CTX, or cerebrotendinous xanthomatosis, is a rare, progressive, and underdiagnosed lipid storage disease affecting many parts of the body.1
In people with CTX, the body is unable to break down cholesterol properly, causing toxins (e.g., cholestaenol and bile alcohols) to build up throughout the body over time, which may lead to serious health issues.1,2 This accumulation of toxins can lead to classic signs of CTX that may be present alone or in combination, and at various stages of life. These include: chronic diarrhea; cataracts in both eyes; fatty deposits or growths in the tendons, known as xanthomas; and irreversible neurological damage.1,3
Chronic diarrhea may be the first sign of CTX, as approximately 50 percent of patients have this symptom as babies or in early childhood. In addition, most people with CTX often develop cataracts in both eyes, which is rare for pediatric patients, and may develop without an obvious cause. Another hallmark symptom is the presence of tendon xanthomas, or unusual fatty deposits or growths that develop in the tendons – especially the Achilles tendon at the back of the heel.3,4 More than half of people affected by CTX will develop tendon xanthomas, but typically not until their teenage years or later in life.3
CTX can lead to neurological damage of varying severity, ranging from learning disabilities in children to walking difficulties and early dementia in adults.4,5 However, with an early diagnosis and the right care, many of the serious, long-term effects of CTX can be avoided.3,6
Because the disorder affects many parts of the body, patients and healthcare professionals may not recognize the connection among the disparate, yet classic signs of CTX, leading to delayed diagnosis.3 Playing a role in this may be the general lack of awareness and understanding of CTX. In addition, due to the rarity and variability of the disorder and absence of data characterizing the natural history of CTX, it may be difficult for patients to find healthcare professionals with the knowledge base and practical experiences to ensure they receive a timely diagnosis and optimal care.
In 2015, we launched a long-term research study to determine the prevalence of the disorder among people two to 21 years old who have been diagnosed with bilateral cataracts, in order to support earlier diagnosis of CTX. Learn more about the CTX Prevalence Study. Learn more about CTX.
The following organizations may be a resource for information and support for people with CTX and those around them:
The United Leukodystrophy Foundation is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness and acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. The organization is supported solely by donations.
Global Genes is a non-profit patient advocacy organization working to eliminate the challenges of rare disease by building awareness, educating the global community, and providing critical connections and resources that equip advocates to become activists for their disease. Global Genes promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. Numerous tools, resources and educational events can be found on the Global Genes website www.globalgenes.org.
The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and service. In the US, NORD is also the official sponsor of Rare Disease Day, an annual global observance that raises awareness of rare diseases and elevates them into the public consciousness as an important health issue that cannot be ignored.
EURORDIS is a non-governmental patient-driven alliance of more than 700 rare disease patient organisations in more than 60 countries. EURORDIS strives to build a strong pan-European community of patient organisations and people living with a rare disease, to be their voice at the European level, and - directly or indirectly - to fight against the impact of rare diseases on their lives. EURORDIS leads global efforts for Rare Disease Day and the online social platform for people living with or affected by a rare diseases RareConnect. EURORDIS represents the voice of an estimated 30 million people living with a rare disease in Europe. Follow @eurordis or see the EURORDIS Facebook page. For more information visit: www.eurordis.org.
- Lorincz, et al. Arch Neurol 2005;62(9):1459-1463.
- Gallus GN, et al. Neurol Sci. 2006;27:143-149.
- Mignarri A, et al. J Inherit Metab Dis. 2014;37:421-429.
- Verrips A, et al. Brain. 2000;123:908-919.
- Fraidakis MJ. Transl Psychiatry. 2013;3:e302. doi:10.1038/tp.2013.76.
- Yahalom G, et al. Clin Neuropharm. 2013;36:78-83.