Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016–2022

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research Pub Date : 2025-03-10 DOI:10.1111/jir.13225

Callum Richard Thomas Kidson, Ne-Ron Loh, Yasir Ahmed Syed

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Abstract

Background

Tuberous sclerosis complex (TSC) is a genetic condition caused by mutations in either TSC1 or TSC2 genes, affecting around two million people globally. This study aims to examine causes of death in TSC and explore factors contributing to mortality in people with TSC in the United Kingdom in recent years following updated management and surveillance guidelines for the condition.

Methods

Comprehensive analysis of the available medical records of the people seen at the largest lifespan TSC clinic in the United Kingdom who passed away between 2016 and 2022 was conducted. Disease-related factors were identified, and the cause of death was determined. Where mortality cause was unobtainable, information was sought from the person's general practitioner, or their death certificate was obtained from the General Registry Office. Subsequently, the cohort was divided into subgroups to investigate potential risk factors for premature mortality. Our results were compared to that of previous TSC mortality studies.

Results

The study consisted of 19 deaths. Nine deaths were unequivocally attributed to TSC. These fatalities were due to epilepsy (n = 3/19), aspiration pneumonia (n = 3/19), SEGA (n = 1/19), hepatic AML (n = 1/19) and pNET (n = 1/19). Other causes included malignant cancer (n = 6/19), sepsis (n = 2/19), COVID-19 (n = 1/19) and stroke (n = 1/19). Renal failure was a secondary cause in two deaths.

Discussion

Compared to limited previous mortality studies, this cohort appears to be less affected by SUDEP. This group is also more greatly affected by cancer and presents a potential link between early mortality and renal AML size. Moreover, a clearer role of intellectual disability in mortality of people with TSC may have been identified. Most causes of mortality in this TSC cohort are potentially prevented with suitable interventions earlier.

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2016-2022年英国结节性硬化症的死亡率

背景：结节性硬化症（TSC）是一种由TSC1或TSC2基因突变引起的遗传病，影响全球约200万人。本研究旨在检查TSC的死亡原因，并探讨近年来在英国更新的TSC管理和监测指南后导致TSC患者死亡的因素。方法：对2016年至2022年间在英国最大寿命TSC诊所就诊的患者的现有医疗记录进行综合分析。确定了疾病相关因素，并确定了死亡原因。如果无法获得死亡原因，则向其全科医生询问，或从总登记处获得死亡证明。随后，该队列被分成亚组，以调查过早死亡的潜在危险因素。我们的结果与之前的TSC死亡率研究进行了比较。结果：本研究包括19例死亡病例。9人的死亡被明确地归咎于TSC。这些死亡是由于癫痫（n = 3/19）、吸入性肺炎（n = 3/19）、SEGA （n = 1/19）、肝性AML （n = 1/19）和pNET （n = 1/19）。其他原因包括恶性肿瘤（n = 6/19）、败血症（n = 2/19）、COVID-19 （n = 1/19）和中风（n = 1/19）。肾功能衰竭是两人死亡的次要原因。讨论：与之前有限的死亡率研究相比，该队列似乎受SUDEP的影响较小。这一群体受癌症的影响也更大，并且在早期死亡率和肾AML大小之间存在潜在的联系。此外，可能已经确定了智力残疾在TSC患者死亡率中的更明确作用。在这个TSC队列中，大多数死亡原因可以通过早期适当的干预措施加以预防。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Intellectual Disability Research Multiple-

CiteScore

5.60

自引率

5.60%

发文量

期刊介绍： The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.