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Two cases of suspected familial erythrophagocytic lymphohistiocytosis
Insights
Familial erythrophagic lymphohistiocytosis (FEL) is a rare, fatal condition. This study found viral particles in affected tissues, suggesting an inflammatory response defect in children with FEL.
Area of Science:
- Pediatric Pathology
- Immunology
- Infectious Diseases
Background:
- Familial erythrophagic lymphohistiocytosis (FEL) is a severe, often fatal, genetic disorder.
- It is characterized by uncontrolled activation of immune cells, leading to tissue damage.
Observation:
- Two young male relatives presented with symptoms including fever, pulmonary infiltrates, and neurological compromise.
- Histological examination revealed widespread infiltration by atypical mononuclear cells with foamy cytoplasm in multiple organs.
- Ocular findings included diffuse choroidal infiltrates.
Findings:
- Histologic changes were consistent with FEL across both cases.
- Herpes simplex virus particles were identified in the brain tissue of the second patient.
- The presence of viral particles in a histiocytic proliferative disease suggests a potential link to immune dysregulation.
Implications:
- These findings suggest that viral infections may trigger or exacerbate FEL in genetically susceptible individuals.
- A defect in the inflammatory response may predispose these patients to severe outcomes.
- Further research into the interplay between genetics, viral triggers, and immune response is warranted for FEL.
Abstract:
We studied two children who died of suspected familial erythrophagic lymphohistiocytosis. The first child, a 7-year-old boy, had fever, diffuse pulmonary infiltrates, bilateral choroidal effusions, diabetes insipidus, and marked meningitis with increased cerebrospinal fluid protein. Ocular histologic studies disclosed diffuse choroidal infiltrates consisting of atypical mononuclear cells with foamy cytoplasm. Similar histologic changes were seen in the lungs, liver, brain, and kidneys. The second child, the 5-year-old male cousin of Patient 1, had fever, hepatosplenomegaly, pulmonary infiltrates, and cerebrospinal fluid pleocytosis. Histologic changes were similar to those in the first case, but viral particles of the herpes simplex virus group were noted in brain tissue as well. The findings of virus particles in this histiocytic proliferative disease suggested a defect in the inflammatory response in these patients.