What is cerebrotendinous xanthomatosis?
Cerebrotendinous xanthomatosis (suh-ree-bro-ten-din-us zan-tho-ma-toe-sis), or CTX, is a rare genetic disease with many symptoms
Though CTX can cause many symptoms, not all people with CTX will experience all of them. How the disease affects the body, over time, may determine a person’s experience with CTX. It will differ by the type of symptoms, combination of symptoms, severity of symptoms, and age at which symptoms occur. As a result, diagnosis can be challenging and is usually delayed. Knowing all possible symptoms can help you take action.
Explore each symptom to learn more
Cholestasis in infants
Frequent diarrhea
Early cataracts in both eyes
Neurological problems
Tendon xanthomas
A closer look at how symptoms of CTX are caused
CTX is a type of a lipid storage disease. This type of disease usually causes problems with lipid metabolism. Lipid metabolism is a process your body uses to make energy from the food you eat, specifically from fats and cholesterol. This process requires chemicals in your digestive system (enzymes) to break down fats and cholesterol into different parts for energy. Your body can use the energy right away, or it can be stored in your body’s tissues.
In CTX, a certain enzyme is not working properly, and cholesterol isn’t broken down properly.
What happens when cholesterol doesn’t break down?
TOXINS called cholestanols and bile alcohols stay in the body and build up in blood and tissues throughout the body over time.
BUILDUP in different parts of the body can take years and can cause different symptoms that vary from person to person, which may get worse without treatment.
SERIOUS LONG-TERM HEALTH PROBLEMS can happen over time, but early diagnosis and treatment are the first step to prevention. Because CTX affects many different parts of the body, affected people and their doctors may not realize that the symptoms are connected until the disease has caused serious problems.
People with CTX are born with it
CTX is an inherited disease, which means the cause of CTX can be traced back to your genes. Your genes are passed down by your parents. The way CTX is passed down is called autosomal recessive. This means 2 damaged copies of the gene responsible for CTX were passed down. If only 1 copy of the gene responsible for CTX is passed down, the person who inherited the gene is not affected and is called a carrier.
Because CTX can run in families, it’s important to consider genetic counseling in the whole family if one person is diagnosed with the disease. Don’t wait until symptoms start, especially because it may take some time to see the effects of toxin and cholestanol buildup in blood and tissues throughout the body. Know that genetic testing is available to help identify if any other members of the family, including children, also have CTX.