A Rare Case of Glycogen Storage Disease Type 1a Presenting with Hemophagocytic Lymphohistiocytosis (HLH)

Saneifard, Hedyeh; Shamsian, Bibishahin; Shakiba, Marjan; Zarea, Simin Karizi; Sheikhy, Ali

doi:10.1155/2020/8818617

Cited by 4 publications

(4 citation statements)

References 13 publications

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“…93 Hemophagocytic lymphohistiocytosis has been found in two infants with glycogen storage disease (GSD) type IA. 94,95 Following HLH treatment and remission, they were diagnosed with GSD Ia. One case of GSD IV with HLH has also been reported.…”

Section: Other Iemsmentioning

confidence: 99%

“…Other IEMs associated with HLH have been reported (Table 5). 81–103 Propionic acidemia (PA) and Gaucher disease (GD) are relatively common causes of HLH. Two cases of PA and one case of methylmalonic aciduria (MMA) with HLH were reported by Gokce, et al 81 Three patients received immunochemotherapy, but the patient with MMA died as a result of multiple organ failure.…”

Section: Introductionmentioning

confidence: 99%

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Rare diseases presenting with hemophagocytic lymphohistiocytosis

Kanegane

Noguchi

Yamada

et al. 2023

Pediatrics International

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Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory disorder characterized by hypercytokinemia caused by excessive activation of cytotoxic T cells and macrophages. HLH is caused by a variety of factors and is classified into primary and secondary HLH. Familial HLH (FHL) types 1–5, X‐linked lymphoproliferative syndrome types 1 and 2, and FHL syndrome with hypopigmentation are all examples of primary HLH. Secondary HLH, on the other hand, is linked to infections, malignant tumors, autoimmune diseases, and other diseases. The causes of HLH vary, and finding the underlying disease is critical for diagnosis and treatment. The majority of HLH is caused by the aforementioned conditions; however, approximately 10% of cases are caused by rare diseases such as inborn errors of immunity (IEI) and inborn errors of metabolism (IEM). Novel IEI, such as RhoG, MAP kinase activating death domain, TIM3, and ZNFX1 deficiencies, have recently been identified as causes of HLH. IEM patients are rarely associated with HLH. Surprisingly, children with lysinuric protein intolerance and lysosomal acid lipase deficiency (Wolman disease) frequently develop HLH. This review focuses on the most recent knowledge of HLH caused by rare diseases such as IEI and IEM.

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Section: Other Iemsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Rare diseases presenting with hemophagocytic lymphohistiocytosis

Kanegane

Noguchi

Yamada

et al. 2023

Pediatrics International

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“…Traditionally, HLH has been classified into primary hemophagocytic lymphohistiocytosis (pHLH) and secondary hemophagocytic lymphohistiocytosis (sHLH) ( 3 ). pHLH occurs mainly in the presence of an underlying predisposing genetic defect in immune function, and sHLH may be triggered by infections ( 4 , 5 ), malignancies ( 6 ), rheumatic diseases ( 7 , 8 ), transplants ( 9 ), and metabolic diseases ( 10 ). HLH is primarily seen in children, accounting for approximately 60% of all cases ( 11 ).…”

Section: Introductionmentioning

confidence: 99%

Low total cholesterol predicts early death in children with hemophagocytic lymphohistiocytosis

Xiao

Xu²,

Zhang³

et al. 2023

Front. Pediatr.

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BackgroundHemophagocytic lymphohistiocytosis (HLH) is a rapidly progressive and potentially life-threatening disorder. Identifying risk factors and timely adjustment of the given treatment regimens is critical to reducing the early mortality in HLH patients. Hypocholesterolemia has been reported to be associated with poor prognosis in a variety of critical illnesses. However, serum cholesterol is rarely studied in HLH patients, and its prognostic value is unclear.MethodsWe conducted a retrospective cohort study in National Clinical Research Center for Child Health and Disorders (Chongqing), identifying pediatric HLH patients (including genetically confirmed pHLH and not genetically confirmed pHLH) diagnosed with the HLH-2004 protocol and treated with immunochemotherapy between January 2008 and December 2020. The patients' blood lipid levels at initial diagnosis of HLH, including triglycerides (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein-cholesterol (LDL-C), were reviewed based on electronic medical records. Both Cox and logistic regression models were used to estimate the effects of blood lipid indicators on early death (within 30 days after diagnosis).ResultsA total of 353 patients were enrolled in the study, with a median age at diagnosis of 45 months. The observed 30-day mortality rate was 19.05% (64/336, 17 were lost to follow-up) and Kaplan-Meier-estimated 3-year survival rate was 61.67% (95% CI, 56.27%–67.59%). DNA-targeted sequencing of HLH-related genes was performed in 173 (49.0%, 173/353) patients (not all patients with suspected pHLH underwent genetic testing), and 29 patients were diagnosed with genetically confirmed pHLH. Lipid panel was performed in 349 patients: 91.98% (321/349) had TG ≥ 1.80 mmol/L, 62.75%(219/349) had TG ≥ 3.00 mmol/L, 92.84% (324/349) had HDL-C ≤ 1.04 mmol/L, 58.74% (205/349) had LDL-C ≤ 1.30 mmol/L and 24.64% (86/349) had TC ≤ 3.11 mmol/L. TC ≤ 3.11 mmol/L and BUN ≥ 7.14 mmol/L were the independent risk factors for 30-day mortality [HR(95%CI): 2.85(1.46, 5.57) and 2.90(1.48, 5.68), respectively]. The presence of one of these risk factors increased the 30-day mortality rate by 6-fold [HR = 6.24, 95%CI: (3.18, 12.22)] and the presence of two risk factors by nearly 10-fold [HR = 9.98, 95%CI: (4.23, 23.56)] compared with the patients with no risk factors.ConclusionSevere derangement of lipoproteins is common in children with HLH, and decreased TC is an independent risk factor for early death. Hypocholesterolemia should be included as a biomarker during the diagnosis and management of HLH patients.

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“…Hemophagocytic Lymphohistiocytosis (HLH) is a rare and serious hyperinflammatory disease that can rapidly progress and become life-threatening if left undiagnosed and untreated. HLH is usually divided into primary hemophagocytic lymphohistiocytosis (pHLH) and secondary hemophagocytic lymphohistiocytosis (sHLH) [ 1 ]。pHLH occurs primarily in the setting of an underlying genetic defect in immune function, whereas sHLH may be triggered by events such as infections [ 2 , 3 ]、malignancies [ 4 ]、rheumatic diseases [ 5 , 6 ]、transplantation [ 7 ]and metabolic disorders [ 8 ]. The main clinical manifestations of HLH include persistent fever, mono/multilineage hemocytopenia, hepatosplenomegaly, hyperferritinemia, hepatic impairment, and hematophagocytosis [ 9 ]。…”

Section: Introductionmentioning

confidence: 99%