Case Reports in Rheumatology最新文献

Objectives: Rare metabolic bone diseases can present with symptoms mimicking more common rheumatological conditions including spondyloarthritis, osteoarthritis, and fibromyalgia. Increasing awareness of these rare diseases within the rheumatology community is vital to ensure that affected patients are diagnosed and appropriately treated. The literature includes several reports of tumour-induced osteomalacia initially diagnosed as rheumatic disease, but other rare diseases such as X-linked hypophosphatemia (XLH) and hypophosphatasia (HPP) also deserve attention. Here, we describe two cases of adult patients incorrectly diagnosed with ankylosing spondylitis and osteoarthritis who, upon referral to a metabolic bone disease specialist, were subsequently diagnosed with XLH and HPP, respectively, profoundly altering their management.

Methods: The cases were collected from Brigham and Women's Hospital, Boston, MA, USA, and Vanderbilt University Medical Center, Nashville, TN, USA.

Results: Details of the patients' respective medical and family histories are presented, and the clinical and biochemical investigations undertaken to reach the correct diagnoses are described.

Conclusion: Rheumatologists should be encouraged to think beyond common rheumatological diseases when faced with symptoms such as bone pain, muscle pain, and stiffness, especially when accompanied by manifestations including atraumatic fractures, poor dentition, and hearing loss. In cases where one of these rare diseases is suspected, referral to a metabolic bone disease specialist for confirmation of diagnosis is encouraged as effective treatment options have recently become available.

Small cell neuroendocrine carcinoma is rare among urinary bladder cancer types, and to date, there are no case reports of concurrent antitranscriptional intermediary factor 1-γantibody-positive dermatomyositis. We describe the case of a 69-year-old Japanese man who presented with elevated creatine kinase levels and haematuria on medical examination. Approximately one month later, he developed dysphagia. Laryngoscopy confirmed laryngeal dysfunction. He also presented with muscle weakness and a skin rash. Magnetic resonance imaging of the upper extremities suggested bilateral brachial muscle myositis. He was diagnosed as having dermatomyositis and was later found to be positive for antitranscriptional intermediary factor 1-γ antibody. Computed tomography revealed an intravesical space-occupying lesion and right iliac lymphadenopathy, suggesting urinary bladder cancer. The patient was admitted to our hospital for treatment. Urinary bladder biopsy confirmed small cell neuroendocrine carcinoma because tumour cells were positive for synaptophysin, CD56, and chromogranin A. Thus, the patient was diagnosed as having an antitranscriptional intermediary factor 1-γantibody-positive dermatomyositis concomitant with urinary bladder small cell neuroendocrine carcinoma. The patient was treated with glucocorticoid and intravenous immune globulin therapy for dermatomyositis. Radiotherapy was selected for the carcinoma. Although muscle weakness and skin symptoms improved with treatment, dysphagia persisted. Furthermore, expression of the transcriptional intermediary factor 1-γ protein in tumour cells was also confirmed by immunohistochemistry, but the significance is unknown. It should be noted that antitranscriptional intermediary factor 1-γantibody-positive dermatomyositis can occur concomitantly with such a rare malignancy.

Background: Systemic lupus erythematous (SLE) is an autoimmune condition which can cause complex, multiorgan dysfunction. This autoimmune disease is caused by the production of antinuclear antibodies which allows this disease to target virtually any organ in the human body. When a patient experiences an unpredictable worsening of disease activity, it is generally considered a lupus flare. Organ dysfunction due to a lupus flare tends to manifest as separate events in the literature and rarely do we witness multiple compounding organ failures during a lupus flare. If we do witness organ dysfunction and failure, rarely do we see cardiac and cerebral involvement. Typically, patients take immunosuppressants for a long term to avoid the patient's disease process from worsening and to provide prophylaxis from a flare to occur. Despite the availability in preventive strategies, some patients will have increased disease activity multiple times throughout their lifetime and will need increases in their medication doses or changes to their regimen. Some flares can be managed in the clinic, but more severe ones may be life-threatening that they require intravenous medications and hospitalization to achieve remission. In the following case, we see a patient with a past medical history of SLE on multiple immunosuppressants who arrived at the hospital with acute, bilateral weakness of the upper and lower extremities. It was later determined via various imaging and laboratory testing that she was having an SLE flare that was directly causing myocarditis which progressed to global ischemia of the brain via myocardial hypoperfusion. She experienced substantial recovery from her flare with treatment with high-dose, intravenous corticosteroids. Case Report. A 27-year-old female with a 2-year history of lupus and a 1-week history of paroxysmal atrial fibrillation presented with three days of bilateral focal neurological deficits in the arms and legs. She was found to have ischemic cardiac and neurologic manifestations during her hospital stay.

Conclusion: Our patient presented with reversible focal neurological deficits, elevated high-sensitive troponin levels, and high lupus serum antibodies who showed significant improvement after the introduction of high-dose steroids. This case recommends keeping a large differential and to not discount patients' past comorbidities for causing atypical symptomatology.

A male patient in his early sixties with recurrent diarrhea was transferred to our hospital. The patient did not have any pulmonary or upper respiratory symptoms. He was noted to have peripheral eosinophilia. Further workup revealed a negative antineutrophilic cytoplasmic antibody titer but a positive myeloperoxidase antibody and positive proteinase 3 antibodies. A colon biopsy also revealed eosinophilic-rich granulomas in the mucosa, confirming a diagnosis of eosinophilic granulomatosis with polyangiitis. On cardiac imaging, eosinophilic myocarditis was also discovered. To treat active severe EGPA, the patient received high-dose corticosteroids and intravenous cyclophosphamide. The occurrence of gastrointestinal involvement as an initial manifestation of eosinophilic granulomatosis with polyangiitis is infrequent, emphasizing the significance of its recognition. This case underscores the importance of identifying and diagnosing such atypical presentations to facilitate timely and appropriate management.

Systemic lupus erythematosus (SLE) is an autoimmune disease that leads to a wide spectrum of clinical and immunological abnormalities. Hematologic abnormalities are an important manifestation of SLE. The incidence of autoimmune hemolytic anemia (AIHA) has been reported in approximately 10% of patients with SLE. Among them, mixed-type AIHA, which is caused by warm autoantibodies and cold hemagglutinin, is relatively rarely reported. We report the case of a 72-year-old woman, who was admitted to our hospital due to shortness of breath, jaundice, and severe anemia, with SLE and antiphospholipid syndrome (APS) complicated by mixed-type AIHA. Laboratory data revealed severe hemolytic anemia (low hemoglobin, high indirect bilirubin, and high lactate dehydrogenase levels), low complement levels, and the presence of antinuclear antibodies and lupus anticoagulant. Imaging results revealed pleural effusion and pulmonary embolisms, and echocardiogram revealed high estimated right ventricular pressure. She was diagnosed with SLE and APS complicated by mixed-type AIHA based on positive direct antiglobulin and cold agglutinin tests (thermal amplitude ≥30°C). As mixed-type AIHA is a severe and chronic condition, she was administered potent treatments with immunosuppressants. However, because she was a carrier of human T-cell leukemia virus type-1, only a moderate amount of prednisolone was administered. She refused to take warfarin. Fortunately, her symptoms and laboratory abnormalities improved after prednisolone administration, and no relapse occurred after tapering the prednisolone dose. Although mixed-type AIHA is characterized by fewer clinical symptoms than cold agglutinin disease, hemolytic anemia is more severe and chronic. Therefore, it is important to confirm the presence of cold agglutinins, which are active at ≥30°C in patients with SLE and warm AIHA. In addition, it is important to consider that AIHA is associated with thromboembolism, and patients with lupus anticoagulant or anticardiolipin antibodies having a history of AIHA are at a high risk of developing thrombosis.

Antisynthetase syndrome is a rare autoimmune disease within the subset of idiopathic inflammatory myopathies. The diagnostic criteria include the presence of an aminoacyl-tRNA synthetase antibody, and typical clinical findings, including myositis, mechanic's hands, Raynaud phenomenon, unexplained fever, and interstitial lung disease. We describe a case of a 59-year-old male who presented with a 1-month history of progressive purplish discoloration and pain of the fingertips, dyspnea, cough, weight loss, fatigue, and who developed progressive proximal muscle weakness and dysphagia. Investigations revealed pulmonic valve and mitral valve marantic endocarditis, pulmonary embolism, myositis, organizing pneumonia, and elevation of anti-OJ antibodies. He was diagnosed with antisynthetase syndrome and treated with high dose corticosteroids and mycophenolate mofetil with a fair response.

Objective: To describe four peripheral spondyloarthritis patients presenting with fever and severe systemic inflammatory response mimicking infection.

Methods: Between 2017 and 2019, four patients with the final diagnosis of peripheral spondyloarthritis had atypical presentation of fever and severe systemic inflammatory response requiring hospital admission and extensive workup.

Results: We reported four patients who were admitted to the hospital for fever and arthritis. They all had laboratory tests of the severe systemic inflammatory response (leukocytosis, thrombocytosis, high ESR, and high CRP) concerning infection. They underwent extensive workup for infectious causes, including septic arthritis, which came back negative. Other rheumatic diseases that are known to present with fever such as adult-onset Still's disease, reactive arthritis, and crystal arthritis were all excluded. The final diagnosis of spondyloarthritis was made during their follow-up: three patients with peripheral spondyloarthritis and one with psoriatic arthritis. All patients received conventional DMARDs (methotrexate and sulfasalazine) and two patients received tumor necrosis factor inhibitors in addition to conventional DMARDs to control their disease.

Conclusion: We observed a subgroup of peripheral spondyloarthritis patients presenting with fever and severe systemic inflammatory response requiring hospitalization. Recognition of this subgroup is important and should be considered once an infection is ruled out.

Immune-mediated necrotizing myopathy (IMNM) is an increasingly common and serious condition in which autoantibodies attack muscle fibers causing clinically significant muscle weakness, fatigue, and myalgias. Recognizing the clinical presentation of IMNM is difficult but necessary, as rapid intervention decreases morbidity. We present a case of a 53-year-old female with IMNM induced by statin therapy with confirmed anti-3-hydroxy-3-methylglutaryl coenzyme A reductase antibodies present on serologic testing. The patient's statin therapy was halted, and the patient was provided with one dose of methylprednisolone and ongoing therapy with mycophenolate. She showed subsequent slow improvements in her muscle weakness and myalgias. It is important for clinicians to be aware of the possible consequences of statin therapy, as these drugs are generally regarded as benign in the medical community. Clinicians should also be aware that statin-induced myopathy can occur at any time during statin therapy. The condition does not necessarily correlate with beginning a new statin medication, as demonstrated in this case in which the patient was on chronic statin therapy before developing symptoms. Continued clinician education and building the fund of medical knowledge regarding this disease are vital to enable clinicians to recognize this disease and act promptly to reduce patient morbidity and improve outcomes.

Diffuse alveolar hemorrhage (DAH) is described as the collection of blood in alveolar spaces caused by damaged pulmonary vasculature. It often presents as a life-threatening medical emergency that requires urgent medical intervention along with timely diagnosis and management of the underlying cause. We hereby report a 19-year-old female who presented with clinical and radiological characteristics consistent with DAH. Laboratory workup studies revealed a diagnosis of systemic lupus erythematosus (SLE) as well as Mycobacterium tuberculosis (MTB) infection. This report describes an extremely unusual case of undiagnosed SLE and coexistent tuberculosis presenting as DAH. This leads to an interesting possibility of risks in patients with immune-mediated vasculitis towards developing severe pulmonary disease in the setting of pulmonary mycobacterial infection.