/HLH-Hemophagocytic LymphostoCytosis

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Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease

of normal but overactive histiocytes and lymphocytes that commonly appears in

infancy, although it has been seen in all age groups. Fever, hepatosplenomegaly,

pancytopenia, lymphadenopathy, and rash often comprise the initial presentation.

Cutaneous involvement occurs in as many as 65% of patients.[1] Varied skin

manifestations of hemophagocytic lymphohistiocytosis are noted, including

erythroderma, generalized purpuric macules and papules, and morbilliform

eruptions. Detection of cutaneous involvement can assist in the initial

diagnosis of hemophagocytic lymphohistiocytosis and potentially signify

recurrences.

Primary hemophagocytic lymphohistiocytosis (ie, familial erythrophagocytic

lymphohistiocytosis [FEL]), an inherited form of hemophagocytic

lymphohistiocytosis syndrome, is a heterogeneous autosomal recessive disorder

found to be more prevalent with parental consanguinity. Secondary hemophagocytic

lymphohistiocytosis (ie, acquired hemophagocytic lymphohistiocytosis) occurs

after strong immunologic activation, such as that which can occur with systemic

infection, immunodeficiency, or underlying malignancy. Both forms are

characterized by the overwhelming activation of normal T lymphocytes and

macrophages, invariably leading to clinical and hematologic alterations and

death in the absence of treatment.[2]

The history of this disorder, its molecular basis, and treatment options are

noteworthy.[3] Almost 60 years has passed since ish pediatricians

Farquhar and Albert aux, both of the University of Edinburgh, noticed the

familial recurrence of this disorder affecting male and female siblings aged 2

months, causing fever, cytopenia, hepatosplenomegaly, and rapidly death despite

treatment with antibiotics and steroids.[4]

CDC information below on HLH-http://www.cdc.gov/ncidod/eid/vol6no6/fisman.htm