Case Reports in Rheumatology最新文献

Herein, we describe a patient with antiphospholipid syndrome (APS) associated with nonradiographic axial spondyloarthritis (NRAS). A 31-year-old woman with a past medical history of uveitis experienced a pulmonary thromboembolism in March 2014 and was treated with rivaroxaban (20 mg/day). Five months later, she started complaining of low back pain. The results on contrast-enhanced sacroiliac magnetic resonance imaging were normal. Laboratory tests revealed positive HLA-B27 and the presence of lupus anticoagulant and IgM anticardiolipin. The diagnoses of APS and NRAS were made. The patient was treated with rivaroxaban for APS and sulfasalazine (2 g/day), respectively. As she showed the presence of lupus anticoagulant antibodies in blood, she did not receive nonsteroidal anti-inflammatory drugs. After 6 months, the patient was asymptomatic, without lumbar pain; she also showed normalization of the erythrocyte sedimentation rate and the C-reactive protein and vitamin D levels, good control of lumbar pain, and no new uveitis episodes. The APS was also stable. To the best of our knowledge, this is the first reported case of NRAS associated with APS.

One of the most prevalent causes of vasculitis is bacterial infection. An infection that causes anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is uncommon and not reported frequently. We report a case of a 74-year-old male who presented with fever for ten days and was found to have brucellosis. Then, he was diagnosed with Guillain-Barré syndrome (GBS) and started on immunoglobulin (IVIG) for one week without a response. His fever was still persistent despite appropriate antibiotic therapy. Rheumatology evaluation revealed a history of multiple joint pain and swelling, elevated inflammatory marker, and a high titer of P-ANCA. Steroid therapy was started initially on the background of antibiotics therapy. His fever and other symptoms showed marked improvement after one week. However, P-ANCA titer was still elevated. The decision was made to treat the patient as a case of brucellosis-induced P-ANCA vasculitis. Azathioprine was added, and steroid was maintained for one month and then it was tapered gradually. All symptoms improved from the third month of follow-up except weakness from peripheral neuropathy with normalization of P-ANCA titer. His condition remained stable after six months of follow-up. Clinicians should be aware of the possibility of infection-induced vasculitis, particularly when patients' symptoms persist despite the appropriate use of antibiotics.

Relapsing polychondritis (RP) is a rare, severe connective tissue disease of unknown etiology affecting cartilaginous and proteoglycan-rich structures in an episodic and inflammatory manner. Approximately a third of RP cases occur in conjunction with another disease usually systemic autoimmune rheumatic disease, or myelodysplastic syndrome. Sickle cell disease (SCD) is a common inherited hematologic condition characterized by the inheritance of two abnormal hemoglobins, of which one is a hemoglobin S, presenting with severe acute and chronic complications from vaso-occlusive phenomena, which can be difficult to differentiate from RP. The pathogenesis of RP is poorly understood but suggests an autoimmune mechanism with a link to sickle cell disease yet to be established. Treatment is empiric with steroids, anti-inflammatory, and disease-modifying antirheumatic drugs being the mainstay of therapy. Severe complications occur despite treatment, with respiratory involvement being the most catastrophic. This case report reviews a complex case of RP in an 11-year-old girl with sickle cell disease (SF genotype) presenting with bilateral red painful eyes, a painful swollen left ear, and knee pain. Laboratory findings revealed elevated inflammatory markers with negative immune serology. A diagnosis of RP was made based on the patient's symptomatology, presentation, and fulfillment of 5 out of the 6 clinical features using McAdam's criteria. Management was instituted with a myriad of conventional and biologic DMARDs and other anti-inflammatory medications with no significant improvement and the development of complications of airway obstruction from disease activity and osteoporotic fracture from steroid therapy and underlying hemoglobinopathy. In children, the diagnosis of RP is delayed or overlooked due to its low incidence, variability in clinical symptoms, or sharing similar clinical features with other coexisting disease entities. This article reports its occurrence in the pediatric population and highlights the difficulty in managing such cases as there are no defined standard treatment protocols.

Acquired factor VIII deficiency is a bleeding disorder caused by the presence of autoantibodies against clotting factor VIII. We report a case of a 24-year-old pregnant woman who presented with gross hematuria secondary to acquired factor VIII deficiency in the presence of a previously undiagnosed connective tissue disease. This article includes a literature review of pregnancy-related cases of acquired factor VIII deficiency. We also reviewed various therapeutic approaches for the management of the acquired factor inhibitor which include achieving hemostasis and elimination of the inhibitor via immunosuppressive agents. This case report describes the rare presentation of acquired factor VIII deficiency related to pregnancy and highlights the importance of considering a factor VIII inhibitor in the differential diagnosis of patients who present with bleeding and prolonged PTT during the peripartum and postpartum periods.

Granulomatosis with polyangiitis (GPA) typically presents with upper or lower respiratory tract symptoms and/or with renal involvement. Although it can affect the peripheral nervous system frequently, with mononeuritis multiplex being the most common pattern, the occurrence of peripheral sensory-motor polyneuropathy as a presenting manifestation is distinctly rare. Prevalence of digital gangrene is also extremely rare in GPA. We describe a 46-year-old woman presenting with severe peripheral sensorimotor polyneuropathy affecting bilateral lower limbs preceded by a purpuric skin rash and multiple painful ulcers confined to the lower limbs. She had evidence of digital ischemia affecting multiple toes and dry gangrene of the left 4^th toe. Diagnosis of GPA was made based on skin biopsy, positive ANCA serology, and clinical criteria. She made a good recovery following aggressive immunosuppressive treatment with methylprednisolone and cyclophosphamide and was maintained on prednisolone and azathioprine. This case highlights the importance of suspecting GPA in a patient presenting with sensorimotor polyneuropathy and/or digital ischemia even in the absence of more classic presenting features and underlies the necessity of accurate differential diagnosis in evaluating a case of peripheral neuropathy.

Anti-melanoma differentiation-associated protein 5 (anti-MDA5) is a subset of dermatomyositis associated with respiratory complications, in which rapidly progressive interstitial lung disease (RPILD) is commonly cited, and spontaneous pneumomediastinum (SPM) is a rare complication. In medical literature, aggressive immunosuppressive therapy has been the mainstay of anti-MDA5-associated SPM management. Here, we report the first MDA5 case with SPM which was successfully treated with a double-lung transplant. We present a 48-year-old male who presented with multiple constitutional symptoms such as fevers, weight loss, malaise, and arthralgias, in association with erythroderma over the ears and fingers. Imaging of the chest demonstrated peripheral airspace disease, and myositis-specific serology returned positive for anti-Jo1 (medium-positive), anti-Ro52 (high-positive), and anti-MDA5 (weak-positive) autoantibodies. Therefore, the patient was begun on immunosuppressive therapy as the leading diagnosis included autoimmune myositis, possibly antisynthetase syndrome with interstitial lung disease (ILD). A year later, the patient presented with progressive shortness of breath, widespread macular erythematous facial rash, and new erythematous ulcerations over the fingertips. Imaging demonstrated a new SPM at this juncture. As the patient's respiratory status continued to decline despite the use of immunosuppressive agents, a double-lung transplant was performed. Therefore, we propose that lung transplantation should be considered early in MDA5-SPM.

Mixed connective tissue disease (MCTD) often presents as a slow progressive illness with low morbidity and mortality. Serious central nervous system disease is uncommon, and fatal outcomes are rarely seen. Here, we report a rare case of fatal hemorrhagic stroke in a 43-year-old female with a rapidly progressive MCTD. She presented to primary care with a history of headaches, visual disturbances, and unprovoked lower extremity swelling and pain. A rheumatological workup showed positive antinuclear (ANA) and ribonucleoprotein (RNP) antibodies. Magnetic resonance imaging (MRI) found a 12 mm hemorrhage along a cortical sulcus of the right frontal lobe, and a follow-up magnetic resonance angiography (MRA) and ophthalmological exam showed no definitive signs of vasculitis. Over the course of her workup, she developed swollen hands, Raynaud's syndrome, myalgias, and synovitis characteristic of evolving MCTD. The patient then began to experience severe headaches over one month. Repeat MRI was ordered, but never completed, and the patient presented to the emergency department (ED) with a severe, right-sided headache, and left-sided visual disturbance. In the ED, she began to display evidence of delirium and seizure activity and became unresponsive. A computerized tomography scan (CT) of the brain showed a right parietal lobe intraparenchymal hemorrhage approximately 5 × 3 × 5 cm in size with secondary mass effect including mid- and hind-brain herniation. Computerized tomography angiography (CTA) of the brain showed signs of large vessel vasculitis. A craniectomy was performed; however, the patient never regained consciousness and died several days later. Vasculitis, while rare in connective tissue diseases, should be aggressively assessed for and managed in patients with any early signs and symptoms of cerebrovascular involvement to prevent fatal outcomes.

Gout is a common inflammatory arthritis that has a high prevalence worldwide. It is characterized by monosodium urate deposition, usually affecting the joints and soft tissue of the lower extremities. Urate deposition in the axial skeleton resulting in spinal gout is rare. However, it seems to be more prevalent than usually thought, largely because it is underdiagnosed. Imaging findings are, for the most part, nonspecific and often mimic infectious etiologies. Definitive diagnosis requires pathological examination. Thus, it can be easily missed. We present a 41-year-old male with a seven-year history of untreated gout who came in with severe back pain, fevers, and radiculopathy. He was initially diagnosed with vertebral osteomyelitis. However, after a biopsy, spinal gout was confirmed. Spinal gout can be misdiagnosed as vertebral osteomyelitis given the similarities in presentation and imaging findings. This case report highlights the importance of keeping spinal gout as a differential of vertebral osteomyelitis, especially in patients with long-standing or uncontrolled gout with tophi.

Introduction: Aortic involvement leading to aortitis in eosinophilic granulomatosis polyangiitis (EGPA) is infrequent, and only 2 cases have been reported so far in the literature. Even more so, aortic aneurysm, secondary to EGPA, has never been reported and remains a diagnostic and therapeutic challenge. Case Presentation. We present a 63-year-old Caucasian male patient with a prior diagnosis of EGPA presenting with abdominal pain, nausea, and loose stools to the emergency department. Physical examination showed periumbilical tenderness. He had no peripheral eosinophilia but had high C-reactive protein and procalcitonin levels. CT abdomen revealed a mycotic aneurysm involving the infrarenal abdominal aorta. The patient declined surgical repair initially and was treated with IV antibiotics only. Unfortunately, 24 hours later, the aneurysm ruptured, leading to emergent axillofemoral bypass surgery. Surgical biopsy showed aortitis, periaortitis, and active necrotizing vasculitis.

Conclusion: Abdominal aneurysms should be considered a complication of EGPA, and earlier immunosuppressive therapy should be considered to prevent further complications.

Recently, treatment for rheumatoid arthritis has dramatically improved but increases the risk of bacterial and opportunistic infections. Herein, we report a fatal case of concurrent disseminated tuberculosis, pneumocystis pneumonia, and septic shock due to pyelonephritis caused by extended-spectrum β-lactamase-producing Escherichia coli in a patient with rheumatoid arthritis who received methotrexate, glucocorticoid, and tocilizumab. Despite undergoing intensive treatment, the patient developed respiratory failure and died after 7 days of admission. An autopsy indicated that pulmonary tuberculosis were the ultimate causes of death, while pyelonephritis was controlled.