Mixed connective tissue disease

混合性结缔组织病
  • 文章类型: Case Reports
    药物性免疫性血小板减少症是一种以血小板加速破坏为标志的不良反应。在癌症治疗中,血小板减少症还有许多其他原因,包括化疗药物引起的骨髓抑制,感染,和癌症的进展;药物性血小板减少容易被误诊或忽视。这里,我们介绍了一例有混合性结缔组织疾病病史的卵巢癌患者,该患者接受了手术,然后接受了紫杉醇治疗,顺铂,和贝伐单抗.患者在第六个周期后出现急性孤立性血小板减少症。血清抗血小板抗体测试显示针对糖蛋白IIb的抗体。在我们分析了这个病人的整个治疗过程之后,假定药物诱导的免疫性血小板减少症,贝伐单抗被推测为最可能的药物.血小板减少症最终使用重组人血小板生成素成功治疗,泼尼松,和重组人白细胞介素-11。本文总结了现有关于贝伐单抗诱导的免疫性血小板减少症的文献,并讨论了药物诱导的免疫性血小板减少症的相关机制和触发因素。本病例强调了贝伐单抗诱导免疫介导的血小板减少症的潜力,强调需要提高对自身免疫性疾病或自身免疫激活状态的警惕,这些疾病或自身免疫激活状态是癌症治疗中罕见药物诱导的免疫性血小板减少症的合理触发因素。
    Drug-induced immune thrombocytopenia is an adverse reaction marked by accelerated destruction of blood platelets. In cancer therapy, thrombocytopenia has many other causes including bone marrow suppression induced by chemotherapeutic agents, infection, and progression of cancer; drug-induced thrombocytopenia can easily be misdiagnosed or overlooked. Here, we present a case of an ovarian cancer patient with a history of mixed connective tissue disease who underwent surgery followed by treatment with paclitaxel, cisplatin, and bevacizumab. The patient developed acute isolated thrombocytopenia after the sixth cycle. Serum antiplatelet antibody testing revealed antibodies against glycoprotein IIb. After we analyzed the whole therapeutic process of this patient, drug-induced immune thrombocytopenia was assumed, and bevacizumab was conjectured as the most probable drug. Thrombocytopenia was ultimately successfully managed using recombinant human thrombopoietin, prednisone, and recombinant human interleukin-11. We provide a summary of existing literature on immune thrombocytopenia induced by bevacizumab and discuss related mechanisms and triggers for drug-induced immune thrombocytopenia. The present case underscores the potential of bevacizumab to induce immune-mediated thrombocytopenia, emphasizing the need for heightened vigilance towards autoimmune diseases or an autoimmune-activated state as plausible triggers for rare drug-induced immune thrombocytopenia in cancer therapy.
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  • 文章类型: Journal Article
    混合性结缔组织病(MCTD)的特点是系统性红斑狼疮的混合特征,系统性硬化症,和多发性肌炎/皮肌炎,在儿童中很少见。这里,我们报告了一例MCTD病例,一名10岁女孩出现关节痛,雷诺现象,和疲劳。抗U1-核糖核蛋白(RNP)抗体以及类风湿因子(RFs)IgG-RF和抗半乳糖缺陷型IgG的血液测试均呈阳性。肌源性酶和高丙种球蛋白血症的水平升高。巨噬细胞在骨髓中突出,有分散的吞噬巨噬细胞。根据患者的症状和实验室检查结果诊断为MCTD。甲基强的松龙冲击治疗联合口服他克莫司,导致症状的消退。脉冲治疗三个月后,关节痛恶化,给予甲氨蝶呤。关节痛得到改善,但没有解决。进行磁共振成像以研究髋部疼痛显示成熟的卵巢畸胎瘤,手术切除了.因为疼痛持续存在并干扰了她的日常生活,她接受了托珠单抗治疗以缓解关节疼痛,降低了疼痛程度。Tocilizumab是与儿童期发病的MCTD相关的幼年特发性关节炎样关节炎的额外治疗的候选药物。
    Mixed connective tissue disease (MCTD) is characterized by mixed features of systemic lupus erythematosus, systemic sclerosis, and polymyositis/dermatomyositis and is rare in children. Here, we report a case of MCTD in a 10-year-old girl who presented at our hospital with arthralgia, Raynaud\'s phenomenon, and fatigue. Blood tests were positive for anti-U1-ribonucleoprotein (RNP) antibodies and for rheumatoid factors (RFs) IgG-RF and anti-galactose-deficient IgG. Levels of myogenic enzymes and hypergammaglobulinemia were elevated. Macrophages were prominent in bone marrow, with scattered phagocytic macrophages. MCTD was diagnosed based on the patient\'s symptoms and laboratory findings. Methylprednisolone pulse therapy combined with oral tacrolimus was administered, which led to resolution of symptoms. Three months after pulse therapy, arthralgia worsened and methotrexate was administered. Arthralgia improved but did not resolve. Magnetic resonance imaging performed to investigate the hip pain revealed a mature ovarian teratoma, which was surgically removed. Because the pain persisted and interfered with her daily life, she was treated with tocilizumab for joint pain relief, which decreased the pain level. Tocilizumab is a candidate for additional treatment of juvenile idiopathic arthritis-like arthritis associated with childhood-onset MCTD.
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  • 文章类型: Case Reports
    重叠的自身免疫性疾病用于描述同一患者中多于一种自身免疫性疾病的共存。混合性结缔组织病(MCTD)和抗合成酶综合征(ASS)是表现为肺部受累的自身免疫性疾病,表现为持续性呼吸困难。同一患者中两种情况的共存极为罕见。我们在此报告一例44岁女性,在类风湿关节炎(抗环瓜氨酸肽(抗CCP)抗体)的背景下被诊断为具有ASS(抗Jo-1抗体)特征的MCTD,这表明用皮质类固醇和霉酚酸酯治疗后呼吸暂时改善。然而,霉酚酸酯完成后,患者的抗Jo-1抗体阴性,抗CCP抗体阳性.我们的案例强调需要识别具有复杂临床特征和表现的患者的重叠自身免疫状况,并立即应用全面的诊断方法和量身定制的治疗策略。早期诊断和积极治疗对于实现缓解和预防器官损伤至关重要。
    Overlapping autoimmune disorders are used to describe the coexistence of more than one autoimmune disease in the same patient. Mixed connective tissue disease (MCTD) and anti-synthetase syndrome (ASS) are autoimmune diseases that manifest with pulmonary involvement, presenting as persistent dyspnea. The coexistence of both conditions in the same patient is extremely rare. We herein report a case of a 44-year-old female who was diagnosed with MCTD with features of ASS (anti-Jo-1 antibody) in the setting of rheumatoid arthritis (anti-cyclic citrullinated peptide (anti-CCP) antibody), which shows temporary breathing improvement following treatment with corticosteroid and mycophenolate mofetil. However, after the completion of mycophenolate mofetil, she was found to be anti-Jo-1 antibody negative and anti-CCP antibody positive. Our case emphasizes the need to recognize overlapping autoimmune conditions in patients with complex clinical features and presentations with the immediate application of a comprehensive diagnostic approach and tailored treatment strategies. Early diagnosis and aggressive treatment are crucial for achieving remission and preventing organ damage.
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  • 文章类型: Case Reports
    一名50岁的女性患者出现关节痛,雷诺现象,鼻出血,毛细血管扩张被提出了一个诊断难题,即,是否接受混合性结缔组织病(MCTD)的诊断,她满足了所有的标准,或者测试另一种可能的疾病,即遗传性出血性毛细血管扩张症(HHT),即使仅存在一些临床特征,并且不满足所有诊断标准。以患者鼻出血的发作为重要线索,建议病人进行HHT基因检测,这是积极的。MCTD和HHT的治疗正在进行中,并计划对患者进行适当的监测。
    A 50-year-old female patient presenting with joint pains, Raynaud\'s phenomenon, epistaxis, and telangiectasias was posed with a diagnostic conundrum, i.e., whether to accept the diagnosis of mixed connective tissue disease (MCTD), for which she fulfilled all the criteria, or test for another probable disease, namely hereditary hemorrhagic telangiectasia (HHT), even though only some clinical features were present and all diagnostic criteria were not satisfied. Taking the patient\'s onset of epistaxis as an important clue, the patient was counseled for genetic testing for HHT, which was positive. Treatment for both MCTD and HHT is underway, and appropriate surveillance is planned for the patient.
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  • 文章类型: Case Reports
    混合性结缔组织病(MCTD)是一种全身性自身免疫性疾病,其特征与多种自身免疫性疾病重叠。一项研究发现,超过55%的MCTD患者出现神经精神症状,其中最常见的是无菌性脑膜炎样综合征。“我们提出了一个案例,一个17岁的青春期女孩表现出异常的言语和行为,幻听,和孤立的发烧后的妄想症。她因精神病症状接受了治疗,但后来出现了类似精神阻滞剂恶性综合征的症状。抗体筛查显示抗U1-核糖核蛋白抗体升高,可能诊断为MCTD。她终于对类固醇疗法有了反应。据我们所知,这是报道的首例最初表现为精神病的MCTD病例.自身免疫性疾病的诊断应保持在类似临床表现的差异中,包括结缔组织疾病和自身免疫性甲状腺疾病。
    UNASSIGNED: Mixed connective tissue disease (MCTD) is a systemic autoimmune disease with features overlapping multiple autoimmune disorders. One study found that over 55% of patients with MCTD experienced neuropsychiatric symptoms, the most common of which was an \"aseptic meningitis-like syndrome.\" We present a case of a 17-year-old adolescent girl presenting with abnormal speech and behavior, auditory hallucinations, and paranoid delusions after an isolated episode of fever. She was treated for her psychotic symptoms but later developed symptoms resembling neuroleptic malignant syndrome. An antibody screen revealed elevated anti-U1-ribonucleoprotein antibodies with a possible diagnosis of MCTD. She finally responded to steroid therapy. To our knowledge, this is the first reported case of MCTD initially presenting with psychosis. A diagnosis of autoimmune disorders should be kept in the differential of similar clinical presentations including connective tissue disorders and autoimmune thyroid conditions.
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  • 文章类型: Case Reports
    混合性结缔组织病(MCTD)的特征是高滴度的不同抗体:U1核糖核蛋白在类风湿性关节炎中具有可变的临床特征,系统性红斑狼疮,硬皮病,多发性肌炎,和皮肌炎.有限的病例报告揭示了MCTD和癌症之间的关联,比如淋巴瘤,肺癌,和其他人。
    一名22岁女性表现为腹部增大和下肢水肿,逐渐开始25天患者被诊断患有类风湿性关节炎。她用7.5mg/周MTX治疗6个月。体检显示:苍白,下肢水肿,有滑膜炎和手畸形.实验室检查显示贫血,肌酸磷酸激酶ESR水平升高,抗核抗体阳性,反dsDNA,和抗核核糖核蛋白。尿蛋白排泄量为1625mg/24h。胸片显示双侧胸腔积液。超声心动图显示心包积液胸腹和盆腔断层扫描显示直径为5×6cm的异质肿块,以右侧卵巢为代价。肿块是通过手术切除的,做了活检,与卵巢高级别浆液性腺癌相容。使用solumedrol1g/IV/3天的疗程,然后继续口服60毫克/天的predlone。后来出院时,她每天服用25毫克predlone,和甲氨蝶呤10毫克。
    我们的病例显示患者没有发生卵巢癌的危险因素。相反,我们的病人很年轻,非吸烟者,在RA诊断之前没有任何治疗,最后,她有3个足月怀孕的孩子,和健康。此病例凸显了在MCTD患者中保持高度怀疑恶性肿瘤的重要性。然而,在患有包括MCTD在内的自身免疫性疾病的女性中,仍有必要进一步研究免疫系统在卵巢癌发展中的作用.
    UNASSIGNED: Mixed connective tissue disease (MCTD) is characterized by high titres of distinct antibodies: U1 ribonucleoprotein with variable clinical features seen in rheumatoid arthritis, systemic lupus erythematosus, scleroderma, polymyositis, and dermatomyositis. Limited case reports revealed the association between MCTD and cancer, like lymphoma, lung cancers, and others.
    UNASSIGNED: A 22-year-old female presented with enlargement of the abdomen and oedema of the lower extremities, gradually started 25 days The patient had been diagnosed to have rheumatoid arthritis. She was treated with 7.5 mg/week MTX for 6 months. Physical examination revealed: pallor, lower limb oedema, with synovitis and deformities of hands. The laboratory tests showed anaemia, elevated levels of creatine phosphokinase ESR, positivity of antinuclear antibody, anti-ds DNA, and antinuclear ribonucleoprotein. Urinary protein excretion was 1625 mg/24 h. Chest X-ray showed bilateral pleural effusion. Echocardiography revealed pericardial effusion Thoracic-abdominal and pelvic tomography showed a heterogeneous mass with a diameter of 5 × 6 cm at the expense of the right ovary. The mass was removed surgically, and a biopsy was taken, and was compatible with ovarian high-grade serous adenocarcinoma. A course of solumedrol 1 g/IV/3 days was applied, and then continue with 60 mg/day oral predlone. Later on discharge, she was taken 25 mg/day predlone, and methotrexate 10 mg.
    UNASSIGNED: Our case showed that the patient had no risk factors for developing ovary cancer. On the contrary, our patient was a young, non-smoker, without any previous treatment before the RA diagnosis was taken, and finally, she had 3 children with full-term pregnancy, and well health. This case highlights the importance of maintaining a high index of suspicion for malignancy in MCTD patients. However, further investigation on the role of the immune system in the development of ovarian cancer in women with autoimmune diseases including MCTD remains necessary.
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  • 文章类型: Case Reports
    背景:西方世界的“过敏流行病”,导致了大量过敏性鼻炎的急诊科报告,过敏性结膜炎,特应性湿疹,和哮喘。应仔细考虑筛查出现在ED的患者中的混合性结缔组织病(MCTD)的典型体征和症状,这似乎是一个简单的过敏过程。MCTD是一种罕见的全身性风湿性疾病,其特征是高水平的抗U1RNP抗体和各种临床体征和症状。对MCTD的病理生理学了解甚少。在最近的文献中已经报道了过敏原介导的过程与MCTD之间的关联。我们的病例报告涉及一名40岁的非洲裔美国女性,最初的门诊表现提示特应性疾病,在接受过敏原免疫疗法时,症状逐渐恶化。患者因双侧腿部痉挛而被送往急诊科。发现患者的CPK为7000,对液体无反应。过敏和风湿病服务对患者进行了评估。患者最终被诊断为MCTD-肌炎重叠综合征,并开始服用类固醇和IVIG,症状有所改善。虽然MCTD并不容易在ED中做出诊断,疾病的早期识别和治疗对于预防长期并发症至关重要。
    The \"allergy epidemic\" of the Western World, has led to an overwhelming number of emergency department presentations with allergic rhinitis, allergic conjunctivitis, atopic eczema, and asthma. Careful consideration should be given to screening for the typical signs and symptoms of Mixed connective tissue disease (MCTD) in patients presenting to the ED with what appears to be a simple allergic process. MCTD is a rare systemic rheumatic disease characterized by high levels of anti-U1RNP antibodies and various clinical signs and symptoms. The pathophysiology of MCTD is poorly understood. An association between allergen-mediated processes and MCTD has been reported in recent literature. Our case report involves a 40 year old African American female with initial outpatient presentation suggestive of atopic disease, with progressive worsening of symptoms while receiving allergen immunotherapy. The patient presented to the emergency department with bilateral leg cramping. The patient was found to have a CPK of 7000 unresponsive to fluids. The patient was evaluated by the Allergy and Rheumatology services. The patient was ultimately diagnosed with MCTD-Myositis Overlap Syndrome and started on steroids and IVIG with improvement in symptoms. While MCTD is not a diagnosis readily made in the ED, early identification and treatment of the disease is critical for prevention of long term complications.
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  • 文章类型: Case Reports
    冷冻纤维蛋白原是一种异常,由纤维蛋白原组合组成的冷不溶性蛋白质,纤维蛋白,和纤连蛋白.冷冻纤维蛋白原血症可以是各种病症必需的(例如原发性)或继发的。虽然在无症状的健康个体中可以看到低水平的冷冻纤维蛋白原,但没有典型的冷冻纤维蛋白原血症的临床特征的证据。与临床特征相关的冷冻纤维蛋白原血症被认为非常罕见。冷冻纤维蛋白原血症的临床特征包括皮肤表现,包括雷诺现象和网状livedo,更严重的器官威胁表现,如组织缺血和坏疽。
    我们报告一例48岁男性,表现为蓝色手指,四肢远端有明显的紫癜。实验室检查的抗核抗体呈阳性,反双链DNA,抗核糖核蛋白,和类风湿因子,而抗中性粒细胞胞浆抗体和冷球蛋白均为阴性。对高凝状态和感染病因的检测没有揭示。稍后,血管造影计算机断层扫描显示多个肺栓塞和左五指血流中断。由于上述检查不能通过血栓栓塞原因解释血栓的存在,开始寻找抗磷脂综合征以外的原位病因,主要集中在冷冻纤维蛋白原血症上。将使用预热的含有抗凝血剂的管收集的血液样品送到熟悉进行测试的中心实验室。两周后,冷冻纤维蛋白原的阳性结果证实了冷冻纤维蛋白原血症的诊断。由于存在与混合性结缔组织疾病相容的多种体征,他被诊断为混合性结缔组织病继发的冷冻纤维蛋白原血症,用泼尼松治疗,低分子量肝素,前列环素和羟氯喹的初始结果良好。
    冷冻纤维蛋白原血症是一种罕见且未被诊断的疾病。临床医生应该意识到这种冷冻病,尤其是在雷诺现象和其他原因无法解释的缺血性溃疡的情况下。在诊断过程中必须采取预防措施,应该尽快给予治疗。
    UNASSIGNED: Cryofibrinogen is an abnormal, cold-insoluble protein composed of a combination of fibrinogen, fibrin, and fibronectin. Cryofibrinogenemia can be essential (e.g. primary) or secondary to various conditions. While low levels of cryofibrinogen can be seen in asymptomatic healthy individuals without evidence of clinical features typical of cryofibrinogenemia, cryofibrinogenemia associated with clinical features is considered very rare. The clinical features of cryofibrinogenemia ranges from skin manifestations, including Raynaud\'s phenomenon and livedo reticularis, to more severe organ-threatening manifestations such as tissue ischemia and gangrene.
    UNASSIGNED: We report a case of a 48-year-old male who presented with blue finger and palpable purpura on his distal extremities. Laboratory workup was positive for anti-nuclear antibodies, anti-double-stranded DNA, anti-ribonucleoprotein, and rheumatoid factor, while antineutrophil cytoplasmic antibodies and cryoglobulins were negative. Testing for hypercoagulable states and infectious etiologies was unrevealing. Later, angiographic computed tomography showed multiple pulmonary embolisms and disruption of blood flow to the left fifth digit. As the aforementioned workup could not explain the presence of the thrombus by a thromboembolic cause, a search for an in situ cause other than antiphospholipid syndrome was initiated and concentrated mainly on cryofibrinogenemia. Blood samples collected using prewarmed anticoagulant containing tubes were sent to central lab familiar with performing the test. Two weeks later, a positive result for the presence of cryofibrinogen confirmed the diagnosis of cryofibrinogenemia. Due to the presence of multiple signs compatible with mixed connective tissue disease, he was diagnosed with cryofibrinogenemia secondary to mixed connective tissue disease, and treatment with prednisone, low-molecular-weight heparin, prostacyclin and hydroxychloroquine was initiaed with favorable outcome.
    UNASSIGNED: Cryofibrinogenemia is a rare and underdiagnosed condition. Clinicians should be aware of this cryopathy especially in the cases of Raynaud\'s phenomenon and ischemic ulcers not explained by other causes. Precautions must be taken during the diagnostic process, and therapy should be given as soon as possible.
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  • 文章类型: Case Reports
    我们报道了一个62岁的男子出现呼吸急促的病例,咳嗽,双侧下肢肿胀,和黑色变色的多个指尖在过去2个月。发现存在抗核糖核蛋白抗体,基于钆的心脏MRI显示非血管心内膜下增强,左心室壁弥漫性对称增厚。因此诊断为混合性结缔组织病伴有继发性心脏淀粉样变性。患者通过静脉注射环磷酰胺成功治疗,皮质类固醇,其他支持措施。虽然极为罕见,该病例表明,在治疗MCTD患者时,应考虑继发性心脏淀粉样变性.
    We report the case of a 62-year-old man who presented with shortness of breath, cough, bilateral lower limbs\' swelling, and blackish discoloration of multiple fingertips over the past 2 months. Anti-Ribonucleoprotein antibodies were found to be present, and gadolinium-based cardiac MRI showed non-vascular subendocardial enhancement with diffuse symmetrical thickening of the left ventricular wall. A diagnosis of Mixed connective tissue disease with secondary cardiac amyloidosis was thus made, and the patient was successfully managed with intravenous cyclophosphamide, corticosteroids, and other supportive measures. Although extremely rare, this case shows that secondary cardiac amyloidosis should be considered while managing patients with MCTD.
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  • 文章类型: Case Reports
    背景:Telengiectasias被定义为真皮浅层小毛细血管的持续扩张病例:一名26岁女性出现红色病变,鼻出血,关节疼痛,手的颜色变化,和呼吸困难。关于临床检查和调查,最终诊断为混合性结缔组织病(MCTD),患有间质性肺病(ILD),毛细血管扩张,发生了鼻出血。毛细血管扩张和鼻出血是MCTD的罕见表现。
    BACKGROUND: Telengiectasias are defined as persistent dilatation of small capillaries in the superficial dermis Case : A 26-year-old woman presented with red lesions, epistaxis, joint pains, color changes of the hands, and breathlessness. On clinical examination and investigations, a final diagnosis of mixed connective tissue disease (MCTD), with interstitial lung disease (ILD), with telangiectasias, and epistaxis was made. Telangiectasias and epistaxis are rare presentations of MCTD.
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