What are the main signs &
symptoms of CTX?
CTX can be described as having several signs and symptoms. Some are more common than others — early cataracts in both eyes, neurological problems and/or tendon xanthomas (noncancerous fatty tumors on the tendons), cholestasis (which may be seen as jaundice in infants), and/or frequent diarrhea — but there are other symptoms too.
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Early
Cataracts in Both Eyes
Neurological Deterioration/ Movement Disorders
Tendon Xanthomas
Neonatal Cholestasis/ Prolonged Jaundice
Chronic Diarrhea
5 main symptoms of CTX
CTX symptoms may vary and show up at different times in a person’s life.
- It can take years for toxins, such as cholestanol, to build up enough in the body to cause problems.
- More than one symptom may appear at the same time, but not all possible symptoms of CTX affect every individual.
- Make sure to consider the age of your loved one and look for all symptoms that may suggest CTX at that age.
- If you or your loved has more than one of the main symptoms of CTX, there may be a greater likelihood of CTX.
- Genetic testing may be required to confirm CTX.
If you or a loved one could have CTX, talk to your doctor about getting a diagnosis. Mirum offers 2 different no-cost genetic panels* that can help confirm a CTX diagnosis. Your doctor can decide which panel is most appropriate.
Clickherefor Sponsored Genetic Testing*Eligibility criteria apply
Early Cataracts in Both Eyes
Early-onset cataracts in both eyes, also called bilateral cataracts, with no obvious cause may mean a person has CTX.
Normally, cataracts develop much later in life and are part of the normal aging process. In CTX, most people experience cataracts in both eyes while they are still young, usually between 4 and 18 years of age.
- Approximately 85% of patients with CTX experience early cataracts in both eyes, which can appear in patients as early as childhood or infancy.
- The cataracts in CTX may cause blurry vision.
- While these cataracts can and should be surgically removed, that will only resolve this one symptom of CTX.
Neurological Problems
Early neurological signs in CTX are usually subtle and can be mistaken for other conditions.
It can take years for neurological problems to show up in people with CTX due to the slow build-up of toxins in the brain over time.
Developmental delays, attention deficit hyperactivity disorder (ADHD), behavioral problems, and learning disabilities have become routine things to watch out for in school-aged children. Although these problems can have many causes, one of these causes could be CTX.
Movement disorder symptoms can be described as having imbalance, dizziness, or leg weakness. If you, or someone you know, has unexplained imbalance, dizziness, or leg weakness AND a history of early-onset (occurring as a child/adolescent) cataracts (along with other non-specific symptoms), CTX should be suspected.
>50% have an intellectual disability, such as a learning disorder that shows up during school years
Approximately 50% have some kind of disturbance in their mental health
~50% have experienced seizures
~70% have pyramidal signs, which are symptoms that occur when there is a problem with the brain's nerve pathways, making it harder for the brain to send messages to the muscles. This could cause issues like abnormal movements and reflexes, and muscle stiffness
60% have issues related to the cerebellum, which is the part of the brain that helps with balance and coordination
- Brain imaging has shown that worsening unsteady walk with weakness in the lower body is common in adult patients with CTX
- Cerebellar ataxia usually starts to show up when patients are in their 20s or 30s. In this condition, patients have poor coordination and balance owing to damage to the part of the brain called the cerebellum or its connections
Tendon Xanthomas (zan-tho-mas)
Large bumps on the Achilles heel (tendon xanthomas) can be a sign of CTX.
The most common cause of tendon xanthomas is a lipid disease called familial hypercholesterolemia.
If it is not due to familial hypercholesterolemia, then you should talk to your doctor about CTX.
- Tendon xanthomas are fatty deposits or bumps on the tendons. You may not have even noticed these bumps growing until they were larger.
- Tendon xanthomas most often affect the Achilles tendons but can also appear on the knuckles and elbows.
CTX should be suspected in patients with tendon xanthomas and normal serum triglycerides and cholesterol.
Talk to your doctor about testing for CTX:
- If you notice tendon xanthomas during the teenage years or later OR
- If you notice tendon xanthomas in a person with a history of prolonged jaundice, frequent diarrhea, or vision problems.
Cholestasis in Infants (seen as prolonged jaundice)
One of the earliest signs of CTX can be cholestasis.
Cholestasis (seen as prolonged jaundice) is a condition caused by damaged flow of bile fluids in the body. Cholestasis has many causes. In CTX, cholestasis usually only shows up during infancy.
- Prolonged jaundice in an infant is seen in a yellowing of the skin or whites of the eyes that does not seem to go away.
- If prolonged jaundice showed up during infancy but ended up going away on its own, it still makes sense to talk to a doctor about testing for CTX.
Frequent Diarrhea
Unexplained diarrhea with other uncommon symptoms can be an early sign of CTX.
Diarrhea is a condition in which a person has loose, watery, stools at least three times in one day. Diarrhea is a common problem, and may be caused by infections, food poisoning, digestive problems, and side effects of medicines.
- In people with CTX, diarrhea lasts a long time and does not go away.
- Diarrhea during childhood with no other symptoms of CTX is typically not enough to suspect CTX.
- However, if you or your loved one has other symptoms common to CTX, such as neurological problems, then the cause may be CTX.
