Chediak-Higashi syndrome is an unusual genetic disorder where the immune system is impaired. Patients with this condition also develop secondary complications including albinism and neurological problems. It eventually becomes fatal when it enters what is known as the accelerated phase, where a snowball effect occurs and the patient's organs go into failure. Management of this disease is focused on addressing symptoms and complications as they arise.
In patients with Chediak-Higashi syndrome, the cells responsible for engulfing infectious bacteria cannot properly break up the bacteria. This makes it hard to fight infections, and can lead to recurrent infections in the patient. In addition, melanin-producing cells are also defective, leading to pale skin, hair, and eyes. The low levels of melanin cause light sensitivity and also lead to vision problems in many patients. Patients usually develop neurological problems in association with this condition later in life.
People with this condition are less able to fight off infection and more likely to experience serious complications as a result of infections. Aggressive antibiotic therapy is required. In the accelerated phase, usually triggered by an infection, the spleen and liver enlarge, jaundice develops, and the patient acquires a very high fever. This will eventually be fatal, as the patient's organs start to shut down in the adverse conditions.
Some patients have benefited from bone marrow transplants to provide them with healthy and functional immune cells. In other patients, treatment is focused on limiting the chance of infections and treating them as quickly as possible when they do occur. Patients with Chediak-Higashi syndrome need to be careful at school to avoid sources of infection and can be in danger in hospital settings, where infectious agents are common and can be difficult to fully control.
This condition is recessive, requiring two copies of the involved gene to develop. Prenatal testing can be used to identify Chediak-Higashi syndrome by looking for tell-tale variations in cell size in a sample from the fetus. People with a family history of this disease may want to consider this when preparing for a pregnancy, as there is a chance they may be carriers. It should also be noted that, like many genetic conditions, it can vary in severity; some people become sick and die very young, while others may experience an onset of symptoms later in life and usually survive their childhoods. It can be difficult to predict how a genetic disease like Chediak-Higashi syndrome will manifest in any given person.
