Living with Familial hemophagocytic lymphohistiocytosis
An inherited immune condition in which overactive immune cells cause fever and damage the liver, spleen, and bone marrow.
Understanding Familial hemophagocytic lymphohistiocytosis
The overactive immune system causes fever and enlarges the liver and spleen. It also damages blood-making cells in the bone marrow, leading to anemia and low platelets, and easy bruising or bleeding. The brain, heart, and kidneys may also be affected. Signs usually appear in infancy, sometimes later. They often start with an infection, but may occur without one.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fever
- Enlarged liver and spleen
- Easy bruising or bleeding
- Low red blood cells (anemia)
- Brain symptoms such as irritability or seizures
- Liver problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, brain and nervous system specialists, cancer specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Histiocytosis Association and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Histiocytosis Association, Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Histiocytosis Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name the gene.
Also known as: familial erythrophagocytic lymphohistiocytosis; familial hemophagocytic histiocytosis; familial hemophagocytic reticulosis; familial histiocytic reticulosis; familial hlh; fel - familial erythrophagocytic lymphohistiocytosis
Patient organizations
- Histiocytosis AssociationFamilial hemophagocytic lymphohistiocytosis · United States
- Jeffrey Modell FoundationFamilial hemophagocytic lymphohistiocytosis · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial hemophagocytic lymphohistiocytosis.
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