Living with Chédiak-Higashi syndrome
A condition that affects many parts of the body, especially the immune system, with repeated infections and light skin, hair, and eyes.
Understanding Chédiak-Higashi syndrome
It damages immune cells, so they are less able to fight viruses and bacteria. Most people have repeated, persistent infections starting in infancy or early childhood. These infections tend to be very serious. It also causes oculocutaneous albinism, which makes the skin, hair, and eyes lighter in color.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated, persistent infections
- Light skin, hair, and eye color (albinism)
- Easy bruising
- Abnormal bleeding and nosebleeds
- Problems with platelets (blood clotting cells)
- Retina color changes
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, blood and bone marrow specialists, brain and nervous system specialists and eye disease specialists.
- 3Consider genetic testing
Changes in LYST 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
Immune Deficiency Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: Immune Deficiency Foundation, The Foundation for Peripheral Neuropathy
- 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 Immune Deficiency Foundation 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 the LYST gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: beguez cesar disease; béguez césar disease; chediak - steinbrinck anomaly; chediak anomaly; chediak higashi syndrome; chediak-higashi syndrome
Patient organizations
- Immune Deficiency FoundationChédiak-Higashi syndrome · United States
- Jeffrey Modell FoundationChédiak-Higashi syndrome · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Chédiak-Higashi syndrome.
Explore research for Chédiak-Higashi syndrome
Explore actively recruiting Chédiak-Higashi syndrome studies with HealthSpark.
Find actively recruiting studies for Chédiak-Higashi syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Chédiak-Higashi syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Chédiak-Higashi syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Chédiak-Higashi syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.