Hemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease

Kar, Yeter Düzenli; Özdemir, Zeynep Canan; Kıral, Eylem; Yıldırım, Gonca; Dinleyici, Ener Çağrı; Bör, Özcan

doi:10.1097/mph.0000000000001208

Cited by 9 publications

(8 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Patients with storage diseases including Wolman's disease (infantile lysosomal acid lipase deficiency), Gaucher's, and other disorders have been reported to fulfill HLH diagnostic criteria . In most cases, these disorders should be considered as mimics of HLH disease, as they develop features of HLH (eg, splenomegaly, cytopenias) due to processes not involving immune hyperactivation.…”

Section: Practical Approach and Advice For The Diagnosis Of Hlhmentioning

confidence: 99%

Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO)

Jordan

Allen

Greenberg

et al. 2019

Pediatric Blood & Cancer

301

270

View full text Add to dashboard Cite

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathologic immune activation, often associated with genetic defects of lymphocyte cytotoxicity. Though a distinctive constellation of features has been described for HLH, diagnosis remains challenging as patients have diverse presentations associated with a variety of triggers. We propose two concepts to clarify how HLH is diagnosed and treated: within the broader syndrome of HLH, "HLH disease" should be distinguished from "HLH disease mimics" and HLH subtypes should be categorized by specific etiologic associations, not the ambiguous dichotomy of "primary" and "secondary." We provide expertbased advice regarding the diagnosis and initiation of treatment for patients with HLH, rooted in improved understanding of its pathophysiology.

show abstract

Section: Practical Approach and Advice For The Diagnosis Of Hlhmentioning

confidence: 99%

Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO)

Jordan

Allen

Greenberg

et al. 2019

Pediatric Blood & Cancer

301

270

View full text Add to dashboard Cite

show abstract

“…This is because the treatment of HLH, which is immunosuppression, is not beneficial in managing both Wolman and Gaucher disease. [80][81][82][83] Differential diagnosis in HLH producing isolated central nervous system disease includes viral encephalitis, 84 autoimmune disseminated encephalomyelitis, central nervous system vasculitis, multiple sclerosis, Rasmussen encephalitis, febrile infection-related epilepsy syndrome and acute necrotizing encephalopathy, or interferonopathies. 85 In Rasmussen encephalitis, a single hemisphere is only usually affected.…”

Section: Differential Diagnosismentioning

confidence: 99%

Hemophagocytic Lymphohistiocytosis

Ponnatt

Lilley

Mirza

2021

Archives of Pathology &Amp; Laboratory Medicine

View full text Add to dashboard Cite

Context.— Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening disorder of immune regulation that can eventually result in end-organ damage and death. HLH is characterized by uncontrolled activation of cytotoxic T lymphocytes, natural killer cells, and macrophages that can lead to a cytokine storm. The diagnosis of HLH is often challenging due to the diverse clinical manifestations and the presence of several diagnostic mimics. The prognosis is generally poor, warranting rapid diagnosis and aggressive management. Objective.— To provide a comprehensive review of the pathogenesis, clinical features, diagnosis, and management of HLH. Data Sources.— Peer-reviewed literature. Conclusions.— HLH is a condition where a complete understanding of the pathogenesis, early diagnosis, and proper management has an important role in determining patient outcome. Genetic mutations causing impairment in the function of cytotoxic T lymphocytes and natural killer cells have been identified as the root cause of familial HLH; however, the specific pathogenesis of acquired HLH is unclear. The HLH-2004 protocol used in the diagnosis of HLH was originally developed for the pediatric population. The HLH-2004 protocol still forms the basis of the diagnosis of HLH in adults, although its use in adults has not been formally validated yet. Treatment of HLH is primarily based on the HLH-94 protocol, which involves suppressing the inflammatory response, but the treatment needs to be modified in adults depending on the underlying cause and comorbidities.

show abstract

“…Disorders of lipid metabolism such as glutaric aciduria type IIC and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ( 13 ) or disorders of organic acid metabolism such as lysinuric protein intolerance (LPI) ( 19 , 20 , 35 ), methylmalonic acidemia ( 17 ), propionic acidemia ( 17 , 18 ) may be complicated by HLH. There are many other rare IEMs complicated by HLH that are also reported such as biotinidase deficiency ( 12 ), hepatolenticular degeneration ( 33 ), mevalonate kinase deficiency ( 30 , 31 ), pyrimidine deficiency ( 32 ), disorder of glycogen metabolism ( 14 , 15 ), prolidase deficiency ( 16 ) and cobalamin C disease ( 34 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC

Huang

Zhu

et al. 2022

Front. Immunol.

View full text Add to dashboard Cite

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.

show abstract

Hemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease

Abstract: Congenital metabolic diseases should be considered in the differential diagnosis of children with HLH.

Cited by 9 publications

References 11 publications

Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO)

Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO)

Hemophagocytic Lymphohistiocytosis

Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC

Contact Info

Product

Resources

About