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Forme Fruste of HLH (haemophagocytic lymphohistiocytosis): diagnostic and therapeutic challenges
Susumu Inoue1, Chetna Mangat2, Yaseen Rafe'e3
1Department of Hematology/Oncology, Hurley Children's Hospital, Flint, Michigan, USA.
Insights
A persistent febrile illness in children can be challenging to diagnose. This case highlights the importance of thoroughly investigating Hemophagocytic Lymphohistiocytosis (HLH) and its genetic causes.
Area of Science:
- Pediatric Medicine
- Immunology
- Hematology
Background:
- Persistent febrile episodes in infants and young children often lack clear infectious causes.
- These cases pose significant diagnostic and therapeutic challenges for clinicians.
- Identifying the underlying cause is crucial for appropriate management and prognosis.
Observation:
- A 13-month-old child presented with a persistent febrile episode and a sick appearance.
- Initial infectious disease work-up was negative.
- The child's presentation suggested a possible incomplete form of Hemophagocytic Lymphohistiocytosis (HLH) or Kawasaki disease.
Findings:
- The patient exhibited hypercytokinemia, a key feature of HLH.
- Response to Intravenous Immunoglobulin (IVIG) was observed, but this is not diagnostic for either condition.
- Genetic testing for HLH etiologies was not performed, limiting prognostic and recurrence risk assessment.
Implications:
- Thorough work-up is essential to establish a definitive diagnosis of HLH in complex pediatric cases.
- Investigating genetic causes of HLH is critical for predicting disease severity and recurrence risk.
- Differentiating HLH from other conditions like Kawasaki disease requires careful clinical and laboratory evaluation.
Abstract:
Infants and young children often present with a persistent febrile episode, sick appearance and negative infectious disease work-up. These patients present serious diagnostic and therapeutic problems to those who provide medical care, particularly since these children are clinically sick. We present a 13 month old child who presented with this clinical challenge. She was ultimately thought to have an incomplete form of HLH with underlying pathophysiology of hypercytokinemia, but also could have been a case of incomplete form of Kawasaki disease. She responded to IVIG, but this does not differentiate one diagnosis from another. Unfortunately we failed to obtain tests to exclude genetic etiologies of HLH, which would be important for predicting severity and risks of future recurrence. We wish to present this case so that one should do a thorough work up to establish a firm diagnosis of HLH and to search for genetic causes of this disorder.
