UCL Queen Square Institute of Neurology, University College London, London, UK.
The Lindo Wing, St Mary's Hospital, Imperial College NHS Healthcare Trust, London, UK.
Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):510-519. doi: 10.1002/ajmg.c.31951. Epub 2021 Nov 12.
Dysautonomia (autonomic dysfunction) occurs in the Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). Symptoms include palpitations, dizziness, presyncope, and syncope, especially when standing upright. Symptoms of orthostatic intolerance are usually relieved by sitting or lying and may be exacerbated by stimuli in daily life that cause vasodilatation, such as food ingestion, exertion, and heat. Neurocardiovascular dysautonomia may result in postural tachycardia syndrome (PoTS), a major cause of orthostatic intolerance. It is defined by a rise in heart rate of >30 beats per minute (bpm) in adults and >40 bpm in teenagers while upright, without a fall in blood pressure (BP; orthostatic hypotension). In some, it can be compounded by the presence of low BP. For many, there is delay in clinicians recognizing the nature of the symptoms, and recognizing EDS or HSD, leading to delays in treatment. The onset of PoTS may be linked to an event such as infection, trauma, surgery, or stress. Gastrointestinal and urinary bladder involvement may occur, along with thermoregulatory dysfunction. In some, the mast cell activation syndrome may be contributary, especially if it causes vasodilatation. This paper reviews neurocardiovascular dysautonomia with an emphasis on PoTS, its characteristics, associations, pathophysiology, investigation, and treatment.
自主神经功能障碍(自主功能障碍)发生在埃勒斯-当洛斯综合征(EDS)和高活动性谱障碍(HSD)中。症状包括心悸、头晕、晕厥前状态和晕厥,尤其是直立时。直立不耐受的症状通常通过坐或躺来缓解,并且可能会因日常生活中的血管扩张刺激而加剧,如食物摄入、用力和热。神经心血管自主神经功能障碍可能导致体位性心动过速综合征(PoTS),这是直立不耐受的主要原因。其定义为成年人直立时心率增加>30 次/分钟(bpm),青少年增加>40 bpm,而血压(BP;直立性低血压)不下降。在某些情况下,它可能与低血压同时存在。对于许多人来说,临床医生识别症状的性质、识别 EDS 或 HSD 的时间会延迟,导致治疗延迟。PoTS 的发作可能与感染、创伤、手术或压力等事件有关。可能会出现胃肠道和膀胱功能障碍,同时还会出现体温调节功能障碍。在某些情况下,肥大细胞激活综合征可能是促成因素,尤其是如果它导致血管扩张。本文重点介绍了神经心血管自主神经功能障碍,特别是体位性心动过速综合征,包括其特征、关联、病理生理学、检查和治疗。