You may have heard about certain liver diseases, such as cirrhosis, or scarring, of the liver, caused by things such as viral hepatitis and alcoholism. In contrast to these conditions, which are acquired during one’s lifetime, some people are born with liver disease that affects one or more of the key “metabolic processes” the liver is charged with carrying out. These metabolic processes are essential to keeping us healthy.

One rare genetic liver disease is called “cerebrotendinous xanthomatosis,’’ or CTX for short. This is a serious disorder that can cause a range of health problems starting in childhood. What is this disease, how is it caused and how is it treated?

What is “cerebrotendinous xanthomatosis,’’ or CTX?

With this disorder, fat, or “lipids,’’ are stored abnormally in the body. People with this disease don’t have enough of a certain enzyme that helps break down cholesterol. Often, these fat deposits accumulate in nerve cells and cell membranes. Those deposits, which look like fatty yellow nodules called “xanthomas,’’ can cause damage to the brain, spinal cord, tendons, lenses of the eyes and arteries.

Children with this disease may experience diarrhea and develop cataracts in their eyes early in life. During adolescence and young adulthood, they may develop fatty deposits on their tendons. Common areas for these fatty nodules to form are in the tendons of the hands, elbows, knees, neck and Achilles tendon, which connects your heel to your calf muscles.

As people with this disorder enter young adulthood and the fatty deposits increase, they also may experience neurological problems, including seizures, movement disorders, impaired speech, a loss of feeling in their arms and legs, dementia, hallucinations and depression.

In addition to all these problems, people with CTX may experience yellowing of the skin and whites of the eyes, increased risk of cardiovascular disease, osteoporosis and repeated bone fractures. The symptoms can get worse over time, so it’s important to get treatment.

Historically, this disease has been called several names, including cerebral cholesterinosis, cerebrotendinous cholesterinosis, cholestanol storage disease, cholestanolosis and Van Bogaert-Scherer-Epstein disease.

What causes this disorder?

CTX is rare; it is estimated that between 8,000-14,000 people in the United States are affected. However, scientists believe many cases of this disease may go undiagnosed or are misdiagnosed.

The condition is caused by a genetic mutation in CYP27A1, a gene involved in the cholesterol metabolism pathway in the liver. That means it is an inherited disorder.

How is the condition diagnosed?

To diagnose this condition, a doctor will give a patient a thorough clinical evaluation, take a detailed patient and family history and perform specialized blood and urine tests.

Sometimes, imaging techniques might be used, such as ultrasound of the abdomen or magnetic resonance imaging (MRI) of the brain to look for characteristic changes.

Early diagnosis is important to prevent the disease from getting worse. If the disease has progressed for a long time, treatment most likely will not reverse neurological problems that have already occurred.

What is the treatment?

Something called “oral bile acid replacement therapy” is commonly used to keep the disease from getting worse or prevent symptoms from occurring in people who don’t already have symptoms. Taking this bile acid can help restore normal metabolic functioning in the liver.

Have CTX or know someone who does?

Ochsner’s Pediatric Liver Program is an expert in the diagnosis and treatment of rare genetic liver diseases, including CTX. We provide multidisciplinary comprehensive care to address all aspects of CTX, helping patients get complete and efficient care, so they can get back to life.

Ochsner is also enrolling children and adults with CTX in a multicenter treatment trial. Interested patients may call 504-894-2873 for more information.