Flammer Josef, Konieczka Katarzyna
Department of Ophthalmology, University of Basel, Mittlere Strasse 91, CH-4031 Basel, Switzerland.
EPMA J. 2017 May 22;8(2):75-97. doi: 10.1007/s13167-017-0090-x. eCollection 2017 Jun.
This review describes the clinical and basic research that led to the description of Flammer syndrome. It is narrated from a personal perspective. This research was initiated by the observation of an increased long-term fluctuation of visual fields in a subgroup of glaucoma patients. As these patients had strikingly cold hands, peripheral blood flow was tested with a capillary microscopy, and vasospastic syndrome (VS) was diagnosed. Further studies on these patients revealed frequently weakened autoregulation of ocular blood flow and increased flow resistivity in retroocular vessels. Their retinal vessels were more rigid and irregular and responded less to flickering light. Holistic investigation demonstrated low blood pressure, silent myocardial ischaemia, altered beat-to-beat variation, altered gene expression in the lymphocytes, slightly increased plasma endothelin level and increased systemic oxidative stress. This combination of signs and symptoms was better described by the term primary vascular dysregulation (PVD) than by VS. Subsequent studies showed additional symptoms frequently related to PVD, such as low body mass index, cold extremities combined with slightly increased core temperature, prolonged sleep onset time, reduced feelings of thirst, increased sensitivity to smell and also for certain drugs and increased retinal venous pressure. To better characterise this entire syndrome, the term Flammer syndrome (FS) was introduced. Most subjects with FS were healthy. Nevertheless, FS seemed to increase the risk for certain eye diseases, particularly in younger patients. This included normal-tension glaucoma, anterior ischaemic optic neuropathy, retinal vein occlusions, Susac syndrome and central serous chorioretinopathy. Hereditary diseases, such as Leber's optic neuropathy or retinitis pigmentosa, were also associated with FS, and FS symptoms and sings occurred more frequent in patients with multiple sclerosis or with acute hearing loss. Further research should lead to a more concise definition of FS, a precise diagnosis and tools for recognizing people at risk for associated diseases. This may ultimately lead to more efficient and more personalised treatment.
本综述描述了促成弗拉默综合征描述的临床和基础研究。它是从个人视角叙述的。这项研究始于对一组青光眼患者视野长期波动增加的观察。由于这些患者双手明显冰冷,遂用毛细血管显微镜检测外周血流,并诊断为血管痉挛综合征(VS)。对这些患者的进一步研究显示,眼血流的自动调节功能常常减弱,眼后血管的血流阻力增加。他们的视网膜血管更僵硬、不规则,对闪烁光的反应更小。全面调查显示血压低、无症状心肌缺血、逐搏变化改变、淋巴细胞基因表达改变、血浆内皮素水平略有升高以及全身氧化应激增加。用原发性血管调节异常(PVD)这一术语比用VS能更好地描述这种症状和体征的组合。随后的研究显示了其他常常与PVD相关的症状,如低体重指数、四肢冰冷并伴有核心体温略有升高、入睡时间延长、口渴感降低、嗅觉以及对某些药物的敏感性增加和视网膜静脉压升高。为了更好地描述这一整个综合征,引入了弗拉默综合征(FS)这一术语。大多数患有FS的受试者是健康的。然而,FS似乎会增加某些眼病的风险,尤其是在年轻患者中。这包括正常眼压性青光眼、前部缺血性视神经病变、视网膜静脉阻塞、Susac综合征和中心性浆液性脉络膜视网膜病变。遗传性疾病,如Leber视神经病变或视网膜色素变性,也与FS有关,FS的症状和体征在多发性硬化症或急性听力丧失患者中出现得更频繁。进一步的研究应能对FS给出更精确的定义、做出准确的诊断并提供识别相关疾病高危人群的工具。这最终可能会带来更有效、更个性化的治疗。