Center for Preventive Cardiology, Knight Cardiovascular Institute, Oregon Health & Science University, Portland, OR, USA; Division of Endocrinology, Diabetes, and Clinical Nutrition, Oregon Health & Science University, Portland, OR, USA.
Travere Therapeutics, Inc., San Diego, CA.
J Clin Lipidol. 2023 Sep-Oct;17(5):700-703. doi: 10.1016/j.jacl.2023.07.002. Epub 2023 Jul 17.
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.
脑腱性黄瘤病（CTX）是一种罕见的、常染色体隐性胆汁酸合成障碍疾病，其临床表现具有多样性和进行性。早期应用鹅脱氧胆酸（CDCA）治疗可改善症状并减缓退化。由于理论上对胎儿存在风险，CTX 患者通常被建议在怀孕期间停止 CDCA 治疗，但患者和临床医生对停止治疗的风险感到担忧，这导致了不确定性。本文报告了两位 CTX 患者从诊断到怀孕期间的经历和观点，以及她们在怀孕期间对 CDCA 治疗的决策。在怀孕之前，这两位女性都担心如果她们在怀孕期间继续或停止 CDCA 治疗，会对新生儿造成潜在风险。CTX 专家的保证是她们决定在怀孕期间继续治疗的主要因素。在怀孕并发子痫前期后，一位生下了健康的婴儿，另一位生下的婴儿后来被诊断为脑室周围白质软化症。这两位患者都没有出现与 CDCA 相关的并发症。
