Cerebro- tendinous Xanthomatosis
What is cerebrotendinous xanthomatosis?
Cerebrotendinous xanthomatosis is a condition caused by the body not having enough of a specific enzyme called sterol 27-hydroxylase. This enzyme is important for breaking down cholesterol and helping the body digest certain kinds of fats. Without the proper amount of enzyme, fats can build up to unsafe levels in the brain and connective tissues. The first symptoms of cerebrotendinous xanthomatosis include chronic diarrhea and cataracts covering the eyes. Later in life, people with this condition develop neurological symptoms such as learning disabilities and psychiatric conditions, as well as fatty nodules (called xanthomas) on the hands, feet, Achilles tendon, elbows and neck. People with cerebrotendinous xanthomatosis can show signs and symptoms in infancy, but many symptoms don’t appear until adulthood.
How common is cerebrotendinous xanthomatosis?
Cerebrotendinous xanthomatosis affects about 1 in every 50,000 babies born each year in the United States
What can done for cerebrotendinous xanthomatosis?
Identifying this condition early, before or at the start of symptoms, is critical for preventing long term disabilities. Treatment for cerebrotendinous xanthomatosis includes oral bile acid replacement and sometimes, a type of daily medication called a statin. When treatment begins early, the signs and symptoms of the disease can be prevented or halted, including the neurological symptoms.
How is cerebrotendinous xanthomatosis inherited?
Cerebrotendinous xanthomatosis is caused by changes in the CYP27A1 gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the CYP27A1 gene, one from each parent, in order to have the disease. People who have only one copy of the altered CYP27A1 gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for cerebrotendinous xanthomatosis through Eli screening, genetic counseling and additional testing in the parents is recommended.