Haemophagocytic Lymphohistiocytosis responding to withdrawal of gluten: a case report
File(s)
Published version
Author(s)
Fordham, NJ
Ajitsaria, R
Karnik, L
Chakravorty, S
Type
Journal Article
Abstract
Introduction
This is the first documented case of a patient with Haemophagocytic Lymphohistiocytosis (HLH) in association with coeliac disease. There was complete clinical and biochemical remission of HLH following the introduction of a gluten free diet.
Case presentation
A seven-year old Caucasian girl presented with fevers, maculopapular rash with a recent history of tonsillitis. Blood tests revealed thrombocytopenia (64 x 109/L), anaemia (80g/L), hypofibrinogenaemia (1g/L) and hyperferritinaemia (71378µg/L). A bone marrow revealed evidence of haemophagocytosis, but tests for the genetic or familial associated HLH syndromes were negative. Screening tests for known secondary causes was negative. She was diagnosed with HLH, and following treatment with the HLH-2004 protocol these symptoms, in addition to the biochemical and haematological markers completely resolved.
The patient presented again ten months later with fever, rash, and biochemical abnormalities suggestive of HLH. Tissue transglutamase was markedly raised and blood tests revealed a genetic susceptibly to coeliac disease in the form of HLA DQ2 positivity. She commenced a gluten free diet and there was complete symptomatic and biochemical response without any further chemotherapy. She had further episodic rashes, each associated with the accidental intake of gluten.
Conclusion
This is to our knowledge the first documented case of HLH in association with coeliac disease. There was no other secondary cause found; she initially responded to chemo-immunotherapy specific for HLH but relapsed within a few months of cessation of treatment and then achieved complete remission on gluten withdrawal alone.
This is the first documented case of a patient with Haemophagocytic Lymphohistiocytosis (HLH) in association with coeliac disease. There was complete clinical and biochemical remission of HLH following the introduction of a gluten free diet.
Case presentation
A seven-year old Caucasian girl presented with fevers, maculopapular rash with a recent history of tonsillitis. Blood tests revealed thrombocytopenia (64 x 109/L), anaemia (80g/L), hypofibrinogenaemia (1g/L) and hyperferritinaemia (71378µg/L). A bone marrow revealed evidence of haemophagocytosis, but tests for the genetic or familial associated HLH syndromes were negative. Screening tests for known secondary causes was negative. She was diagnosed with HLH, and following treatment with the HLH-2004 protocol these symptoms, in addition to the biochemical and haematological markers completely resolved.
The patient presented again ten months later with fever, rash, and biochemical abnormalities suggestive of HLH. Tissue transglutamase was markedly raised and blood tests revealed a genetic susceptibly to coeliac disease in the form of HLA DQ2 positivity. She commenced a gluten free diet and there was complete symptomatic and biochemical response without any further chemotherapy. She had further episodic rashes, each associated with the accidental intake of gluten.
Conclusion
This is to our knowledge the first documented case of HLH in association with coeliac disease. There was no other secondary cause found; she initially responded to chemo-immunotherapy specific for HLH but relapsed within a few months of cessation of treatment and then achieved complete remission on gluten withdrawal alone.
Date Issued
2016-09-22
Date Acceptance
2016-08-25
Citation
Journal of Medical Case Reports, 2016, 10
ISSN
1752-1947
Publisher
BioMed Central
Journal / Book Title
Journal of Medical Case Reports
Volume
10
Copyright Statement
© 2016 The Author(s). Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and
reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver
(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and
reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver
(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
License URL
Subjects
General & Internal Medicine
1199 Other Medical And Health Sciences
Publication Status
Published
Article Number
262