AI Article Synopsis
- Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder affecting bile acid synthesis that leads to various symptoms over time.
- Early treatment with chenodeoxycholic acid (CDCA) is effective in managing CTX, but pregnant patients often face dilemmas about whether to continue treatment due to potential risks to the fetus.
- Two women with CTX shared their experiences during pregnancy, ultimately deciding to continue CDCA treatment based on reassurance from their specialist, with varying pregnancy outcomes but no CDCA-related complications reported.
Article Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive disorder of bile acid synthesis that presents with varied and progressive symptomology. Early treatment with chenodeoxycholic acid (CDCA) improves symptoms and slows degeneration. Patients with CTX are commonly recommended to discontinue CDCA treatment during pregnancy because of theoretical risks to the fetus, but patient and clinician concerns about the risks of stopping treatment cause uncertainty. Herein, we report the experiences and perspectives of two women with CTX from the time of diagnosis through pregnancy, as well as decisions regarding CDCA treatment during pregnancy. Before becoming pregnant, both women were concerned about potential risks to their newborns if they continued or stopped CDCA treatment during pregnancy. Reassurance from their CTX specialist was the primary factor in their decision to continue treatment during pregnancy. After pregnancies complicated by preeclampsia, one gave birth to a healthy infant and the other gave birth to an infant later diagnosed with periventricular leukomalacia. Neither experienced CDCA-related complications.
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| http://dx.doi.org/10.1016/j.jacl.2023.07.002 | DOI Listing |
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