Haemophagocytic lymphohistiocytosis: a case series from Mumbai

Abstract

A retrospective review of ten patients (8 girls, 2 boys) admitted over a 9-month period with haemophagocytic lymphohistiocytosis (HLH) is presented. Presenting features included fever and hepatosplenomegaly (10), bleeding manifestations (7), lymphadenopathy (4), skin rash (4), shock (4), jaundice (3), CNS disorder (3), renal failure (2) and arthritis (2). Three infants had familial HLH (FHL) while the other seven patients had acquired (secondary) HLH. Two patients with FHL had very low perforin levels (0 and 0.05%). There was secondary HLH owing to systemic onset juvenile idiopathic arthritis in two patients, and one each had anaplastic large cell lymphoma, measles with pneumonia, disseminated tuberculosis, dengue hemorrhagic fever and lymphoproliferative disorder. Cytopenia affecting two or three lineages in peripheral blood was present in all while haemophagocytosis in bone marrow was documented in nine patients .Other important laboratory parameters were raised ferritin (9), raised LDH (9), hypertriglyceridaemia (7) and hypofibrinogenaemia (5). The patients were treated according to the HLH2004 protocol. Diagnosis of HLH should be considered early in patients presenting with unremitting fever, hepatosplenomegaly and cytopenias as without appropriate treatment HLH is usually fatal.

Clinical characteristics, prognostic factors, and outcomes of adult patients with hemophagocytic lymphohistiocytosis

“…Patients typically present with fever, cytopenias, and hyperferritinemia, and their disease course often results in endorgan damage. Other clinical presentations for HLH include hepatosplenomegaly, hypertriglyceridemia, liver dysfunction, coagulation disorders, rash, and renal insufficiency [2][3][4]. The pathognomonic feature of this syndrome is the presence of hemophagocytosis (hence the name hemophagocytic lymphohistiocytosis) in bone marrow, lymph nodes, spleen, or liver [5].…”

Four-Month-Old Boy With Fever, Hepatosplenomegaly and Diffuse Pulmonary Infiltrations

“…IL-2Rɤ common chain (X-linked T-B+ NK-SCID), the probable type of immunodeficiency in this patient, is thought to be associated with HLH (13). There are recent reports of coincidence of HLH and disseminated or complicated tuberculosis infection (14,15). This patient seems to have disseminated BCG-osis and T-B+ NK-SCID immunodeficiency and HLH syndrome.…”

Haemophagocytic lymphohistiocytosis

“…2 In India HLH is under-reported and associated with a high mortality. 2,5,6,8,12 In a large series of HLH patients from south India, 8 the authors have noted less mortality and have attributed this to a high incidence of secondary HLH, early diagnosis and early institution of immunomodulatory treatment.…”