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Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation
Aceruloplasminemia is a rare disorder of iron accumulation inherited in an autosomal recessive fashion. It commonly presents as chronic microcytic anemia, and then progresses to signs and symptoms that are due to the accumulation of iron in multiple organs such as the brain, liver, pancreas, and thy...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7755722/ https://www.ncbi.nlm.nih.gov/pubmed/33376659 http://dx.doi.org/10.7759/cureus.11648 |
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author | Anugwom, Chimaobi M Moscoso, Carlos G Lim, Nicholas Hassan, Mohamed |
author_facet | Anugwom, Chimaobi M Moscoso, Carlos G Lim, Nicholas Hassan, Mohamed |
author_sort | Anugwom, Chimaobi M |
collection | PubMed |
description | Aceruloplasminemia is a rare disorder of iron accumulation inherited in an autosomal recessive fashion. It commonly presents as chronic microcytic anemia, and then progresses to signs and symptoms that are due to the accumulation of iron in multiple organs such as the brain, liver, pancreas, and thyroid. We present an asymptomatic patient with a history of microcytic anemia, who was evaluated for abnormal liver enzymes, and ultimately diagnosed with aceruloplasminemia. |
format | Online Article Text |
id | pubmed-7755722 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-77557222020-12-28 Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation Anugwom, Chimaobi M Moscoso, Carlos G Lim, Nicholas Hassan, Mohamed Cureus Genetics Aceruloplasminemia is a rare disorder of iron accumulation inherited in an autosomal recessive fashion. It commonly presents as chronic microcytic anemia, and then progresses to signs and symptoms that are due to the accumulation of iron in multiple organs such as the brain, liver, pancreas, and thyroid. We present an asymptomatic patient with a history of microcytic anemia, who was evaluated for abnormal liver enzymes, and ultimately diagnosed with aceruloplasminemia. Cureus 2020-11-23 /pmc/articles/PMC7755722/ /pubmed/33376659 http://dx.doi.org/10.7759/cureus.11648 Text en Copyright © 2020, Anugwom et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Anugwom, Chimaobi M Moscoso, Carlos G Lim, Nicholas Hassan, Mohamed Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation |
title | Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation |
title_full | Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation |
title_fullStr | Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation |
title_full_unstemmed | Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation |
title_short | Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation |
title_sort | aceruloplasminemia: a case report and review of a rare and misunderstood disorder of iron accumulation |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7755722/ https://www.ncbi.nlm.nih.gov/pubmed/33376659 http://dx.doi.org/10.7759/cureus.11648 |
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