Study highlights 25-year diagnostic delay in patients with cerebrotendinous xanthomatosis
There is a significant delay in diagnosing cerebrotendinous xanthomatosis (CTX), often by 25 years after the initial symptoms appear, according to a new study that highlights the need for greater awareness and early screening, especially when typical signs like cataracts or tendon xanthomas are present, to prevent severe neurological and psychiatric complications associated with the disease.
The study included 11 patients from 5 families, all diagnosed at a pediatric metabolism clinic in Turkey through elevated blood cholestanol levels and CYP27A1 gene analysis.
Key Findings:
- The average delay in CTX diagnosis was 25 years from the onset of symptoms.
- Diagnosis was triggered by:
- Bilateral cataracts in 2 patients.
- Tendon xanthomas in 2 patients.
- Family screening in 7 patients.
- Clinical features included:
- Tendon xanthomas (36.3%)
- Cataracts (54.5%)
- Mental retardation (72%)
- Psychiatric symptoms (36%)
- Epilepsy (36%)
- Motor abnormalities (45%)
- Genetic findings:
- No tendon xanthomas in patients with c.1263 + 4A>T and c.808C>T mutations.
- All patients with homozygous c.1263 + 4A>T mutation had cataracts.
Early recognition of CTX symptoms is crucial to prevent long diagnostic delays and severe complications, the researchers concluded.
Reference
Bilgin H, Yolbas I, Tekes S. The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population. J Clin Lipidol. 2024;S1933-2874(24)00239-3. doi: 10.1016/j.jacl.2024.08.010. Epub ahead of print. PMID: 39537506.
