Living with Attenuated Chédiak-Higashi syndrome
A very rare, milder form of Chédiak-Higashi syndrome affecting pigment, the immune system, bleeding, and nerves.
Understanding Attenuated Chédiak-Higashi syndrome
Chédiak-Higashi syndrome involves partly reduced skin and eye color (oculocutaneous albinism), a weakened immune system, mild bleeding, nerve problems, and a lymphoproliferative disorder (overgrowth of certain immune cells). This form begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fair skin and reduced eye pigment
- Weakened immune system
- Frequent respiratory infections
- Easy bruising, nosebleeds, and bleeding gums
- Nerve damage in the limbs (peripheral neuropathy)
- Intellectual disability
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 brain and nervous system specialists and genetic 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
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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
GARD says changes in the LYST gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: attenuated chediak-higashi syndrome; atypical chediak-higashi syndrome; atypical chédiak-higashi syndrome
Patient organizations
- Immune Deficiency FoundationAttenuated Chédiak-Higashi syndrome · United States
- Jeffrey Modell FoundationAttenuated Chédiak-Higashi syndrome · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Attenuated Chédiak-Higashi syndrome.
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