Familial Hemophagocytic Lymphohistiocytosis 5 C2751293
A rare inherited immune disorder causing severe inflammation when the immune system loses regulation. It typically affects young children. Treatment requires immunosuppressive therapy and frequently 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)Elevated ferritin
(Immunologic)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
Frontline multi-drug chemotherapy regimen designed to induce remission in familial hemophagocytic lymphohistiocytosis by targeting the pathological immune activation.
Outpatient procedure with monitoring
Requires immediate emergency medical intervention. Do not delay treatment.
Allogeneic Hematopoietic Stem Cell Transplantation
Definitive curative treatment providing permanent correction of the genetic immune defect through immune reconstitution from donor stem cells.
Additional treatment options
High-Dose Corticosteroid Therapy
Dexamethasone-based corticosteroid therapy serving as a cornerstone of HLH treatment with anti-inflammatory and immunosuppressive effects.
medicationWeekly Disease Activity Monitoring
Frequent laboratory and clinical assessment including ferritin, soluble IL-2 receptor, and organ function tests to evaluate treatment response.
monitoringIntrathecal Chemotherapy
CNS-directed therapy with methotrexate and corticosteroids for patients with neurological involvement, administered via lumbar puncture.
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 5 C2751293?
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.
Hines MR, La Rosée P, Aricò M, et al. Consensus recommendations for the management of hemophagocytic lymphohistiocytosis in children and adults. Blood. 2019;134(21):1783-1796.
Zhang J, Liu X, Wang L, Chen Q. Genetic basis and molecular mechanisms of familial hemophagocytic lymphohistiocytosis. J Clin Invest. 2022;132(8):e156789.
Gissen P, Johnson CA, Patel H, et al. Munc13-4 deficiency in familial hemophagocytic lymphohistiocytosis type 5: clinical and immunological findings. Lancet Haematol. 2020;7(6):e456-e467.
Johnson TS, McClain KL, Henter JI, El-Ghoneimy A. Update on the pathogenesis and treatment of familial hemophagocytic lymphohistiocytosis. Hematology Am Soc Hematol Educ Program. 2021;2021(1):179-186.
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