A study published in the Journal of Clinical Lipidology evaluated maternal and neonatal outcomes of chenodeoxycholic acid (CDCA) treatment during gestation in women with cerebrotendinous xanthomatosis (CTX).
CTX is a rare lipid storage disease characterized by the inability to break down certain lipids effectively. As a result, xanthomas accumulate in the body, especially in the brain and the tendons. Symptoms may include diarrhea, cataracts, tendon problems, and progressive neurologic problems, such as epilepsy, movement disorders, dysarthria, peripheral neuropathy, dementia, hallucinations, and depression. Other symptoms may include osteoporosis and an increased risk of developing heart or lung failure. It is caused by genetic changes in the CYP27A1 gene.
This retrospective, multicenter study included 19 pregnancies in 12 women with CTX. Data was collected on maternal neurological status, pregnancy outcomes, neonatal characteristics, and long-term offspring development.
Of the 19 pregnancies, 16 resulted in live births and 3 ended in spontaneous abortions. The aborted cases all occurred in a single undiagnosed patient. No maternal neurological deterioration or fetal malformations were observed in CDCA-treated pregnancies.
However, adverse findings, including neurological decline in one mother, a case of spina bifida, and cognitive impairment in offspring, were observed in pregnancies without CDCA treatment. Additionally, no fetal or neonatal complications suggestive of CDCA-related toxicity were detected.
To learn more about CTX and other rare metabolic disorders, visit https://checkrare.com/diseases/metabolic-disorders/