Hemophagocytic lymphohistiocytosis in Egyptian children: diagnosis, treatment challenges, and outcome.
Expert Rev Hematol
; 17(4-5): 153-163, 2024.
Article
em En
| MEDLINE
| ID: mdl-38597207
ABSTRACT
BACKGROUND:
Hemophagocyticlymphohistiocytosis (HLH) is a spectrum of immune activation which could be genetically determined, or secondary to an underlying illness. Our aim was to present the clinico-genetic aspects of HLH among Egyptian children and to evaluate the patterns of reactivation and outcome with illustrations of overlap manifestations. RESEARCH DESIGNANDMETHODS:
We retrospectively collected the data of 55 patients with HLH, registered at Ain Shams University Children's Hospital,Cairo, Egypt.RESULTS:
Median age at diagnosis was 19 months (range 2-180), 33 patients (60%) fulfilled the diagnostic HLH criteria at presentation. Fourteen (25.45%) patients had secondary HLH, 15 (27.27%) patients had genetically documented familial HLH (11 had variants in UNC13D gene and one in PRF1 gene), 3 had Griscelli and Chediak-Higashi syndromes. Sixteen patients (29.1%) had reactivations, 8 (50%) of them had molecularly confirmed HLH. We report the death of 40 patients, the median duration from the diagnosis to death of 5 months mostly due to disease activity.CONCLUSIONS:
This study confirms that the nonspecific signs and symptoms of HLH are challenging. Genetic testing, though expensive and sophisticated, is integral for the diagnosis. The difficulty in finding non-related donors for stem cell transplantation and the early reactivations are the causes of the inferior outcome.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linfo-Histiocitose Hemofagocítica
Limite:
Adolescent
/
Child
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Child, preschool
/
Female
/
Humans
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Infant
/
Male
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article