Chediak Higashi Syndrome
Albinism is a lack of color in the skin, hair, and eyes. Chediak-Higashi syndrome (CHS) is an extremely rare form of partial albinism that’s accompanied by problems with the immune and nervous systems.
Causes of Chediak Higashi Syndrome
CHS is an inherited condition caused by a defect in the LYST gene (also called the CHS1 gene).
The LYST gene gives the body instructions on how to make the protein that’s responsible for transporting certain materials to your lysosomes.
Lysosomesare structures inside some of your cells that break down toxins, destroy bacteria, and recycle worn out cell components.
The defect in the LYST gene causes the lysosomes to grow too large. The enlarged lysosomes interfere with normal cell functions.
They prevent cells from seeking out and killing bacteria, so your body isn’t able to protect itself from recurring infections.
In pigment cells, abnormally large structures called melanosomes (related to lysosomes) produce and distribute melanin.
Melanin is the pigment that gives color to skin, hair, and eyes.
People with CHS have albinism because melanin is trapped within the larger cell structures.
Symptoms of Chediak Higashi Syndrome
Brown or light-colored hair with a silvery sheen
Light colored eyes
White or grayish skin tone
Nystagmus (involuntary eye movements)
Frequent infections in the lungs, skin, and mucous membranes
Poor vision
Photophobia (eyes are sensitive to bright light)
Slowed mental development
Blood clotting problems resulting in abnormal bruising and bleeding
Diagnosis of Chediak Higashi Syndrome
To diagnose CHS, your doctor will first look at your medical history for other indicators of the disease, such as frequent infections. A physical exam and certain tests are then performed to make a diagnosis. A physical exam can show signs of a swollen liver or spleen, or jaundice (yellowing of skin and eyes).
Tests may include:
Complete blood count to identify abnormal white blood cells
Genetic testing to identify the defective LYST gene
Ophthalmologic exam (eye exam)to determine reduced eye pigmentation or presence of involuntary eye movement
Treatment of Chediak Higashi Syndrome
There is no cure for CHS.
Treatment consists of managing symptoms.
Antibiotics will treat infections.
Corrective eye lenses may be prescribed to improve vision.
Bone marrow transplants may help treat defects in the immune system.
This procedure is most effective when performed before a person develops the accelerated phase of the disorder.
If your child is in the accelerated phase, your doctor may prescribe antiviral medications and chemotherapy drugs to try to minimize the spread of the defective cells.