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

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

JOURNAL OF CLINICAL MEDICINE(2024)

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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.
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Key words
hemophagocytic lymphohistiocytosis,ferritin,sepsis
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