CTX has 4 key signs and symptoms

The key signs and symptoms of CTX are cataracts, chronic diarrhea, tendon xanthomas, and neurological problems

CTX causes cholestanol to build up in the eyes, tendon, brain, and other tissues, which can cause a lot of different problems.

Chronic diarrhea may be the first sign of CTX

About half of all people with CTX have chronic diarrhea as babies or young children. There are many possible causes of diarrhea, but if a child develops cataracts in both eyes for no apparent reason, and has a history of chronic diarrhea, a test for CTX may be a good idea.

Children with CTX often develop cataracts in both eyes

Most people with CTX will develop cataracts in both eyes while they are still young, often between the ages of 4 and 18 years. Although they usually need an operation, most children have normal vision after cataract surgery. Childhood cataracts are rare, and while there are other causes, CTX is 1 possibility. Testing for CTX may be considered if children have cataracts in both eyes with no apparent cause and especially if they also have suffered from another key sign.

Teenagers and young adults with CTX may develop tendon xanthomas

Tendon xanthomas are unusual fatty deposits or growths in the tendons—especially the Achilles tendon at the back of the heel. More than half of people affected by CTX will develop tendon xanthomas, but typically not until their teenage years or later. By this time CTX may already have started to cause neurological problems.

Achilles tendon xanthoma in a patient with CTX.

Image reproduced with permission from J Neurol Neurosurg Psychiatry.

CTX can also affect the brain when diagnosis is late or missed

CTX causes neurological problems by a slow buildup of cholestanol in the brain. It can take many years for neurological problems to show up.

Babies and children with CTX may hit early milestones (eg, walking and talking) at a normal age, but then fall behind when they are at school. They may have learning difficulties or continued babyish behavior, be unable to take care of themselves like other children can, or have trouble with school work. Before finding out that they had CTX, some children have been told they had learning disorders, behavioral difficulties, attention deficit hyperactivity disorder (ADHD), autism spectrum disorders, etc.

Without early diagnosis and the right care, neurological problems will usually get worse and can cause problems with walking, early dementia (problems with memory, thinking, language, judgment, and behavior), and psychiatric or mental problems.

If children with cataracts or teenagers or young adults with tendon xanthomas also have learning difficulties, developmental delays, or behavioral problems, a test for CTX should be considered.

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