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We have created a series of audio episodes, called the Rare Rundown, because rare diseases are complex, often misunderstood, and can feel isolating for patients and families. Our goal is simple: to provide clear, helpful information about rare diseases in short, focused episodes. By offering multiple formats for learning, we hope to help more patients (and their families) break through the isolation of the unknown when it comes to rare diseases.
Each week, we'll tackle topics that matter most to those living with rare conditions. We'll break down medical information, share practical insights, and bring together the experiences of patients, caregivers, and medical experts.
The latest episode of the Rare Rundown is focused on cerebrotendinous xanthomatosis (CTX), a rare but treatable genetic disorder. This discussion highlights what causes CTX and the crucial role genetics play in its development. In particular, this episode explores mutations in the CYP27A1 gene, the primary genetic cause of CTX.
The CYP27A1 gene provides instructions for producing an enzyme called sterol 27-hydroxylase. This enzyme plays a key role in breaking down cholesterol and bile acids. Mutations in the CYP27A1 gene lead to a buildup of cholestanol and cholesterol in various tissues, resulting in the hallmark symptoms of CTX, such as tendon xanthomas (lumps or bumps on tendons), neurological decline, and cataracts.
There are effective treatment & management options for CTX, particularly if diagnosed early. Therapies such as chenodeoxycholic acid (CDCA) can significantly improve symptoms and prevent disease progression. This episode also highlights the importance of early diagnosis through genetic testing and symptom awareness.
The episode covers critical topics, including:
If you or a loved one has concern over CTX-like symptoms, please consider applying for the free genetic testing program for possible CTX patients.
For more information on cerebrotendinous xanthomatosis, please explore our other blog posts on the topic.
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