Cerebrotendinous xanthomatosis

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I am a carrier of cerebrotendinous xanthomatosis, will I develop symptoms?

Carriers of the CYP27A1 gene that causes cerebrotendinous xanthomatosis do not develop symptoms of the disorder. They are at risk of passing the disorder on to their children. In extremely rare instances, a couple people with a gene change in one CYP27A1 gene have developed symptoms. Researchers suspect this is because of another change or alteration in a different gene that, when combined the alteration in the CYP27A1 gene causes symptoms similar to those in cerebrotendinous xanthomatosis.

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When is the best time to start chenodeoxycholic acid replacement therapy in cerebrotendinous xanthomatosis?

How long with my child have to be on chenodeoxycholic acid therapy for cerebrotendinous xanthomatosis?

Are there compliance issues with cerebrotendinous xanthomatosis?

Can I continue to take CDCA therapy for cerebrotendinous xanthomatosis when pregnant?

How do children with cerebrotendinous xanthomatosis do in school?

Is there help for the neurological problems with cerebrotendinous xanthomatosis?

Why did it take my child so long to get a diagnosis of cerebrotendinous xanthomatosis?

Can xanthomas in cerebrotendinous xanthomatosis be treated surgically?

Where can I get financial help for cerebrotendinous xanthomatosis?

Is cerebrotendinous xanthomatosis a lipid storage disease or a leukodystrophy? Does it matter?

What if I have cerebrotendinous xanthomatosis (CTX) and it does not respond to standard treatment?

When is the best time to start chenodeoxycholic acid replacement therapy in cerebrotendinous xanthomatosis?

Doctors don't know if there is a best time to start chenodeoxycholic acid replacement therapy in children or individuals with cerebrotendinous xanthomatosis. According to the medical literature, the earlier treatment can be started the better. Some symptoms, specifically neurological disease, may not respond to therapy if treatment is started too late.

References
  • Yahalom G, Tsabari R, Molshatzki N, et al. Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. Clin Neuropharmacol. 2013;36(3):78-83.
  • Cerebrotendinous Xanthomatosis. National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/cerebrotendinous-xanthomatosis/. Updated 2014. Accessed April 10, 2016.
  • Federico A, Dotti MT, Gahl W. Cerebrotendinous Xanthomatosis. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1409/ Updated August 1, 2013. Accessed April 10, 2016.
How long with my child have to be on chenodeoxycholic acid therapy for cerebrotendinous xanthomatosis?

Chenodeoxycholic acid (or CDCA) replacement therapy is the main treatment option for people with cerebrotendinous xanthomatosis. It is not a cure, however. People who take the medication will have to remain on it for the rest of their lives.

References
  • Berginer VM, Salen G, Patel SB. Cerebrotendinous Xanthomatosis. In: Rosenberg RN, Pascual JM, eds. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th edition. Philadelphia, PA:Elsevier, Inc.;2015.
Are there compliance issues with cerebrotendinous xanthomatosis?

People who take chenodeoxycholic acid (or CDCA) replacement therapy for cerebrotendinous xanthomatosis must take this therapy for the rest of their lives. People must follow a treatment plan for the drug that was developed by physicians. Sometimes people stop following that plan. Sometimes people stop taking a drug because it's working well and they feel better. They may start to think that they do not need the drug anymore or as often as their doctors recommend. However, cholesterol and other fatty substances will keep building up in the cells of the body throughout life, even if you start to feel better. Stopping one of these drugs will lead to even more buildup of these substances. This drug must be taken every day. Even if someone feels better and their symptoms improve, they need to continue to follow their treatment plan as developed by their physician and medical team.

References
  • Yahalom G, Tsabari R, Molshatzki N, et al. Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. Clin Neuropharmacol. 2013;36(3):78-83.
  • Berginer VM, Gross B, Morad K, et al. Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics. 2009 Jan;123(1):143-7.
Can I continue to take CDCA therapy for cerebrotendinous xanthomatosis when pregnant?

According to the medical literature, women with cerebrotendinous xanthomatosis can continue to take chenodeoxycholic acid replacement therapy during pregnancy.

References
How do children with cerebrotendinous xanthomatosis do in school?

How children with cerebrotendinous xanthomatosis perform in school depends on many factors including when treatment began, how a child responds to treatment, whether neurological problems occur early, and how severe a form of the disorder they may have. If undiagnosed and untreated, children with cerebrotendinous xanthomatosis may show a gradual mental decline starting around puberty. Sometimes, these subtle changes may begin in childhood. Children may experience learning disabilities. Some children will be eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on cerebrotendinous xanthomatosis and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans. The Program for the Study of Neurodevelopment in Rare Disorders gives advice about IEPs.

References
Is there help for the neurological problems with cerebrotendinous xanthomatosis?

There are several organizations that can help individuals and families with cerebrotendinous xanthomatosis who are dealing with neurological problems. If untreated, a diverse and wide variety of neurological complications may develop in people. Many different organizations provide support and information for these issues. The Arc provides support and services to people with intellectual and developmental disabilities. The National Mental Health Institute and the National Alliance on Mental Illness also provide a wide range of services, information, support, guidance and referrals for people of all ages.

References
Why did it take my child so long to get a diagnosis of cerebrotendinous xanthomatosis?

Cerebrotendinous xanthomatosis is extremely difficult to diagnose. There is usually a significant delay in the time it takes to get a diagnosis. There are several reasons for this. Most doctors will never see a person with this disorder and most aren't familiar with the disorder. The disorder is also high variable. This means that there are many different symptoms associated with the disorder. The specific symptoms, the age they begin, their severity all may differ dramatically from one person to another. Symptoms affect different organs so patients end up seeing different medical specialists. Parents may not think to tell an eye doctor who finds cataracts in their child's eyes that the child also has persistent diarrhea. Finally, there is no newborn screening test for cerebrotendinous xanthomatosis. Doctors are working on developing such a test.

References
  • Mignarri A, Gallus GN, Dotti MT, Federico A. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2014 May;37(3):421-9.
Can xanthomas in cerebrotendinous xanthomatosis be treated surgically?

Generally, surgery for xanthomas associated with cerebrotendinous xanthomatosis is not recommend. Surgery is only recommended in specific situations as when a xanthoma is compressing against the spine.

References
  • Berginer VM, Salen G, Patel SB. Cerebrotendinous Xanthomatosis. In: Rosenberg RN, Pascual JM, eds. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th edition. Philadelphia, PA:Elsevier, Inc.;2015.
Where can I get financial help for cerebrotendinous xanthomatosis?

The medical costs of cerebrotendinous xanthomatosis can be significant. Some families lack the resources necessary to provide for a chronically ill child. Adults with severe symptoms of the disorder may not be able to work or care for themselves. There are several organizations that provide financial assistance specifically for individuals or families with medical issues. These groups include:

The Social Security Administration has a Compassionate Allowances Initiative. This program speeds up the processing of disability claims for people with specific medical conditions that cause severe disability. Cerebrotendinous xanthomatosis is included on this list. Information for applying for Social Security Disability can be found on their website.

A patient assistance program, the Chenodal Total Care Program, may help patients who require financial assistance obtain this drug. The number for the program is 1.866.758.7068. Patient assistance programs provide free or low cost prescription drugs to qualifying individuals.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

Is cerebrotendinous xanthomatosis a lipid storage disease or a leukodystrophy? Does it matter?

Cerebrotendinous xanthomatosis is classified as both a leukodystrophy and a lipid storage disease. Leukodystrophy is a general term for a disorder that affects the growth and health of myelin. Myelin is a covering or "sheath" that coats, protects, and insulates nerve fibers. Collectively, myelin-covered nerve fibers are known as white matter. In some people with cerebrotendinous xanthomatosis, a fatty substance called cholestanol builds up in the white matter. Lipid storage diseases are those in which harmful amounts of fatty substances such as cholesterol and cholestanol build up in the tissues and cells of the body.

References
What if I have cerebrotendinous xanthomatosis (CTX) and it does not respond to standard treatment?

You should discuss the medication, its effectiveness and side effects of any medication you are taking with your doctor. In 2019, a small study looked at the use of cholic acid as a treatment in individuals with cerebrotendinous xanthomatosis (CTX). Cholic acid was an effective treatment, especially for some individuals for which standard replacement therapy was not effective. However, the study was very small and much more research is needed to determine if cholic acid is effective for a larger portion of affected individuals.

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