People with Chédiak-Higashi syndrome usually have white skin, light-colored or white hair, and pink or pale blue-gray eyes.
Doctors examine a sample of blood to check for abnormalities and do genetic tests to confirm the diagnosis.
Treatment involves antibiotics to prevent infections, other drugs to help the immune system function better, and, if possible, stem cell transplantation.
(See also Overview of Immunodeficiency Disorders.)
Chédiak-Higashi syndrome is a primary immunodeficiency disorder. It is usually inherited as an autosomal (not sex-linked) recessive disorder. That is, two genes for the disorder, one from each parent, are required.
People with Chédiak-Higashi syndrome are more susceptible to infections because phagocytes do not function normally. Phagocytes are cells that ingest and kill microorganisms.
In Chédiak-Higashi syndrome, little or none of the pigment melanin is formed (called albinism). Melanin gives skin, eyes, and hair their color. Typically, the skin is white, the hair is light-colored or white, and the eyes may be pink or pale blue-gray.
The disorder may also cause vision problems. For example, the sharpness of vision (acuity) may be reduced, and the eyes may be sensitive to light (photosensitivity). Nystagmus, which causes blurred vision, is common. In nystagmus, the eyes repeatedly move rapidly in one direction, then drift slowly back to their original position.
Chédiak-Higashi syndrome also commonly causes mouth sores, gingivitis, and periodontal disease.
People with Chédiak-Higashi syndrome also have many infections. The infections usually involve the respiratory tract, skin, and membranes lining the mouth.
In about 80% of people, Chédiak-Higashi syndrome progresses, causing fever, jaundice (a yellow color of the skin and eyes), an enlarged liver and spleen, swollen lymph glands, and a tendency to bleed and bruise easily. The disorder can also affect the nervous system, causing weakness, clumsiness, difficulty walking, and seizures. Once these symptoms develop, the syndrome is usually fatal within 30 months.
A sample of blood is withdrawn and examined under a microscope. Certain abnormalities in white blood cells suggest Chédiak-Higashi syndrome.
The diagnosis can be confirmed with genetic testing using a sample of blood.
Because this disorder is very rare, family members are screened only if they have symptoms suggesting Chédiak-Higashi syndrome.
Treatment of Chédiak-Higashi syndrome involves antibiotics to help prevent infections and interferon gamma (a drug that modifies the immune system) to help the immune system function better.
Corticosteroids and removal of the spleen (splenectomy) sometimes temporarily relieve symptoms.
However, unless stem cell transplantation is done, most people die of infections by the time they are 7 years old. Transplantation of stem cells from a donor with the same tissue type may cure them. Usually, children are given a chemotherapy drug before transplantation (pretransplant conditioning chemotherapy) to reduce the risk of rejection of the transplanted cells. About 60% of children are alive 5 years after transplantation.