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Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder that can severely impact a patient’s life starting from infancy. Anyone who has read an overview on CTX knows it is a complex and rare disease with symptoms that are constantly evolving. The lack of awareness of CTX, combined with the complexity of the disease, means patients continue to have unanswered questions.
We’ve set out to answer some of the most frequently asked questions about CTX as well as provide some resources that might be helpful for patients trying to better understand this condition.
CTX is a rare genetic disorder that disrupts the body's ability to metabolize cholesterol. This leads to a buildup of cholesterol and cholestanol in various tissues, particularly the brain, tendons, and eyes.
Symptoms can vary widely and appear at different stages of life. Early signs often include chronic diarrhea and bilateral cataracts in young adults, infancy or childhood. Pediatric cataracts are rare and a strong signal to consider testing for CTX, especially paired with other symptoms. As the condition progresses, tendon xanthomas (cholesterol deposits), neurological problems (cognitive decline, spasticity, ataxia), and premature atherosclerosis can develop.
Tendon xanthomas are a key symptom of CTX but are not widely understood or recognized. So what are they? Simply put, xanthomas are cholesterol deposits that form on tendons. A patient may find lumps on their achilles, patella, hand, elbow, or neck tendons. The deposits can often be described by patients as jumps or bumps on the tendons.
Diagnosis often involves a combination of clinical evaluation, genetic testing, and specialized blood tests. Genetic testing for the CYP27A1 gene mutation confirms the diagnosis. Elevated levels of cholestanol in the blood can also support the diagnosis, but this test isn't always readily available.
A patient’s physician can order genetic testing if CTX is suspected. If insurance/financial burden or access to a physician is an issue, patients with CTX-like symptoms can apply for genetic testing through Probably Genetic. Probably Genetic offers no-cost genetic testing for individuals in the United States who are experiencing multiple CTX symptoms. After testing, patients receive a free session with a licensed genetic counselor, who can help interpret the results and create a personalized care plan. Click here to check your (or a loved one’s) eligibility for free genetic testing and counseling through our short online assessment.
Early diagnosis and treatment are crucial to preventing irreversible damage and improving long-term outcomes for CTX patients.
The long-term outlook for individuals for CTX varies depending on the severity of the disease and the age at which treatment begins.
It's important to note that even with treatment, some individuals may still experience progressive neurological decline.
CTX is a genetic disorder, so it cannot be prevented. However, early diagnosis and treatment can significantly alter the course of the disease and improve quality of life.
CTX is often misdiagnosed due to its rarity and the wide range of symptoms, which can overlap with other conditions. This can lead to a delay in proper treatment and potential for irreversible damage.
Genetic testing provides a definitive diagnosis of CTX. Genetic counselors can help individuals and families understand the implications of a CTX diagnosis, including inheritance patterns and treatment options. They also provide support and resources to help families navigate the challenges of living with this rare disorder.
Here are some reputable sources where you can find more information and support:
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