Ophthalmologists urged to consider CTX in young patients with cataracts and malar rash
Ophthalmologists should be vigilant in recognizing juvenile cataracts and malar rash as potential early indicators of cerebrotendinous xanthomatosis (CTX), according to a study that underscores the importance of considering both ocular and systemic symptoms for comprehensive patient care.
The study included 12 definitively diagnosed patients with CTX to assess their responses to chenodeoxycholic acid (CDCA) treatment.
Key Findings
- Prevalence of Juvenile Cataracts: More than 90% (11 out of 12) of the patients in the study were found to have juvenile cataracts, making it the most common clinical finding. This is significant for eye doctors as early detection of cataracts could be a crucial indicator for diagnosing CTX.
- Malar Rash: A malar rash was present in 75% (9 out of 12) of the patients. This finding is particularly noteworthy as it has not been previously reported in the literature for CTX. The presence of a malar rash, coupled with other symptoms, could serve as a new diagnostic marker for early identification of CTX.
- Neurological Symptoms: Hand tremors were observed as the first neurological symptom in adolescence and were the initial symptom of the disease in five patients. Overall, 83.3% (10 out of 12) of the patients experienced hand tremors.
The high prevalence of juvenile cataracts in CTX patients underscores the importance of eye examinations in the early diagnosis of CTX. Eye doctors should consider CTX as a potential underlying cause when diagnosing young patients with cataracts.
Reference
Yılmaz BK, Çelik H. Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them. J Clin Lipidol. 2024;18(3):e452-e464. doi: 10.1016/j.jacl.2024.02.009. Epub 2024 Feb 28. PMID: 38461119.
