Living with Sea-blue histiocyte syndrome
A rare condition affecting how the body handles fats, with high triglycerides, an enlarged spleen, and low platelets.
Understanding Sea-blue histiocyte syndrome
People have high triglycerides (a type of fat) in the blood and an enlarged spleen. Other signs can include a low platelet count, liver changes, and heart disease. The name comes from white blood cells (histiocytes) that look bright blue under a microscope after staining. Sex, overall blood fat levels, and the second copy of APOE can change how it appears.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged spleen (splenomegaly)
- Low platelet count (thrombocytopenia)
- Sea-blue histiocytes and foam cells in tests
- Liver scarring (cirrhosis)
- Absent underarm hair
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 genetic specialists.
- 3Consider genetic testing
Changes in APOE are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Histiocytosis Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: Histiocytosis Association
- 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
- 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
It is linked to changes in the APOE gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: inherited lipemic splenomegaly; sea-blue histiocyte; sea-blue histiocyte disease; sea-blue histiocytosis
Patient organizations
- Histiocytosis AssociationSea-blue histiocyte syndrome · United States
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