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Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC
Hemophagocytic lymphocytosis (HLH) is a rare disease caused by inborn errors of immunity (IEI), secondary to infection, lymphoma or autoimmune disorders, but we often overlook the fact that HLH can be secondary to inborn errors of metabolism (IEM). Here, we describe a patient who was diagnosed with...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8792439/ https://www.ncbi.nlm.nih.gov/pubmed/35095902 http://dx.doi.org/10.3389/fimmu.2021.810677 |
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author | Huang, Lingtong Wu, Wei Zhu, Yijing Yu, Huili Tang, Lingling Fang, Xueling |
author_facet | Huang, Lingtong Wu, Wei Zhu, Yijing Yu, Huili Tang, Lingling Fang, Xueling |
author_sort | Huang, Lingtong |
collection | PubMed |
description | Hemophagocytic lymphocytosis (HLH) is a rare disease caused by inborn errors of immunity (IEI), secondary to infection, lymphoma or autoimmune disorders, but we often overlook the fact that HLH can be secondary to inborn errors of metabolism (IEM). Here, we describe a patient who was diagnosed with glutaric aciduria type IIC complicated by features suggestive of possible HLH. The diagnosis of glutaric aciduria type IIC, a IEM, was confirmed by whole exome sequencing. The patient was treated with coenzyme Q10 and riboflavin which effectively improved her liver function. During treatment, the patient developed severe anemia and thrombocytopenia. Persistent fever, splenomegaly, cytopenias, increased ferritin, hypertriglyceridemia, hypofibrinogenemia, and hemophagocytosis in the bone marrow pointed to the diagnosis of HLH; however, the patient eventually died of gastrointestinal bleeding. After other potential causes were ruled out, the patient was diagnosed with glutaric aciduria type IIC complicated by features suggestive of possible HLH. When cytopenias occurs in IEM patients, HLH is a possible complication that cannot be ignored. This case suggests a possible relationship between IEM and risk for immune dysregulation. |
format | Online Article Text |
id | pubmed-8792439 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-87924392022-01-28 Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC Huang, Lingtong Wu, Wei Zhu, Yijing Yu, Huili Tang, Lingling Fang, Xueling Front Immunol Immunology Hemophagocytic lymphocytosis (HLH) is a rare disease caused by inborn errors of immunity (IEI), secondary to infection, lymphoma or autoimmune disorders, but we often overlook the fact that HLH can be secondary to inborn errors of metabolism (IEM). Here, we describe a patient who was diagnosed with glutaric aciduria type IIC complicated by features suggestive of possible HLH. The diagnosis of glutaric aciduria type IIC, a IEM, was confirmed by whole exome sequencing. The patient was treated with coenzyme Q10 and riboflavin which effectively improved her liver function. During treatment, the patient developed severe anemia and thrombocytopenia. Persistent fever, splenomegaly, cytopenias, increased ferritin, hypertriglyceridemia, hypofibrinogenemia, and hemophagocytosis in the bone marrow pointed to the diagnosis of HLH; however, the patient eventually died of gastrointestinal bleeding. After other potential causes were ruled out, the patient was diagnosed with glutaric aciduria type IIC complicated by features suggestive of possible HLH. When cytopenias occurs in IEM patients, HLH is a possible complication that cannot be ignored. This case suggests a possible relationship between IEM and risk for immune dysregulation. Frontiers Media S.A. 2022-01-13 /pmc/articles/PMC8792439/ /pubmed/35095902 http://dx.doi.org/10.3389/fimmu.2021.810677 Text en Copyright © 2022 Huang, Wu, Zhu, Yu, Tang and Fang https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Immunology Huang, Lingtong Wu, Wei Zhu, Yijing Yu, Huili Tang, Lingling Fang, Xueling Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC |
title | Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC |
title_full | Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC |
title_fullStr | Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC |
title_full_unstemmed | Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC |
title_short | Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC |
title_sort | case report: hemophagocytic lymphocytosis in a patient with glutaric aciduria type iic |
topic | Immunology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8792439/ https://www.ncbi.nlm.nih.gov/pubmed/35095902 http://dx.doi.org/10.3389/fimmu.2021.810677 |
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