Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, USA.
Medical Genetics Clinic, Mary Bridge Children's/MultiCare Health System, Tacoma, USA.
Orphanet J Rare Dis. 2024 Jan 2;19(1):4. doi: 10.1186/s13023-023-03015-7.
Patients with tuberous sclerosis complex (TSC) face an increased risk of maternal health complications and worsening disease manifestations during pregnancy. There are no established consensus guidelines that address the management of pregnancy in patients with TSC and healthcare providers rely on their individual experiences and preferences to derive treatment decisions. We sought to obtain provider opinion of pregnancy related maternal complications in patients with TSC, and the common evaluation and management strategies used to address these issues.
We conducted a cross-sectional survey of healthcare providers with diverse areas of expertise related to the multisystem nature of involvement in TSC. Descriptive analyses were used to analyze our three primary variables: (1) provider recognition of maternal risks/complications; (2) provider recommendations before and during pregnancy; and (3) provider/clinic protocols.
We received responses from 87 providers from 11 countries, with 40.7% (n = 35) seeing > 30 TSC patients yearly. The majority of providers (n = 70, 88.6%) deemed that a patient with TSC needed expert care beyond the standard of care for a typical pregnancy, with over 25% of providers reporting that they have seen lymphangioleiomyomatosis (LAM) exacerbation, seizures, and preterm labor in pregnant patients with TSC. Providers who managed patients treated with mTOR inhibitors (mTORi) also agreed that mTORi use should be stopped prior to pregnancy (n = 45, 68.2%) but there was uncertainty about when to stop the mTORi (one month 28.9%, two months 11.1%, three months 42.2%, and 6-12 months 2.2%). Additionally, there were mixed opinions on restarting mTORi in response to disease progression during pregnancy. When asked about provider or clinic specific protocols, 71.6% (n = 53) of providers stated that they do not have a clear protocol for management decisions for patients with TSC before or during pregnancy.
Healthcare providers recognize that patients with TSC are at an increased risk for maternal health complications during pregnancy. However, there are wide inter-individual variances in practice, especially pertaining to decisions regarding mTORi use. There is a critical need to better understand the implications of pregnancy for patients with TSC, and to draft consensus recommendations to guide management decisions.
结节性硬化症（TSC）患者在妊娠期间面临母体健康并发症风险增加和疾病表现恶化的风险。目前尚无针对 TSC 患者妊娠管理的既定共识指南，医疗保健提供者依赖其个人经验和偏好来制定治疗决策。我们旨在了解提供者对 TSC 患者妊娠相关母体并发症的看法，以及用于解决这些问题的常见评估和管理策略。
我们对具有 TSC 多系统受累相关专业知识的医疗保健提供者进行了横断面调查。使用描述性分析来分析我们的三个主要变量：（1）提供者对母体风险/并发症的认识；（2）妊娠前和妊娠期间的提供者建议；和（3）提供者/诊所方案。
我们收到了来自 11 个国家的 87 名提供者的回复，其中 40.7%（n=35）每年看诊的 TSC 患者超过 30 名。大多数提供者（n=70，88.6%）认为，TSC 患者需要超越典型妊娠标准的专家护理，超过 25%的提供者报告在 TSC 妊娠患者中看到了淋巴管平滑肌瘤病（LAM）恶化、癫痫发作和早产。管理接受 mTOR 抑制剂（mTORi）治疗的患者的提供者也同意应在妊娠前停止使用 mTORi（n=45，68.2%），但对于何时停止 mTORi 存在不确定性（一个月 28.9%，两个月 11.1%，三个月 42.2%，六至十二个月 2.2%）。此外，对于在妊娠期间疾病进展时是否重新开始使用 mTORi 存在不同意见。当被问及提供者或诊所特定方案时，71.6%（n=53）的提供者表示，他们在妊娠前或妊娠期间没有针对 TSC 患者管理决策的明确方案。
医疗保健提供者认识到 TSC 患者在妊娠期间母体健康并发症的风险增加。然而，实践中存在广泛的个体差异，特别是在涉及 mTORi 使用的决策方面。迫切需要更好地了解妊娠对 TSC 患者的影响，并制定共识建议来指导管理决策。
