Hamer Hajo M, Pfäfflin Margarete, Baier Hartmut, Bösebeck Frank, Franz Melanie, Holtkamp Martin, Kurlemann Gerhard, May Theodor W, Mayer Thomas, Metzner Mirjam, Steinhoff Bernhard J, Stodieck Stefan, Straub Hans-Beatus, Weber Yvonne G, Brandt Christian
Epilepsiezentrum, Neurologische Klinik, Universitätsklinikum Erlangen, Germany.
Gesellschaft für Epilepsieforschung e.V., Bielefeld, Germany.
Epilepsy Behav. 2018 May;82:64-67. doi: 10.1016/j.yebeh.2018.03.006. Epub 2018 Mar 26.
The objective of the present study was to collect systematic data on the care of adult patients with tuberous sclerosis complex (TSC) in German epilepsy centers, to describe the characteristics of patients in this age group, and to clarify whether and how the recommended interdisciplinary care is implemented.
This retrospective survey involved 12 major epilepsy centers in Germany. Aggregated data were collected based on an electronic questionnaire that addressed the sociodemographic data, characteristics of the epilepsy syndromes, and general healthcare setting of adult patients with TSC.
The survey included 262 patients (mean age: 36.2±9.0years) with TSC, most of whom were reported to live in either a home for persons with a disability (37.0%), a residential care home (6.9%), or with their parents (31.1%). A further 13.0% were self-sustaining, and 8.8% were living with a partner. Most patients presented with focal (49.6%) or multifocal (33.2%) epilepsy, with complex partial, dialeptic, and automotor seizures in 66% of patients and generalized tonic-clonic seizures in 63%. Drug-refractory epilepsy was seen in 78.2% of patients, and 17.6% were seizure-free at the time of the survey. Of the 262 patients, presurgical diagnostics were performed in 27% and epilepsy surgery in 9%, which rendered 50% of these patients seizure-free. Renal screening had been performed in 56.1% within the last three years and was scheduled to be performed in 58.0%. Cases of renal angiomyolipoma were present in 46.9% of the patients. Dermatologic and pulmonary screenings were known to be planned for only few patients.
Despite TSC being a multisystem disorder causing considerable impairment, every fifth adult patient is self-sustaining or living with a partner. In clinical practice, uncontrolled epilepsy and renal angiomyolipoma are of major importance in adult patients with TSC. Most patients suffer from focal or multifocal epilepsy, but epilepsy surgery is performed in less than 10% of these patients. Interdisciplinary TSC centers may help to optimize the management of patients with TSC regardless of age and ensure early and adequate treatment that also considers the advances in new therapeutic options.
本研究的目的是收集德国癫痫中心成年结节性硬化症（TSC）患者护理的系统数据，描述该年龄组患者的特征，并阐明推荐的多学科护理是否以及如何得到实施。
这项回顾性调查涉及德国12个主要癫痫中心。基于一份电子问卷收集汇总数据，该问卷涉及成年TSC患者的社会人口统计学数据、癫痫综合征特征和一般医疗保健情况。
该调查纳入了262例TSC患者（平均年龄：36.2±9.0岁），其中大多数患者据报告居住在残疾人之家（37.0%）、养老院（6.9%）或与父母同住（31.1%）。另有13.0%的患者能够自给自足，8.8%的患者与伴侣同住。大多数患者表现为局灶性（49.6%）或多灶性（33.2%）癫痫，66%的患者出现复杂部分性、双相性和自动症发作，63%的患者出现全身性强直-阵挛发作。78.2%的患者患有药物难治性癫痫，17.6%的患者在调查时无癫痫发作。在262例患者中，27%的患者进行了术前诊断，9%的患者接受了癫痫手术，其中50%的患者术后无癫痫发作。在过去三年中56.1%的患者进行了肾脏筛查，另有58.0%的患者计划进行肾脏筛查。46.9%的患者存在肾血管平滑肌脂肪瘤。只有少数患者计划进行皮肤科和肺部筛查。
尽管TSC是一种导致严重损害的多系统疾病，但每五分之一的成年患者能够自给自足或与伴侣同住。在临床实践中，癫痫不受控制和肾血管平滑肌脂肪瘤在成年TSC患者中至关重要。大多数患者患有局灶性或多灶性癫痫，但接受癫痫手术的患者不到10%。多学科TSC中心可能有助于优化TSC患者的管理，无论其年龄大小，并确保早期和充分的治疗，同时也考虑到新治疗选择的进展。
