Large bumps on the Achilles heel can reveal cerebrotendinous xanthomatosis (CTX)
Tendon xanthomas are fatty deposits or bumps on the tendons. You may not have even noticed these bumps growing until they were larger. The most common cause of tendon xanthomas is a lipid disease called familial hypercholesterolemia. Another cause could be CTX. However, in CTX, tests can show low to normal cholesterol levels and high amounts of cholestanol.
Over 50% of people affected by CTX experienced tendon xanthomas, but typically not until their teenage years or later.
- If you notice tendon xanthomas during the teenage years, talk to your doctor about testing for CTX immediately.
- If you notice tendon xanthomas in a person with a history of prolonged jaundice, frequent diarrhea, or vision problems, talk to your doctor about testing for CTX immediately.
Some examples of how CTX can show up with tendon xanthomas in a teenager:
- Tendon xanthomas with normal cholesterol
- Tendon xanthomas and attention deficit hyperactivity disorder
- Tendon xanthomas and behavioral problems
- Tendon xanthomas and personality disorder
- Tendon xanthomas and early cataracts in both eyes
- Tendon xanthomas, seizures, and history of frequent diarrhea