Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Lingtong, Wu, Wei, Zhu, Yijing, Yu, Huili, Tang, Lingling, Fang, Xueling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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
_version_ 1784640363858755584
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
work_keys_str_mv AT huanglingtong casereporthemophagocyticlymphocytosisinapatientwithglutaricaciduriatypeiic
AT wuwei casereporthemophagocyticlymphocytosisinapatientwithglutaricaciduriatypeiic
AT zhuyijing casereporthemophagocyticlymphocytosisinapatientwithglutaricaciduriatypeiic
AT yuhuili casereporthemophagocyticlymphocytosisinapatientwithglutaricaciduriatypeiic
AT tanglingling casereporthemophagocyticlymphocytosisinapatientwithglutaricaciduriatypeiic
AT fangxueling casereporthemophagocyticlymphocytosisinapatientwithglutaricaciduriatypeiic