internal medicine and rheumatology

内科和风湿病
  • 文章类型: Case Reports
    Behcet病(BD)是一种罕见的疾病,以口腔和生殖器区域复发性溃疡为特征的长期炎症状况,葡萄膜炎,以及各种系统性问题。这种疾病特别罕见但严重的并发症之一是肺动脉动脉瘤(PAA)的形成。虽然这些动脉瘤并不常见,它们会导致危险的肺出血(PHs),通常是致命的,需要及时诊断和干预。我们介绍了一个在最近诊断为BD的18岁患者中下段PAA的病例,出现危及生命的PH,并通过微线圈栓塞动脉瘤和免疫抑制(IS)药物成功治疗,实现稳定缓解无并发症。
    Behcet\'s disease (BD) is an uncommon, long-term inflammatory condition characterized by recurring ulcers in the mouth and genital area, uveitis, and various systemic issues. One of the particularly rare but severe complications of this disease is the formation of pulmonary artery aneurysms (PAAs). Although these aneurysms are uncommon, they can lead to dangerous pulmonary hemorrhages (PHs), which are often fatal, requiring prompt diagnosis and intervention. We present a case of lower segment PAA in an 18-year-old patient with recently diagnosed BD, presenting with life-threatening PH and managed successfully with microcoil embolization of the aneurysm and immunosuppressive (IS) medications, achieving stable remission without complications.
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  • 文章类型: Case Reports
    系统性红斑狼疮(SLE)是一种自身免疫性疾病,其特征是免疫系统错误地攻击健康的组织和器官。SLE有各种各样的临床表现。SLE的体征和症状是众所周知的,尽管可能会出现罕见的表现,需要早期临床关注。巨噬细胞激活综合征(MAS)是一种严重且危及生命的疾病,其中免疫系统变得过度活跃,导致免疫细胞的过度刺激和增殖。MAS可以作为原发性免疫疾病发生,这不是很常见。它也可以在多种病理条件下发生,其中包括感染,恶性肿瘤,自身免疫,和风湿病.在极少数情况下,SLE可以呈现MAS的重叠特征,进一步复杂的临床表现,可能需要专门的管理。及早认识和干预这种重叠对改善结果至关重要,因为延迟诊断和治疗会导致显著的发病率和死亡率。这里,我们介绍了一个年轻的成年女性,她被诊断为SLE,最初以发烧的形式出现MAS,脾肿大,血细胞减少,和吞噬作用。
    Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the immune system erroneously attacking healthy tissues and organs. SLE has a wide variety of clinical presentations. The signs and symptoms of SLE are very well-known, though rare presentations could occur that require early clinical attention. Macrophage activation syndrome (MAS) is a severe and life-threatening condition in which the immune system becomes overactive, leading to the excessive stimulation and proliferation of immune cells. MAS can occur as a primary immune disorder, which is not very common. It can also happen secondary to a wide variety of pathological conditions, which include infections, malignancies, autoimmune, and rheumatologic disorders. In rare cases, SLE can present with overlapping features of MAS, further complicating the clinical picture, and may require specialized management. Early recognition and intervention of this overlap are essential for improving outcomes, as delayed diagnosis and treatment can lead to significant morbidity and mortality. Here, we present a case of a young adult female who was diagnosed with SLE with the initial presentation of MAS in the form of fever, splenomegaly, cytopenia, and hemophagocytosis.
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  • 文章类型: Case Reports
    后巩膜炎是一种罕见的炎症性眼部疾病,影响巩膜的后段,在女性中更为普遍。其临床表现,通常是非特异性的,包括眼痛,头痛,和视力丧失。由于缺乏对视力构成潜在威胁的特定症状,误诊很常见。病因通常与风湿病有关,如类风湿性关节炎(RA),系统性红斑狼疮(SLE),和抗中性粒细胞胞浆抗体(ANCA)相关血管炎。后巩膜炎提出了诊断挑战,模仿许多其他眼部疾病,因此有必要进行全面的临床眼科检查。实验室研究,包括炎症标志物和风湿性疾病标志物,可以识别潜在的全身性疾病。成像,包括B超和磁共振成像(MRI),有助于准确诊断。治疗包括非甾体抗炎药(NSAID),以及用于轻度疾病的局部皮质类固醇和用于严重疾病的全身性皮质类固醇。对于难治性病例,生物治疗变得越来越重要。涉及眼科和风湿病的多学科方法对于这种潜在的视力威胁疾病的管理至关重要。该病例报告重点介绍了一名46岁的女性,有RA相关的后巩膜炎病史。
    Posterior scleritis is a rare inflammatory eye condition affecting the posterior segments of the sclera and is more prevalent in females. Its clinical presentation, often nonspecific, includes ocular pain, headache, and vision loss. Misdiagnosis is common due to a lack of specific symptoms posing a potential threat to vision. The etiology is often tied to rheumatic diseases, such as rheumatoid arthritis (RA), systemic erythematous lupus (SLE), and anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis. Posterior scleritis poses diagnostic challenges, mimicking many other ocular conditions, hence necessitating a thorough clinical eye exam. Laboratory studies, including inflammatory markers and markers of rheumatic diseases, may identify underlying systemic diseases. Imaging, including B-scan ultrasound and magnetic resonance imaging (MRI), aids in accurate diagnosis. Treatment involves non-steroidal anti-inflammatory drugs (NSAID), as well as topical corticosteroids for mild disease and systemic corticosteroids for severe disease. Biologic therapy has become increasingly significant for refractory cases. A multidisciplinary approach involving ophthalmology and rheumatology is crucial in the management of this potential sight-threatening disease. This case report highlights a 46-year-old woman with a history of RA-associated posterior scleritis.
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  • 文章类型: Case Reports
    急性视力丧失是与广泛的鉴别诊断相关的常见临床表现。包括脱髓鞘疾病,肿瘤过程,自身免疫性疾病,和传染性条件。导致急性视力丧失的一种罕见但值得注意的感染性病因是神经性莱姆病(莱姆病)引起的视神经炎。莱姆病,由螺旋体伯氏螺旋体引起的媒介传播疾病,有可能影响多个生理系统,并在三个不同阶段展开。急性视力丧失的另一个重要原因是巨细胞动脉炎,通常影响大中型血管的自身免疫性血管炎,包括颞动脉和眼动脉.这种相对常见的情况可能表现为症状,比如颌骨跛行,头痛,和视觉障碍。准确识别急性视力丧失的根本原因对医生来说至关重要,因为它有助于避免不良并发症。一名80岁的女性突然出现左眼模糊的视力出现在急诊室,右侧的弱点,构音障碍,下巴疼痛,头痛,左面部下垂。在与风湿病和眼科专家协商后,巨细胞动脉炎是观察到的视力丧失的鉴别诊断的主要考虑因素。随后,进行了颞动脉活检,明确确认巨细胞动脉炎的诊断。考虑到病人居住在莱姆病流行地区,订购了莱姆免疫球蛋白G(IgG)滴度。结果呈阳性,提示存在莱姆病.
    Acute vision loss is a prevalent clinical manifestation associated with a broad spectrum of differential diagnoses, encompassing demyelinating diseases, neoplastic processes, autoimmune disorders, and infectious conditions. A rare but noteworthy infectious etiology contributing to acute vision loss is neurological Lyme disease (Lyme neuroborreliosis)-induced optic neuritis. Lyme disease, a vector-borne illness caused by the spirochete Borrelia burgdorferi, has the potential to affect multiple physiological systems and unfolds in three distinct stages. Another significant contributor to acute vision loss is giant cell arteritis, an autoimmune vasculitis that commonly affects large- and medium-sized vessels, including the temporal and ophthalmic arteries. This relatively common condition may manifest with symptoms, such as jaw claudication, headaches, and visual disturbances. The precise identification of the underlying cause of acute visual loss is of utmost importance for physicians, as it is instrumental in averting undesirable complications. An 80-year-old female presents to the emergency room with a sudden onset of blurry vision of the left eye, right-sided weakness, dysarthria, jaw pain, headache, and left facial droop. Following consultations with rheumatology and ophthalmology specialists, giant cell arteritis emerged as a primary consideration in the differential diagnosis for the observed vision loss. Subsequently, a temporal artery biopsy was conducted, definitively confirming the diagnosis of giant cell arteritis. Considering the patient\'s residence in an area endemic to Lyme disease, a Lyme immunoglobulin G (IgG) titer was ordered. The results returned positive, suggesting the presence of Lyme neuroborreliosis.
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  • 文章类型: Journal Article
    背景技术免疫系统,由各种分子和细胞组成,保护人类免受癌症和病原体的侵害。违反宽容,称为自身免疫性疾病(AD),是这些疾病的根源。系统性红斑狼疮(SLE)是一种以慢性炎症为特征的自身免疫性疾病,导致各种器官系统的组织损伤。这种疾病受荷尔蒙的影响,环境,和遗传因素。病理生理学尚不清楚,20%到30%的患者患有持续性疾病。SLE对年轻女性的影响大于男性,治疗集中于器官表现。尽管进步和更好的诊断,SLE继续显著增加发病率和早期死亡率。目的本研究旨在评估吉达地区普通人群对SLE的认识。沙特阿拉伯。方法使用GoogleForms对18岁及以上的吉达居民进行在线横断面调查。该调查从2023年8月到2023年10月开放给回复。结果该研究包括479名参与者,19(25%)男性和57(75%)女性诊断为SLE。这些人中大多数是家庭主妇和失业者。大多数人已婚(46,60.5%),只有25人(32.9%)是单身。在健康的参与者中,男性173人(42.9%),女性230人(57.1%),大多数是家庭主妇和政府雇员(95%,23.6%)。单打占124(30.8%),已婚人士占253人(62.8%)。在健康人群中,254(63%)缺乏关于SLE治疗的知识,而40例(52.6%)SLE患者认为联合化疗,疟疾药物,类固醇是最好的治疗方法.研究发现,393(82%)的样本听说过SLE,和250(52%)认为这不是一种传染性疾病。超过30人没有意识到SLE。大多数受访者认为他们需要对SLE有更多的认识和健康促进,410人(85.77%)表示他们需要更多的晋升。大多数人认为SLE在某种程度上是危险的。结论本研究揭示了吉达普通社区对SLE的认识的必要性和必要性。我们提倡开展疾病意识计划和活动,以增加吉达市对SLE的一般社区知识和认识。
    Background The immune system, composed of various molecules and cells, protects humans from cancer and pathogens. A breach of tolerance, known as autoimmune disease (AD), is the root of these diseases. Systemic lupus erythematosus (SLE) is an autoimmune condition characterized by chronic inflammation, causing tissue damage in various organ systems. The disease is influenced by hormonal, environmental, and genetic factors. The pathophysiology is unclear, and 20% to 30% of patients have a persistent illness. SLE affects young females more than males, and treatments focus on organ manifestations. Despite advancements and better diagnoses, SLE continues to contribute significantly to morbidity and early mortality. Objective This study aims to assess knowledge of SLE among the general population of Jeddah, Saudi Arabia. Methodology An online cross-sectional survey using Google Forms was conducted for Jeddah residents aged 18 and above. The survey was open for responses from August 2023 to October 2023. Results The study included 479 participants, with 19 (25%) males and 57 (75%) females diagnosed with SLE. The majority of these individuals were housewives and unemployed. The majority were married (46, 60.5%), with only 25 (32.9%) being single. Among healthy participants, there were 173 (42.9%) males and 230 (57.1%) females, with a majority being housewives and government employees (95, 23.6%). Singles accounted for 124 (30.8%), while married individuals constituted 253 (62.8%). Among the healthy population respondents, 254 (63%) lacked knowledge about SLE treatment, while 40 (52.6%) SLE patients believed that a combination of chemotherapy, malaria medication, and steroids was the best treatment. The study found that 393 (82%) of the sample had heard about SLE, and 250 (52%) believed it was not a contagious disease. More than 30 were unaware of SLE. The majority of the respondents felt they needed more awareness and health promotion about SLE, with 410 (85.77%) stating they needed more promotion. The majority of the people believed SLE was dangerous to some extent. Conclusions This study revealed the need and necessity of awareness of SLE among the general community of Jeddah. We advocate undertaking disease awareness programs and activities to increase general community knowledge and awareness of SLE in the city of Jeddah.
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  • 文章类型: Case Reports
    佩吉特骨病(PDB)是一种骨骼重塑的局灶性疾病,导致骨结构和性质的改变,在40岁以下的人群中罕见的报道,特别是在东南亚地区。在文学中,PDB在欧洲地区得到了很好的报道,与亚洲相反,亚洲的PDM患病率记录有限,尤其是在年轻人口中。这里,我们报告了一名21岁的男性患者,患有晚期疾病并有听觉障碍的主诉,骨痛,由于言语间椎间盘受压而引起的神经系统症状在两个月内逐渐发展,血清碱性磷酸酶水平升高601IU/L给患者施用唑来膦酸,这给他的健康带来了显着改善。我们的目标是表示PDB在我们地区的高级介绍,以提高医生对这种情况的认识,并帮助迅速诊断和预防最可怕的疾病并发症。比如骨肉瘤,继发性骨关节炎,和骨折。
    Paget\'s disease of bone (PDB) is a focal disorder of skeletal remodeling leading to alteration of bony structures and properties, uncommonly reported in people under the age of 40 years, particularly in the Southeast Asia region. In the literature, PDB has been well reported in regions of Europe, in contrast to Asia where there has been limited records of prevalence of PDM especially in the younger age population. Here, we report a 21-year-old male patient presenting with an advanced disease with complaints of auditory impairment, bone pain, and neurological signs due to compression of the interverbal disc developed progressively over two months, having an elevated serum alkaline phosphatase level of 601 IU/L. The patient was administered zoledronic acid that brought significant improvement in his health. We aim to signify the advanced presentation of PDB in our region to create awareness about the condition among physicians and aid in the prompt diagnosis and prevention of the most dreaded complications of the disease, such as osteosarcoma, secondary osteoarthritis, and fractures.
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  • 文章类型: Case Reports
    唑来膦酸是双膦酸盐,通常用于治疗涉及骨丢失的各种病症。虽然它通常具有良好的耐受性,严重炎症反应的发生是罕见的。我们介绍了一个82岁的女性,她出现了严重的免疫反应,包括上肢和下肢的虚弱和压痛,单剂量唑来膦酸输注后用于治疗骨质疏松症。症状出现在输液后一周并持续,随着时间的推移逐渐恶化,导致功能障碍和步行需要步行。实验室研究显示红细胞沉降率升高,而其他自身免疫标志物在正常范围内。鉴别诊断包括唑来膦酸不良反应或风湿性多肌痛。患者使用泼尼松锥度显着改善,提示免疫介导的反应。此案例强调了将严重的免疫反应视为唑来膦酸的潜在副作用的重要性,并强调需要进一步研究以更好地了解潜在机制并优化患者管理。
    Zoledronic acid is a bisphosphonate commonly used to treat various conditions involving bone loss. While it is generally well-tolerated, the occurrence of severe inflammatory reactions is rare. We present the case of an 82-year-old female who developed a severe immune reaction, including weakness and tenderness in her upper and lower extremities, following a single dose of zoledronic acid infusion for the treatment of osteoporosis. The onset of symptoms occurred one week after the infusion and persisted, progressively worsening over time, leading to functional impairment and the need for a walker for ambulation. Laboratory studies revealed an elevated erythrocyte sedimentation rate while other autoimmune markers were within normal limits. Differential diagnosis included an adverse reaction to zoledronic acid or underlying polymyalgia rheumatica. The patient showed significant improvement with a prednisone taper, suggesting an immune-mediated response. This case highlights the importance of considering severe immune reactions as a potential side effect of zoledronic acid and emphasizes the need for further research to better understand the underlying mechanisms and optimize patient management.
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  • 文章类型: Case Reports
    痛风是一种常见的炎症性关节炎,由各种关节内和周围的尿酸结晶增加引起,主要是成年人的大脚趾。它是由于尿酸或尿酸水平的增加而发生的,这是因为身体的生产增加或排泄减少。尿酸是嘌呤代谢的最终产物,许多高尿酸血症患者可能仍然无症状。我们介绍了一例46岁的男性,该男性在过去三天内出现急性咽炎和左脚趾疼痛的临床特征。在进一步的提问中,他补充说,在过去的几个月中,他的左木材区域和脚趾左侧都有疼痛。他还有一个已知的2型糖尿病病例,高血压,和胃炎,他一直在服用噻嗪类利尿剂,血管紧张素转换酶(ACE)抑制剂,二甲双胍,西格列汀,阿司匹林,和阿托伐他汀.实验室检查显示尿酸升高以及炎症标志物升高。因此,他被转诊为关节穿刺术专家以确认诊断,噻嗪类利尿剂被钙通道阻滞剂替代。根据腹部超声检查,他还患有非酒精性脂肪性肝炎(NASH)。关于后续访问,他的症状已经缓解,尿酸水平恢复正常.
    Gout is a common inflammatory arthritis caused by increased uric acid crystals in and around various joints, mainly the big toe in adults. It happens due to the increase of urate or uric acid levels either because of increased production or decreased excretion from the body. Uric acid is the final product of purine metabolism, and many patients with hyperuricemia may remain asymptomatic. We present a case of a 46-year-old male who presented to the ambulatory care unit with the clinical features of acute pharyngitis and left toe pain for the past three days. On further questioning, he added that he had pain in the left lumber region and left side of the toe for the past few months. He also had a known case of type 2 diabetes mellitus, hypertension, and gastritis, for which he has been taking the thiazide diuretic, angiotensin-converting enzyme (ACE) inhibitors, metformin, sitagliptin, aspirin, and atorvastatin. Laboratory tests showed elevated uric acid along with raised inflammatory markers. As a result, he was referred to the specialist for arthrocentesis in order to confirm the diagnosis, and the thiazide diuretic was replaced with calcium channel blockers. He also suffered from nonalcoholic steatohepatitis (NASH) based on his ultrasound abdomen. On the follow-up visit, his symptoms had resolved, and his uric acid level had normalized.
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  • 文章类型: Case Reports
    血管性水肿(AE)是一种免疫介导的组织肿胀,如果损害气道,可能会危及生命。这使得迅速诊断和治疗该病症非常重要。它可以是遗传性的或与感染有关,恶性肿瘤,和自身免疫性疾病。文献中已经报道了系统性红斑狼疮(SLE)患者发生获得性血管性水肿的病例,这引起了对这两种情况之间可能存在关联的怀疑。我们描述了一个没有已知医疗问题的病人,表现为急性发作的第一次血管性水肿伴气道受损。由于很少意识到我们感兴趣的条件可能存在关联,在诊断方面存在不可避免的延迟,患者最终被诊断为SLE和相关的后天性血管性水肿作为其首次表现.该病例报告强调了在孤立的初发AE患者中保持高度怀疑SLE的重要性,并讨论了疾病过程中涉及的机制,以阐明可用的治疗方式。
    Angioedema (AE) is an immune-mediated tissue swelling that can be life-threatening if it compromises the airway. This makes prompt diagnosis and management of the condition excruciatingly important. It can be hereditary or associated with infections, malignancies, and autoimmune diseases. There have been reported cases in the literature where Systemic lupus erythematosus (SLE) patients developed acquired angioedema raising suspicion of a possible association between the two conditions. We describe a case of a patient with no known medical issues, presenting with acute onset of her first episode of angioedema with airway compromise. Because of the rarity of awareness of the possible association of our conditions of interest, there was an inevitable delay in diagnosis and the patient was eventually diagnosed to have SLE and associated acquired angioedema as its first presentation.  This case report highlights the importance of maintaining high suspicion for SLE in patients with an isolated first episode of AE and discusses mechanisms involved in the disease process to shed light on available treatment modalities.
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  • 文章类型: Case Reports
    在这份报告中,我们描述了一例疑似COVID-19免疫诱导的可能的灾难性抗磷脂综合征的女性病例.患者是一名35岁的女性,具有抗磷脂综合征的既往病史,不是抗凝,有5天腹痛和腹胀病史的人,恶心,呕吐,呼吸急促.她在症状出现前一天接受了第一剂辉瑞COVID-19疫苗。在医院外面做了大量检查,她被发现患有严重的二尖瓣和三尖瓣反流加剧的急性心力衰竭。她被转移到我们医院接受治疗升级。心电图显示先前有下壁和间隔心肌梗塞的证据。经食管超声心动图(TEE)显示射血分数降低,严重的二尖瓣和三尖瓣反流,还有左心室血栓.心脏MRI显示心内膜下钆晚期增强,提示缺血。然而,冠状血管的CTA没有显示阻塞的迹象。因此,她的急性心力衰竭被认为是由于抗磷脂综合征继发的小血管血栓形成。入院期间,她有几次类似癫痫发作的缺席发作。CT头颅显示深部白质的多个低密度,脑MRI显示多个高强度T2FLAIR信号灶,并限制扩散和增强累及大脑半球,与继发于抗磷脂综合征或左心室血栓栓塞的亚急性卒中一致。她因疑似灾难性抗磷脂综合征而接受肝素治疗,并因合并系统性红斑狼疮(SLE)而接受大剂量皮质类固醇治疗。她出院了,情况稳定。
    In this report, we describe the case of a woman with suspected COVID-19 immunization-induced probable catastrophic antiphospholipid syndrome. The patient is a 35-year-old female with a past medical history significant for antiphospholipid syndrome, not on anticoagulation, who presented with a 5-day history of abdominal pain and distention, nausea, vomiting, and shortness of breath. She had received her first dose of the Pfizer COVID-19 vaccine one day prior to the onset of symptoms. After extensive workup at an outside hospital, she was found to be in acute heart failure exacerbated by severe mitral and tricuspid regurgitation. She was transferred to our hospital for escalation of care. EKG showed evidence of prior inferior and septal myocardial infarction. Transesophageal echocardiogram (TEE) showed reduced ejection fraction, severe mitral and tricuspid regurgitation, and a left ventricular thrombus. Cardiac MRI showed subendocardial late gadolinium enhancement indicative of ischemia. However, CTA of the coronary vessels showed no signs of obstruction. Therefore, her acute heart failure was thought to be due to small vessel thrombosis secondary to antiphospholipid syndrome. During admission, she had several absence seizure-like episodes. CT head showed several hypodensities of the deep white matter and brain MRI demonstrated multiple hyperintense T2 FLAIR signal foci with restriction diffusion and enhancement involving the cerebral hemisphere, consistent with subacute strokes attributed to being secondary to antiphospholipid syndrome or embolic from the left ventricular thrombus. She was treated with heparin for suspected catastrophic antiphospholipid syndrome and high-dose corticosteroid therapy for concomitant Systemic Lupus Erythematosus (SLE). She was discharged in a stable condition.
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