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Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation
- Source :
- European journal of pediatrics. 173(10)
- Publication Year :
- 2014
-
Abstract
- The lysosomal acid lipase (LAL) is the enzyme responsible of the hydrolysis of cholesteryl esters and triglycerides within endo-lysosomes. Loss of enzyme activity leads to accumulation of cholesteryl esters and triglycerides in the lysosome of most tissues. The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with vomiting, diarrhea, failure to thrive, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition which may be genetically determined or secondary to infections, malignancies, immune deficiencies, and rheumatologic disorders. So far, some inborn errors of metabolism have been associated with HLH (e.g., lysinuric protein intolerance, Gaucher’s disease), and it has been anecdotally described in three WD patients, without any specific pathogenetic hypothesis. Here, we report on a WD patient, showing clear clinical, biochemical, and histological features indicative of HLH. We discuss the pathophysiological role of cholesteryl ester-induced inflammasome activation in macrophages, leading to a secondary HLH. Conclusion: This case indicates that WD can cause secondary HLH and suggests that a careful metabolic workup should be performed when facing to a pediatric patient with HLH.
- Subjects :
- Hemophagocytic lymphohistiocytosis
Systemic disease
business.industry
Anemia
Inflammasomes
Hepatosplenomegaly
Wolman Disease
Infant
Disease
Jaundice
medicine.disease
Lysinuric protein intolerance
Lymphohistiocytosis, Hemophagocytic
Fatal Outcome
hemic and lymphatic diseases
Pediatrics, Perinatology and Child Health
Immunology
Failure to thrive
medicine
Humans
Female
Cholesterol Esters
medicine.symptom
business
Biomarkers
Subjects
Details
- ISSN :
- 14321076
- Volume :
- 173
- Issue :
- 10
- Database :
- OpenAIRE
- Journal :
- European journal of pediatrics
- Accession number :
- edsair.doi.dedup.....fe362fd498cff48f164b5ffa7eb9a1ef