Secondary Hemophagocytosis in Propionic Acidemia

Kasapkara, Çiğdem Seher; Kanğın, Murat; Ozmen, Banu Oflaz; Özbek, Mehmet Nuri; Demir, Remezan; Karataş, Mustafa; Tümer, Leyla; Ezgü, Fatih; Hasanoğlu, Alev

doi:10.5812/ijp.25(3)2015.339

Cited by 6 publications

(7 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Acquired HLH in PA has been reported earlier in younger children during metabolic crisis, with no evidence of infection (10,11). However, relapsing HLH has not been reported in organic acidemias, for example PA.…”

Section: Introductionmentioning

confidence: 91%

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy

Sulaiman

Shaheen

Alzaidan

et al. 2016

IRDR

View full text Add to dashboard Cite

Section: Introductionmentioning

confidence: 91%

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy

Sulaiman

Shaheen

Alzaidan

et al. 2016

IRDR

View full text Add to dashboard Cite

“…81,83,84 In contrast, the onset of HLH may sometimes precede the diagnosis of PA. 82 The majority of PA patients with HLH were successfully treated with immunochemotherapy. [81][82][83] The trigger, either a severe infection or the accumulation of toxic metabolites, is thought to suppress the function of NK cells and CTL, resulting in HLH. 84 Gaucher disease is also linked to HLH.…”

Section: Other Iemsmentioning

confidence: 99%

Rare diseases presenting with hemophagocytic lymphohistiocytosis

Kanegane

Noguchi

Yamada

et al. 2023

Pediatrics International

View full text Add to dashboard Cite

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.

show abstract

“…12 Pathophysiology of each of these complications is not well understood. Studying the prevalent complications that have been assessed in cohort studies and calculating the weighted percentage based on sample size of the cohort studies (Figure 1, Supplementary Table 1 [ST1]) [13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] revealed that in PA, hepatomegaly and/or a hyperechoic liver, cognitive deficits and anemia, psychomotor retardation and muscular hypotonia are the five most prevalent complications. In MMA, the five most prevalent complications are joint hypermobility, pes planus, cognitive deficits, enamel defects and psychomotor retardation.…”

Section: Complicationsmentioning

confidence: 99%

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Haijes

Jans

Tas

et al. 2019

J of Inher Metab Disea

127

View full text Add to dashboard Cite

Over the last decades, advances in clinical care for patients suffering from propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) have resulted in improved survival. These advances were possible thanks to new pathophysiological insights. However, patients may still suffer from devastating complications which largely determine the unsatisfying overall outcome. To optimize our treatment strategies, better insight in the pathophysiology of complications is needed. Here, we perform a systematic data‐analysis of cohort studies and case‐reports on PA and MMA. For each of the prevalent and rare complications, we summarize the current hypotheses and evidence for the underlying pathophysiology of that complication. A common hypothesis on pathophysiology of many of these complications is that mitochondrial impairment plays a major role. Assuming that complications in which mitochondrial impairment may play a role are overrepresented in monogenic mitochondrial diseases and, conversely, that complications in which mitochondrial impairment does not play a role are underrepresented in mitochondrial disease, we studied the occurrence of the complications in PA and MMA in mitochondrial and other monogenic diseases, using data provided by the Human Phenotype Ontology. Lastly, we combined this with evidence from literature to draw conclusions on the possible role of mitochondrial impairment in each complication. Altogether, this review provides a comprehensive overview on what we, to date, do and do not understand about pathophysiology of complications occurring in PA and MMA and about the role of mitochondrial impairment herein.

show abstract

Secondary Hemophagocytosis in Propionic Acidemia

Cited by 6 publications

References 7 publications

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy

Rare diseases presenting with hemophagocytic lymphohistiocytosis

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Contact Info

Product

Resources

About