. D.
Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis
title Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis
title_full Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis
title_fullStr Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis
title_full_unstemmed Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis
title_short Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis
title_sort conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8734248/
https://www.ncbi.nlm.nih.gov/pubmed/34991732
http://dx.doi.org/10.1186/s40942-021-00357-x
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