骨化性纤维化是一种罕见的遗传性疾病,其特征是进行性异位骨化。疾病发作,严重程度和症状因FOP患者而异,所谓爆发的频率和活动也是如此,在肌腱期间,韧带,肌肉和软组织被骨骼取代。创伤,感染或其他应激源是已知的突发诱因,和激素激活素A可能参与疾病活动;然而,FOP活性的可靠生物标志物缺失,患者的基础微量元素和炎症状态未知。我们假设FOP患者出现炎症相关微量元素的特征性缺陷,并表现出慢性增加的炎症细胞因子水平。集体加重病程和突发风险。在最高质量标准下收集来自15名FOP患者和25名亲属的血清样品。铜的浓度,通过全反射X射线荧光测定Se和Zn,和27细胞因子以及激活素A通过特异性基于抗体的技术。对数据进行正态分布检验,并通过参数或非参数检验进行分析。硒和铜的浓度在两组之间没有差异,与对照组相比,FOP中的Zn水平略高(1110±251vs.970±176ng/ml,P=0.04)。细胞因子和激活素A的平均浓度没有差异。当关注两名自我报告的突发患者时,再次没有明显差异。细胞因子Eotaxin,G-CSF,hbFGF和TNF-α在测量浓度的上半部分,并可能需要进一步的纵向分析。我们的数据不支持以下假设:FOP患者表现出微量元素的特征性模式或促炎细胞因子的语气普遍增加。
Fibrodysplasia Ossificans Progressiva (FOP) is a rare inherited disease characterized by progressive heterotopic ossification. Disease onset, severity and symptoms vary between FOP patients, as does the frequency and activity of so-called flare-ups, during which tendons, ligaments, muscle and soft tissue are replaced by bone. Traumata, infections or other stressors are known inducers of flare-ups, and the hormone Activin A may be involved in disease activity; however, reliable biomarkers for FOP activity are missing, and the basal trace element and inflammatory state of patients are unknown. We hypothesized that FOP patients develop characteristic deficiencies in inflammation-related trace elements and display a chronically increased inflammatory cytokine level, collectively aggravating disease course and flare-up risk. Serum samples from 15 FOP patients and 25 relatives were collected under highest quality standards. Concentrations of Cu, Se and Zn were determined by total reflection X-ray fluorescence, and 27 cytokines along with Activin A by specific antibody-based techniques. Data were tested for normal distribution and analyzed by parametric or non-parametric tests. Concentrations of Se and Cu were not different between the groups, while Zn levels were slightly higher in FOP as compared to controls (1110±251 vs. 970±176ng/ml, P=0.04). The average concentrations of cytokines and Activin A were not different. When focusing on the two patients with self-reported flare-ups, again no obvious differences were noted. The cytokines Eotaxin, G-CSF, hbFGF and TNF-α were within the upper half of measured concentrations, and may warrant further longitudinal analyses. Our data do not support the hypothesis that FOP patients display a characteristic pattern of trace elements or have a generally increased tone of pro-inflammatory cytokines.