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Prolonged course of familial hemophagocytic lymphohistiocytosis

Orna Steinberg1, Joanne Yacobovich, Orly Dgany

  • 1Department of Pediatrics A, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.

Journal of Pediatric Hematology/Oncology
|December 14, 2006
PubMed

Insights

Familial hemophagocytic lymphohistiocytosis (HLH) is a rare, fatal condition. A 10-year-old boy with a PRF1 gene mutation achieved cure through the HLH-2004 protocol and bone marrow transplant, highlighting disease heterogeneity.

Area of Science:

  • Pediatric Hematology
  • Immunology
  • Genetics

Background:

  • Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, life-threatening genetic disorder.
  • Typically diagnosed within the first two years of life, FHL presents with uncontrolled immune activation.
  • Untreated FHL leads to rapid fatality due to cytokine storm and organ damage.

Observation:

  • A 10-year-old boy presented with a prolonged 9-year history of fever and hepatosplenomegaly.
  • The patient was diagnosed with FHL type 2, confirmed by homozygosity for a PRF1 gene mutation.
  • This presentation is atypical, occurring significantly later than the usual pediatric diagnosis window.

Findings:

  • The patient received treatment according to the HLH-2004 protocol.
  • Successful allogeneic bone marrow transplantation was performed.
  • The patient achieved a cure, indicating the efficacy of the treatment protocol in this late-presenting case.

Implications:

  • This case underscores the significant clinical heterogeneity of FHL.
  • Late-onset FHL is possible and requires consideration in differential diagnoses.
  • Aggressive treatment, including bone marrow transplantation, can be curative even in atypical presentations.

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