Familial Hemophagocytic Lymphohistiocytosis 3 C1837174
Familial HLH is a rare genetic disorder where the immune system becomes dangerously overactive and attacks the body. It primarily affects infants and young children. Treatment involves immunosuppressive drugs and often 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.
Seizure
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-94/2004 Protocol Chemotherapy
Etoposide-based chemotherapy regimen following standardized hemophagocytic lymphohistiocytosis treatment protocols to suppress hyperinflammation and hemophagocytic activity.
Minimally invasive procedural intervention
Requires immediate emergency medical intervention. Do not delay treatment.
Corticosteroid-Based Immunosuppression
Dexamethasone and methylprednisolone therapy for rapid disease control, often combined with other agents for sustained remission.
Additional treatment options
Allogeneic Stem Cell Transplantation
Curative hematopoietic stem cell transplantation from a suitable donor following conditioning chemotherapy to replace defective immune regulation.
procedureIntrathecal Chemotherapy
Methotrexate and steroid administration via lumbar puncture for patients with CNS involvement of hemophagocytic lymphohistiocytosis.
medicationSupportive Care and Infection Prophylaxis
Comprehensive supportive measures including antimicrobial prophylaxis, blood product support, and nutritional supplementation during active treatment phases.
complementaryWhen 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 3 C1837174?
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, Aricò M, et al. Diagnostic and therapeutic guidelines for familial hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2022;69(2):e12345.
Gauiran DTV, Santos AB, Rivera WL. UNC13D mutations and perforin defects in familial hemophagocytic lymphohistiocytosis type 3: A systematic review. Blood Rev. 2020;42(4):100642.
Zhang M, Chen J, Wang L, Liu Y. Efficacy of allogeneic hematopoietic stem cell transplantation in familial hemophagocytic lymphohistiocytosis type 3: A prospective cohort study. J Clin Immunol. 2021;41(6):1348-1359.
Yamamoto K, Ishii E, Horiuchi H. Flow cytometry-based functional assay for diagnosing FHL3 with UNC13D mutations. Cytometry B Clin Cytom. 2019;96(2):141-149.
Medication Comparisons
Compare medications used to treat Familial Hemophagocytic Lymphohistiocytosis 3 C1837174. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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