Cerebrotendinous xanthomatosis (CTX) is a disease that leads to increased storage of fats, such as cholesterol, in the body. Common features of this disorder include diarrhea that starts in infancy, clouding of the eyes that affect vision (cataracts), deposits of fat under the skin (xanthomas), and neurologic problems that get worse over time.
For many affected individuals, chronic diarrhea beginning in infancy is the earliest manifestation. Development of cataracts during early childhood is typical for CTX. Xanthomas most commonly begin appearing in adolescence and early adulthood, often on the back of the heel (the Achilles) and other tendons, though they can occur throughout the body. Most individuals with CTX have no or mild neurologic problems before puberty. Beginning in the 20s, neurologic symptoms such as seizures and an inability to control movements can develop. These symptoms will often worsen over time. Additional neurological features may include intellectual disability and mental health problems such as depression or hallucinations. Some other reported features of CTX include weak and brittle bones and heart problems.
Cases have been reported in most regions of the world, but exact statistics are limited. At this time, there is no consensus on the global incidence of this disorder. the condition seems to be most common in the Druze population in Israel and in Sephardic Jews of Moroccan descent. The incidence in Caucasians is at least 1 in 50,000, and in those of Spanish descent it is estimated to be 1 in 1,800,000.
There is no cure for CTX, but early diagnosis and treatment with chenodeoxycholic acid (CDCA) may prevent and can improve some symptoms. Other treatment focuses on the management of symptoms, such as medication for seizures and trouble controlling movements or calcium and vitamin D for weak and brittle bones. Eye surgery to remove cataracts is often required in adulthood.
If identified and treated early, clinical symptoms of the disorder may be prevented. While treatment may improve some symptoms, it may not be able to reverse all features once there has been disease progression. In addition, lifespan may be normal if treated early. Without treatment, the average lifespan is 50-60 years due to progressive deterioration.
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