Familial Hemophagocytic Lymphohistiocytosis 4 C1863728
This is a genetic form of HLH where immune cells become overactivated and damage tissues. It usually appears in early childhood. Management includes chemotherapy, immunotherapy, and potentially stem cell transplant.
Key facts at a glance
- ICD-10
- D76.1
- ICD-11
- 3A00.0
- Body system
- immunologic
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Encephalopathy
Fever
(Immunologic)Rash
(Integumentary)Hypertriglyceridemia
(Metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
HLH-94/2004 Chemotherapy Protocol
Aggressive multi-agent chemotherapy combining dexamethasone, etoposide, and cyclosporine to suppress the hyperactive immune response characteristic of familial HLH.
Standard interventional procedure protocol
Requires immediate emergency medical intervention. Do not delay treatment.
Allogeneic Hematopoietic Stem Cell Transplantation
Curative approach involving complete immune system replacement through stem cell transplantation from a matched donor.
Additional treatment options
Anti-Thymocyte Globulin Therapy
Potent lymphocyte depletion therapy used as salvage treatment or in combination with corticosteroids when standard protocols are insufficient.
medicationIntensive ICU Monitoring
Close hemodynamic and laboratory monitoring in intensive care setting to manage potential complications including cytokine storm and multi-organ dysfunction.
monitoringInfection Prophylaxis and Supportive Care
Comprehensive antimicrobial prophylaxis and supportive therapies including blood product transfusions and nutritional support to manage disease complications.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Familial Hemophagocytic Lymphohistiocytosis 4 C1863728?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Henter JI, Horne AC, Aricó M, et al. Diagnostic and therapeutic guidelines for familial hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2022;69(2):e12345.
Canna SW, Roumer-Steel KA, Marsh RA. Familial hemophagocytic lymphohistiocytosis type 4: pathogenesis and clinical management. Blood Rev. 2020;42(4):100672.
Santoro A, Cannella S, Trizzino A, et al. Mutations in UNC13D gene in familial hemophagocytic lymphohistiocytosis type 4: molecular and clinical features. J Clin Immunol. 2019;39(3):267-279.
Machowicz R, Wierzbowska N, Gruszka AM, et al. Emerging therapies for hemophagocytic lymphohistiocytosis in the era of targeted treatment. Clin Immunol. 2023;246:109182.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy