Turkish Archives of Pediatrics
Original Article

Clinical, Genetic, and Outcome Characteristics of Pediatric Patients with Primary Hemophagocytic Lymphohistiocytosis

1.

Department of Pediatric Allergy and Immunology, İstanbul Medipol University, Faculty of Medicine, İstanbul, Turkey

2.

Department of Pediatric Hematology and Oncology, İstanbul Medipol University, Faculty of Medicine, İstanbul, Turkey

3.

Department of Pediatric Bone Marrow Transplant Unit, İstanbul Medipol University, Faculty of Medicine,İstanbul, Turkey

4.

Department of Pediatric Allergy and Immunology, İstanbul University, Cerrahpaşa Medical Faculty, İstanbul, Turkey

5.

Department of Pediatric Infectious Diseases, Ümraniye Training and Research Hospital, University of Health Science, İstanbul, Turkey

6.

Department of Pediatric Neurology, İstanbul Medipol University, Faculty of Medicine, İstanbul, Turkey

7.

Department of Medical Genetics, İstanbul Medipol University, Faculty of Medicine,İstanbul, Turkey

8.

Department of Pediatric Intensive Care, İstanbul Medipol University, Faculty of Medicine, İstanbul, Turkey

Turk Arch Pediatr 2022; 57: 398-405
DOI: 10.5152/TurkArchPediatr.2022.21314
Read: 54 Downloads: 20 Published: 01 July 2022

Objective: In this study, we sought to describe the clinical, laboratory, and genetic character- istics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophago- cytic lymphohistiocytosis patients.

Materials and Methods: Medical records of 9 patients diagnosed with primary hemophago- cytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retro- spectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated.

Results: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was per- formed in 7 (78%) patients.

Conclusion: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoi- etic stem cell transplantation as soon as they reach the disease remission.

Cite this article as: Nepesov S, Yaman Y, Elli M, et al. Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis. Turk Arch Pediatr. 2022;57(4):398-405.

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