Saint Barnabas Institute of Neurology and Neurosurgery, United States.
University of Pennsylvania Perelman School of Medicine, United States.
Epilepsy Behav. 2021 Aug;121(Pt A):108032. doi: 10.1016/j.yebeh.2021.108032. Epub 2021 Jun 1.
We studied mortality in tuberous sclerosis complex (TSC) by analyzing data from the Tuberous Sclerosis Alliance Natural History Database of 2233 patients from 18 United States TSC centers. Among 31 decedents with data; mean age of death was 29 years. Cause of death could be determined in 26 cases: 11 definitely related to TSC, 14 possibly related to TSC, and 1 unrelated to TSC. Causes of death included SUDEP in 11 (35.5%; Definite (5), Probable (4), Possible (2)), respiratory conditions in 6 (23.1%; lymphangiomyelomatosis in one), tumors in 3 (11.5%), suicide in 2 (7.7%), cardiopulmonary in 2 (7.7%), shunt malfunction in one, and drowning in one. For SUDEP cases, mean age of epilepsy onset was 7 months and 10/11 were treated with multiple anti-seizure medications (ASMs) at death; 7 had intractable epilepsy and 3 were controlled with ASMs. Patients with TSC and their families should be counseled about ASM adherence and lifestyle factors, and the potential role of nocturnal supervision or seizure detection devices to prevent SUDEP.
我们通过分析来自美国 18 个 TSC 中心的 2233 名患者的 Tuberous Sclerosis Alliance 自然历史数据库中的数据，研究了结节性硬化症复合征（TSC）的死亡率。在 31 名有数据记录的死亡患者中，平均死亡年龄为 29 岁。在 26 例可确定死因的病例中：11 例明确与 TSC 有关，14 例可能与 TSC 有关，1 例与 TSC 无关。死因包括猝死者 11 例（35.5%；明确（5）例，可能（4）例，可能（2）例），呼吸系统疾病 6 例（淋巴管肌瘤病 1 例），肿瘤 3 例（11.5%），自杀 2 例（7.7%），心肺 2 例（7.7%），分流器故障 1 例，溺水 1 例。猝死者中，癫痫发病的平均年龄为 7 个月，11 例均在死亡时接受多种抗癫痫药物（ASM）治疗；7 例患有难治性癫痫，3 例用 ASM 控制。应向 TSC 患者及其家属提供有关 ASM 依从性和生活方式因素的咨询，以及夜间监护或癫痫发作检测设备的潜在作用，以预防猝倒。
