HLH diagnostic checklist icon

Diagnosing HLH

For patients with HLH, prompt diagnosis is crucial

Hemophagocytic lymphohistiocytosis (HLH) is heterogeneous, rapidly progressive, and can be fatal if untreated. It’s critical to ensure that patients are diagnosed as soon as possible.1

It’s also essential to identify any underlying triggers that can be associated with the development of HLH in patients.1

These potential triggers can include1:
Genetic abnormalities
Rheumatologic diseases

The presence or absence of certain triggers will influence the management strategies you will pursue.2

Diagnosing primary HLH

There are 3 recognized options for making a possible diagnosis of primary HLH. These options include3:

HLH-2004 diagnostic criteria icon

The fulfillment of 5 of the 8 HLH-2004 criteria in the absence of an underlying cause, such as malignancy.

Genetic testing for HLH icon

A positive genetic test for mutations associated with primary HLH.

Family history of HLH icon

Family history consistent with primary HLH.

It can be challenging to navigate the diagnostic process while also trying to manage a patient’s condition. Explore the sections below for some guidance that you may find helpful.

View this flash card for information about differential diagnosis between HLH and another condition that can mimic its presentation: sepsis.

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References: 1. Jordan MB, Allen CE, Weitzman S, Filipovich AH, McClain KL. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011;118(15):4041-4052. doi:10.1182/blood-2011-03-278127 2. George MR. Hemophagocytic lymphohistiocytosis: review of etiologies and management. J Blood Med. 2014;5:69-86. doi:10.2147/JBM.S46255 3. Henter JI, Horne A, Aricó M, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-131. doi:10.1002/pbc.21039