Rare

There have been only about 500 diagnosed cases of CTX.

 
 

Inherited

The condition can be passed down from birth parents to their children. It is passed through genes.

 
 

Lipid storage disorder

Lipids are a type of fat. Lipid storage disorders happen when the body is not able to break down lipids. This also prevents bile acids from being made.

Because CTX is genetic, it can run in families. Get family members tested for CTX, too.

What are the signs of CTX?

In people with CTX, a mutation in the CYP27A1 gene prevents an important enzyme (sterol 27-hydroxylase) from working properly. An enzyme is a protein that speeds up specific processes in the body. 

When this particular enzyme malfunctions, it prevents the body from breaking down fats and making certain bile acids needed to digest food. As a result, CTX toxins build up in the bloodstream, eyes, tendons, brain, and other tissues over time. This buildup then leads to a range of signs and symptoms.

The signs of CTX can differ from patient to patient and may appear at different stages of life. 
The most common signs include (but are not limited to):

Early cataracts in both eyes

Blurriness or cloudiness in the eyes, occurring around 4 to 18 years old, with no known cause

Cholestasis in infants

Problems in the liver and prolonged jaundice 
(yellowing of the skin)

Frequent diarrhea

At least 3x per day with no explanation; can begin in babies or young children

Tendon xanthomas (zan-tho-mas)

Pockets of fat under the skin, often around the Achilles tendon (heel), in teenage years or later

Neurological problems

Developmental delays (learning disorders), behavioral challenges (aggression, depression, ADHD), seizures (spasms), cognitive decline (early dementia), movement disorders (trouble walking)

Why does treatment for CTX matter?

 

CTX is progressive, meaning it may get worse over time. The longer CTX progresses without treatment, the longer toxins can build up in tissues. This can cause lasting damage or dysfunction.

Early diagnosis and treatment may help prevent further damage from CTX.

Talk to a health care provider to learn more about CTX.