Systemic and Nodular Hyperinflammation in a Patient with Refractory Familial Hemophagocytic Lymphohistiocytosis 2

Autor: Scott W. Canna, Jessie L. Barnum, Darshit Thakrar, Corinne Schneider, Julia Segal, Steven William Allen, Miguel Reyes-Múgica, Jessica D Daley, Cláudia M. Salgado, Serter Gumus
Rok vydání: 2021
Předmět:
0301 basic medicine
endocrine system
medicine.medical_specialty
Immunology
Anti-Inflammatory Agents
Salvage therapy
Tachypnea
Gastroenterology
Article
Dexamethasone
Lymphohistiocytosis
Hemophagocytic
03 medical and health sciences
Fatal Outcome
0302 clinical medicine
hemic and lymphatic diseases
Internal medicine
Humans
Immunologic Factors
Immunology and Allergy
Medicine
Alemtuzumab
Etoposide
Inflammation
Salvage Therapy
Anakinra
Hemophagocytic lymphohistiocytosis
biology
Perforin
business.industry
Perforin Deficiency
fungi
Antibodies
Monoclonal
Immunoglobulins
Intravenous
Infant
Familial Hemophagocytic Lymphohistiocytosis
musculoskeletal system
medicine.disease
Antibodies
Neutralizing
Interleukin 1 Receptor Antagonist Protein
030104 developmental biology
biology.protein
Female
medicine.symptom
business
hormones
hormone substitutes
and hormone antagonists
030215 immunology
medicine.drug
Zdroj: J Clin Immunol
ISSN: 1573-2592
0271-9142
Popis: Familial hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome resulting from defective cytotoxicity. A previously healthy 3-month-old female presented with fever, irritability, abdominal distention, and tachypnea. She ultimately met all eight HLH-2004 diagnostic criteria, accompanied by elevated CXCL9. Initial empiric anti-inflammatory treatment included anakinra and IVIg, which stabilized ferritin and cytopenias. She had molecular and genetic confirmation of perforin deficiency and was started on dexamethasone and etoposide per HLH-94. She clinically improved, though CXCL9 and sIL-2Ra remained elevated. She was readmitted at week 8 for relapsed HLH without clear trigger and HLH-94 induction therapy was reinitiated. Her systemic HLH symptoms failed to respond and she soon developed symptomatic CNS HLH. She was incidentally found to have multifocal lung and kidney nodules, which were sterile and consisted largely of histiocytes and activated, oligoclonal CD8 T cells. The patient had a laboratory response to salvage therapy with alemtuzumab and emapalumab, but progressive neurologic decline led to withdrawal of care. This report highlights HLH foci manifest as pulmonary/renal nodules, demonstrates the utility of monitoring an array of HLH biomarkers, and suggests possible benefit of earlier salvage therapy.
Databáze: OpenAIRE
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