Occurrence of haemophagocytic lymphohistiocytosis at less than 1 year of age: analysis of 96 patients

Abstract

These data may provide useful information for neonatologists/ paediatricians in the differential diagnosis of haemophagocytic lymphohistiocytosis in early infancy.

Hemophagocytic Lymphohistiocytosis Associated with Cytomegalovirus Infection in an Immunocompetent Infant: A Diagnostic and Therapeutic Challenge!

“…FHL and sHLH both present with clinically indistinguishable features. Patients with FHL generally show reduced NK activity, perforin deficiency and persistent or recurring HLH [2,4]; although the same was not seen in our case. Moreover, our patient responded to only two drugs (dexamethasone and etoposide) and disease is in remission, without relapse for 12 months after treatment was completed.…”

“…There was no family history suggestive of FHL in the patient. Still, FHL cannot be ruled out in this case; as the patient's age favours it, family history can be negative in FHL as the disease follow recessive pattern and genetic investigations for excluding FHL (PRF1, UNC13D, STX11 or STXBP2) could not be done because of lack of availability [1][2][3][4]. Considering all these points, CMV induced secondary HLH was thought, at the same time, possibility of FHL could not be ruled out.…”

“…Mutations in the genes encoding for perforin (PRF1), UNC13D, Munc18/2, syntaxin 11 (STX-11), syntaxin binding protein 2, (STXBP2) were identified in association with familial HLH (FHL) [1][2][3]. Secondary HLH (sHLH) was seen in association with viral (most frequent cause), bacterial, fungal, or parasitic infections, malignancy or rheumatoid disorder [1][2][3][4]. Viral infections, especially Epstein-Barr virus (EBV) may precipitate sHLH as well as FHL [2][3][4].…”

“…Secondary HLH (sHLH) was seen in association with viral (most frequent cause), bacterial, fungal, or parasitic infections, malignancy or rheumatoid disorder [1][2][3][4]. Viral infections, especially Epstein-Barr virus (EBV) may precipitate sHLH as well as FHL [2][3][4]. Herein, we describe a rare case of HLH associated with cytomegalovirus infection in an immunocompetent infant.…”

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“…The Chediak-Higashi syndrome (CHS 1), Griscelli syndrome (GS 2), Hermansky-Pudlak syndrome (HPS) and X linked proliferative syndrome (XLP) are primary immune deficiencies having distinctive clinical features besides the recurrent primary HLH. [2][3][4] However, HLH is, often, an acquired or secondary syndrome which can occur in all age groups. Infection-associated HLH could be triggered by various agents such as viruses of the herpes group, especially Epstein-Barr virus (EBV) and cytomegalovirus (CMV) or by no viral agents such as Leishmania.…”