Familial Hemophagocytic Lymphohistiocytosis 2 C1863727
An inherited immune disorder where immune cells attack healthy tissues. It mainly affects children and is treated with immunosuppressive medications.
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.
High fever
Neurological deterioration
Hepatosplenomegaly
(hepatobiliary)Elevated serum ferritin
(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
Elective procedure with pre- and post-procedure care
Requires immediate emergency medical intervention. Do not delay treatment.
HLH-94/2004 Protocol Chemotherapy
Etoposide-based chemotherapy regimen following HLH treatment protocols to suppress the hyperinflammatory state and control hemophagocytic activity.
Immunomodulatory Therapy
High-dose corticosteroids, typically dexamethasone, with or without cyclosporine A to achieve rapid disease control in hemophagocytic lymphohistiocytosis.
Additional treatment options
Allogeneic Hematopoietic Stem Cell Transplantation
Curative treatment involving chemotherapy conditioning followed by stem cell infusion from a matched donor to restore normal immune function.
procedureAnti-Thymocyte Globulin Therapy
ATG therapy for refractory or relapsed hemophagocytic lymphohistiocytosis, providing profound immunosuppression to control the hyperinflammatory process.
medicationPsychosocial Support Services
Comprehensive psychological support for patients and families dealing with the stress of a critical illness diagnosis, treatment side effects, and potential transplant process.
psychologicalWhen 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 2 C1863727?
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. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2021.
Clement N, Rivera J, Nichols KE. Molecular basis of familial hemophagocytic lymphohistiocytosis type 2. J Clin Immunol. 2019.
Trottestam H, Horne A, Aricó M, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood. 2018.
Zhang K, Sun L, Wang Q, Chen J. Perforin defects and familial hemophagocytic lymphohistiocytosis: a systematic review. Blood Rev. 2022.
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