Exogenous lipoid pneumonia in children: A systematic review

Marangu, Diana; Gray, Diane; Vanker, Aneesa; Zampoli, Marco

doi:10.1016/j.prrv.2019.01.001

Cited by 15 publications

(20 citation statements)

References 41 publications

(73 reference statements)

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“…PICG typically appears in the setting of lipoid pneumonia with or without pulmonary alveolar proteinosis [14]. Exogenous lipoid pneumonia results from inhalation or aspiration of mineral, plant or animal-based oils, and/or ascending aspiration of such oils in the setting of gastroesophageal reflux [15,16] . In this case, there was no history suggestive of exogenous oil aspiration or gastroesophageal reflux.…”

Section: Discussionmentioning

confidence: 99%

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

et al. 2020

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Background Heme oxygenase-1 (HMOX1) catalyzes the metabolism of heme into carbon monoxide, ferrous iron, and biliverdin. Through biliverdin reductase, biliverdin becomes bilirubin. HMOX1-deficiency is a rare autosomal recessive disorder with hallmark features of direct antibody negative hemolytic anemia with normal bilirubin, hyperinflammation and features similar to macrophage activation syndrome. Clinical findings have included asplenia, nephritis, hepatitis, and vasculitis. Pulmonary features and evaluation of the immune response have been limited. Case presentation We present a young boy who presented with chronic respiratory failure due to nonspecific interstitial pneumonia following a chronic history of infection-triggered recurrent hyperinflammatory flares. Episodes included hemolysis without hyperbilirubinemia, immunodeficiency, hepatomegaly with mild transaminitis, asplenia, leukocytosis, thrombocytosis, joint pain and features of macrophage activation with negative autoimmune serologies. Lung biopsy revealed cholesterol granulomas. He was found post-mortem by whole exome sequencing to have a compound heterozygous paternal frame shift a paternal frame shift HMOX1 c.264_269delCTGG (p.L89Sfs*24) and maternal splice donor HMOX1 (c.636 + 2 T > A) consistent with HMOX1 deficiency. Western blot analysis confirmed lack of HMOX1 protein upon oxidant stimulation of the patient cells. Conclusions Here, we describe a phenotype expansion for HMOX1-deficiency to include not only asplenia and hepatomegaly, but also interstitial lung disease with cholesterol granulomas and inflammatory flares with hemophagocytosis present in the bone marrow.

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Section: Discussionmentioning

confidence: 99%

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

et al. 2020

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“…PICG typically appears in the setting of lipoid pneumonia with or without pulmonary alveolar proteinosis (12). Exogenous lipoid pneumonia results from inhalation or aspiration of mineral, plant or animal-based oils, and/or ascending aspiration of such oils in the setting of gastroesophageal reflux (13,14). In this case, there was no history suggestive of exogenous oil aspiration or gastroesophageal reflux.…”

Section: Discussionmentioning

confidence: 90%

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

Chau¹,

Cole

Debley³

et al. 2020

Preprint

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Background Heme oxygenase-1 (HMOX1) catalyzes the metabolism of heme into carbon monoxide, ferrous iron, and biliverdin. Through biliverdin reductase, biliverdin becomes bilirubin. HMOX1 -deficiency is an exceedingly rare autosomal recessive disorder with hallmark features of direct antibody negative hemolytic anemia with normal bilirubin, hyperinflammation and features indicating hemophagocytosis lymphohistiocytosis. Clinical findings have included asplenia, nephritis, hepatitis, and evidence of vasculitis. Pulmonary features and evaluation of the immune response have been limited. Results Here, we present the fifth reported case in literature of a young boy who remarkably also presented with chronic respiratory failure due to nonspecific interstitial pneumonia in addition to infection-triggered recurrent hyperinflammatory flares notable for hemolysis without hyperbilirubinemia, immunodeficiency, hepatomegaly with mild transaminitis, asplenia, leukocytosis, thrombocytosis, joint pain and features of macrophage activation with negative autoimmune serologies. Lung biopsy revealed cholesterol granulomas. He was found post-mortem by whole exome sequencing to have a compound heterozygous paternal frame shift a paternal frame shift HMOX1 c.264delCTGG (p.L89Sfs*24) and maternal splice donor HMOX1 (c.636+2 T>A) consistent with HMOX1 deficiency. Western blot analysis confirmed lack of HMOX1 protein upon oxidant stimulation of the patient cells. Conclusions Here, we describe a phenotype expansion for HMOX1-deficiency to include not only asplenia and hepatomegaly, but also interstitial lung disease with cholesterol granulomas and inflammatory flares with hemophagocytosis present in the bone marrow.

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“…The biopsy should be carefully analysed [78] because, for example, electron microscopy of lamellar bodies may point to a diagnosis of specific SP mutations. It is important to distinguish PAP from exogenous and other lipoid pneumonias, for example, due to aspiration of oily laxatives [79]. Finally, as in every respiratory disease that is atypical, consider whether it could be the result of vaping [80], which has been described as causing lipoid pneumonia [81][82][83][84].…”

Section: Is Pap the Underlying Cause Of The Symptoms?mentioning

confidence: 99%

Pulmonary alveolar proteinosis in children

Bush

Pabary

2020

Breathe

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Pulmonary alveolar proteinosis (PAP) is an umbrella term for a wide spectrum of conditions that have a very characteristic appearance on computed tomography. There is outlining of the secondary pulmonary lobules on the background of ground-glass shadowing and pathologically, filling of the alveolar spaces with normal or abnormal surfactant. PAP is rare and the common causes in children are very different from those seen in adults; autoimmune PAP is rare and macrophage blockade not described in children. There are many genetic causes of PAP, the best known of which are mutations in the genes encoding surfactant protein (SP)-B, SP-C, thyroid transcription factor 1, ATP-binding cassette protein 3, and the granulocyte–macrophage colony-stimulating factor (GM-CSF) receptor α- and β- chains. PAP may also be a manifestation of rheumatological and metabolic disease, congenital immunodeficiency, and haematological malignancy. Precise diagnosis of the underlying cause is essential in planning treatment, as well as for genetic counselling. The evidence base for treatment is poor. Some forms of PAP respond well to whole-lung lavage, and autoimmune PAP, which is much commoner in adults, responds to inhaled or subcutaneous GM-CSF. Emerging therapies based on studies in murine models of PAP include stem-cell transplantation for GM-CSF receptor mutations.Educational aimsTo understand when to suspect that a child has pulmonary alveolar proteinosis (PAP) and how to confirm that this is the cause of the presentation.To show that PAP is an umbrella term for conditions characterised by alveolar filling by normal or abnormal surfactant, and that this term is the start, not the end, of the diagnostic journey.To review the developmental differences in the spectrum of conditions that may cause PAP, and specifically to understand the differences between causes in adults and children.To discuss when to treat PAP with whole-lung lavage and/or granulocyte–macrophage colony-stimulating factor, and review potential promising new therapies.

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Exogenous lipoid pneumonia in children: A systematic review

Cited by 15 publications

References 41 publications

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

Pulmonary alveolar proteinosis in children

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