Cerebrotendinous xanthomatosis

Treatment

What are the first steps after an initial diagnosis of cerebrotendinous xanthomatosis?

After a diagnosis of cerebrotendinous xanthomatosis is confirmed, families should seek a medical consultation with a a physician such as a metabolic genetic specialist with experience in treating the disorder. Treatment with oral bile acid replacement therapy should begin as soon as possible. Restoring the missing chenodeoxycholic acid will correct the problems in the production of cholestanol and prevent or reverse certain symptoms. People diagnosed with cerebrotendinous xanthomatosis will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
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Is there a treatment for cerebrotendinous xanthomatosis?

Are there organ specific treatments/symptoms to treat cerebrotendinous xanthomatosis?

Is there a treatment for cerebrotendinous xanthomatosis?

People with cerebrotendinous xanthomatosis are missing the bile acid chenodeoxycholic acid (CDCA). Doctors treat the disorder by replacing the missing bile acid using an artificially-made version. This is called replacement therapy. Replacing CDCA can halt the progression of the disorder and even reverse certain symptoms. It can prevent symptoms in people who have not developed any symptoms yet. Many children treated with replacement therapy have had long-term success. It is extremely important that replacement therapy begin as soon as possible. Once neurological damage reaches a certain point, this treatment will no longer be able to undo the damage and reverse neurological deficits.

Chenodal® is a synthetic form of chenodeoxycholic acid that is used as a first-line therapy to treat individuals with CTX. Chenodal received an orphan drug designation from the Food and Drug Administration for the treatment of CTX in the U.S. in 2010. Chenodal is manufactured by a pharmaceutical company called Retrophin, Inc. 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.

Sometimes treatment with chenodeoxycholic acid is combined with another medication called a statin. Statins are drugs that reduce fat levels in the blood. Statins can block the function of an enzyme that is necessary for the creation of cholesterol in the liver. However, some doctors caution that these drugs actually can increase the levels of cholesterol and worsen the disorder. These drugs can also cause muscle damage.

A genetics professional nearby can discuss treatment options. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

References
  • Cerebrotendinous Xanthomatosis. National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/cerebrotendinous-xanthomatosis/. Updated 2014. Accessed April 10, 2016.
  • 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.
  • 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.
  • Cerqueira AC, Nardi AE, Bezerra JM. Cerebrotendinous xanthomatosis: a treatable hereditary neuro-metabolic disease. Clinics (Sao Paulo). 2010;65(11):1217-8.
Are there organ specific treatments/symptoms to treat cerebrotendinous xanthomatosis?

Some treatments for cerebrotendinous xanthomatosis are for specific symptoms of the disorder. Surgery may be necessary to remove cataracts. Medications may be used to treat specific symptoms: anti-seizure (anti-epileptics) for seizures, anti-depressants for depression, botulinum toxin for dystonia, and levodopa for Parkinson's disease. Treatment with coenzyme Q10, a compound that naturally is found in the body, may improve muscle weakness. Calcium and vitamin D supplements may be used to treat osteoporosis.

A genetics professional nearby can discuss treatment options. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

References
  • Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2014 Nov 26;9:179.
  • 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.

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