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Review
. 2024 Mar 13;13(6):1643.
doi: 10.3390/jcm13061643.

Diagnostic Challenges in Hemophagocytic Lymphohistiocytosis, a Rare, Potentially Fatal Disease: Two Case Studies

Marcela Daniela Ionescu  1   2 , Bianca Prajescu  2 , Roxana Taras  1   2 , Nicoleta Popescu  2 , Ruxandra Vidlescu  2 , Mihaela Smarandoiu  2 , Loredana-Elena Rosca  2 , Augustina Enculescu  2 , Elena Camelia Berghea  1   2 , Claudia Lucia Toma  3   4
Affiliations
Review

Diagnostic Challenges in Hemophagocytic Lymphohistiocytosis, a Rare, Potentially Fatal Disease: Two Case Studies

Marcela Daniela Ionescu et al. J Clin Med. .

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare, and potentially fatal, syndrome, characterized by immune system dysregulation, with excessive activation of the macrophages and cytotoxic T cells. It can be classified into primary (genetic) and secondary (acquired) forms. HLH presents with fever, hepatosplenomegaly, cytopenia, and hyperferritinemia, with involvement of various organs. The initial symptoms of HLH are non-specific, but as, if untreated, it can progress rapidly to multiorgan failure, timely diagnosis is essential. We present here two cases of HLH in infants that illustrate the importance of early diagnosis and appropriate treatment, along with a short review of HLH.

Keywords: ferritin; hemophagocytic lymphohistiocytosis; sepsis.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 2
Figure 2
HLH-2004 treatment scheme for hemophagocytic lymphohistiocytosis (adapted from Sun Young Park et al. [47]). DEXA: dexamethasone at an initial dose of 10 mg/m2, daily, followed by halving of the dosage every two weeks; VP-16: etoposide, administered twice weekly in the first two weeks, and once a week thereafter, at a dose of 150 mg/m2 or 5 mg/kg for children weighing < 10 kg; CSA: cyclosporine A at a dose of 6 mg/kg/day; IT: intrathecal therapy * if CNS involved with MTX: methotrexate or HC: hydrocortisone must be started, <1 year—6 mg MTX and 8 mg HC, 1–2 years—8 mg MTX and 10 mg HC, 2–3 years—10 mg MTX and 12 mg HC, >3 years—12 mg MTX and 15 mg HC.
Figure 1
Figure 1
HLH-94 treatment scheme for hemophagocytic lymphohistiocytosis (adapted from Jordan et al. [32]). DEXA: dexamethasone, at an initial dose of 10 mg/m2, daily, followed by halving of the dosage every two weeks; VP-16:etoposide, administered twice weekly in the first two weeks, and once a week thereafter, at a dose of 150 mg/m2 or 5 mg/kg for children weighing < 10 kg; IT: intrathecal treatment, * in the case of CNS involvement, with –methotrexate (MTX) or –hydrocortisone (HC), in dosages of: <1 year—6 mg MTX and 8 mg HC, 1–2 years—8 mg MTX and 10 mg HC, 2–3 years—10 mg MTX and 12 mg HC, >3 years—12 mg MTX and 15 mg HC.
Figure 3
Figure 3
A 15-month-old female infant with hemophagocytic lymphohistiocytosis: pulmonary X-ray showing massive opacity of the right hemithorax, consolidation of the left upper lobe, left perihilar infiltrate.
Figure 4
Figure 4
A 15-month-old female infant with hemophagocytic lymphohistiocytosis: thoracic ultrasound showing right-sided pleurisy in medium quantity—2.5 cm.
Figure 5
Figure 5
A 15-month-old female infant with hemophagocytic lymphohistiocytosis: spleen biopsy (hematoxylin and eosin, 400×), showing signs of splenic sinusoidal hemophagocytosis (arrow).
Figure 6
Figure 6
A 15-month-old female infant with hemophagocytic lymphohistiocytosis: liver biopsy (hematoxylin and eosin, 400×), showing signs of sinusoidal hemophagocytosis (arrow).
See this image and copyright information in PMC

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