一名66岁的1型神经纤维瘤病(NF1)患者多关节疼痛9年,加重了两天,从急诊重症监护病房(EICU)转移到我们的风湿病科。九年前,她被基因突变检测和冠心病(CHD)诊断为NF1。这次患者被诊断为类风湿性关节炎(RA)。用适当的药物治疗24天后,患者关节疼痛缓解出院。然而,大约四个月后,患者死于心肌梗死引起的循环衰竭。我们分析了她结局的可能原因,并对文献进行了综述。NF1并发RA的临床报道较少。我们在搜索过程中发现了最新文献中报道的5例病例,并将其纳入我们的通讯中以与我们的病例进行比较。NF1与RA的合并主要影响成年女性,通常从NF1开始,在NF1症状发作至少6年后才出现RA。尽管NF1合并RA的临床和潜在发病机制的总结特征仅局限在这6例病例中,我们希望这将有助于临床医生增加对这种罕见并发症的了解,从而有助于指导临床用药。
A 66-year-old neurofibromatosis type 1 (NF1) patient with polyarticular pain for nine years, aggravated for two days, was transferred from the Emergency Intensive Care Unit (EICU) to our rheumatology department. She was diagnosed with NF1 nine years ago by a gene mutation detection and coronary heart disease (CHD) three months ago. The patient was diagnosed with rheumatoid arthritis (RA) this time. After 24 days of treatment with appropriate medication, the patient was discharged with relieved joint pain. However, about four months later, the patient died of circulatory failure caused by myocardial infarction. We analyzed the possible reasons for her outcome and made a review of the literature. There are few clinical
reports of NF1 complicated with RA. We found five cases reported in the literature up to date during our search and included them in our communication to compare with our
case. NF1 combined with RA mainly affects adult women and usually starts with NF1 and is followed by RA after at least six years of NF1 symptom onset. Although the summarized characteristics of clinical and potential pathogenesis of NF1 combined with RA were limited with these six cases, we hope that this will help clinicians to increase their understanding of this rare complication, thus helping to guide clinical medication.