Hemophagocytic Lymphohistiocytosis Familial 6 C5436563
This is a genetic form of HLH caused by mutations affecting immune cell function. It presents with severe immune dysregulation in early life. Treatment involves immunosuppressive therapy and stem cell transplantation.
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)Hepatosplenomegaly
(Hematologic)Pancytopenia
(Hematologic)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-2004 Protocol Chemotherapy
Aggressive induction chemotherapy using dexamethasone, etoposide, and cyclosporine adapted from the HLH-2004 treatment regimen for familial HLH forms.
Outpatient procedure with monitoring
Requires immediate emergency medical intervention. Do not delay treatment.
Hematopoietic Stem Cell Transplantation
The only curative treatment for familial HLH-6, providing permanent immune reconstitution through transplantation of healthy donor stem cells.
Additional treatment options
Anti-Thymocyte Globulin-Based Intensification
Rabbit ATG therapy for patients with inadequate response to initial chemotherapy, providing profound T-cell depletion to control disease activity.
medicationFrequent Laboratory and Clinical Surveillance
Serial monitoring of HLH biomarkers including ferritin, soluble IL-2 receptor, and natural killer cell function along with organ-specific assessments.
monitoringTherapeutic Plasma Exchange
Apheresis procedure to remove circulating inflammatory cytokines and replenish deficient plasma factors in patients with severe refractory disease.
procedureWhen 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 Hemophagocytic Lymphohistiocytosis Familial 6 C5436563?
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 A, Aricó M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007.
Canna SW, Behrens EM. Making sense of the heterogeneity of hemophagocytic lymphohistiocytosis. Crit Rev Immunol. 2012.
Bergsten E, Horne A, Hed Myrberg I, et al. Stem cell transplantation for familial hemophagocytic lymphohistiocytosis type 2: a prospective clinical trial. Blood. 2020.
Marsh RA, Jordan MB, Filipovich AH. Reduced-intensity hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis: a systematic review and meta-analysis. Biol Blood Marrow Transplant. 2021.
Medication Comparisons
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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