European Journal of Pediatrics

, Volume 173, Issue 10, pp 1391–1394 | Cite as

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation

  • Roberta Taurisano
  • Arianna Maiorana
  • Fabrizio De Benedetti
  • Carlo Dionisi-Vici
  • Renata Boldrini
  • Federica DeodatoEmail author
Short Communication


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.


Wolman disease Hemophagocytic lymphohistiocytosis Cholesterol crystal Inflammasome 


Conflict of interest

No conflicts of interest exist for any of the authors.


Any authors have not received financial support for this study.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Roberta Taurisano
    • 1
  • Arianna Maiorana
    • 1
  • Fabrizio De Benedetti
    • 2
  • Carlo Dionisi-Vici
    • 1
  • Renata Boldrini
    • 3
  • Federica Deodato
    • 1
    Email author
  1. 1.Division of Metabolism, Department of Pediatric Medicine, Bambino Gesu’ Children’s HospitalIRCCSRomeItaly
  2. 2.Division of Rheumatology, Department of Pediatric MedicineIRCCSRomeItaly
  3. 3.Pathology Unit, Bambino Gesu’ Children’s HospitalIRCCSRomeItaly

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