What is Chediak Higashi Syndrome

Chediak-Higashi Syndrome (CHS) is a rare genetic disorder that affects various body systems. It is characterized by abnormal functioning of certain cells, particularly those involved in the immune system and pigmentation. Individuals with CHS have a mutation in the LYST gene, which leads to the production of dysfunctional lysosomes, specialized compartments within cells responsible for breaking down waste materials.

One of the prominent features of CHS is **albinism**, resulting in pale skin, hair, and eye color. Additionally, individuals with CHS may experience **recurrent infections** due to impaired immune cell function. They are also prone to **abnormal bleeding** and may have an increased risk of developing certain types of **cancer**.

The symptoms of CHS can vary in severity, with some individuals experiencing more severe complications than others. Treatment primarily focuses on managing the symptoms and preventing infections. This may involve regular use of antibiotics, antiviral medications, and other supportive measures.

Research is ongoing to better understand CHS and develop potential therapies. Genetic counseling is recommended for families with a history of CHS to understand the risk of passing on the condition to future generations.