Case Reports in Rheumatology最新文献

Familial Mediterranean fever (FMF) typically presents with recurrent attacks of fever and serosal inflammation with peritoneum, pleura, and synovium. We usually do not expect pericardial involvement at the early stages. FMF is an autoinflammatory disease, usually inherited with an autosomal recessive pattern. The patients typically have biallelic mutations in the MEFV gene, located on chromosome 16. Colchicine is the first-line treatment of FMF, which not only plays a crucial prophylactic role regarding the attack episodes, but also prevents amyloidosis. Colchicine resistance and intolerance in FMF patients have been rarely reported. Alternative anti-inflammatory agents are understood to be helpful in such cases. We describe a 13-year-old boy referred to our pediatric department complaining of chest pain, dyspnea, and tachycardia. Due to the massive pericardial and pleural effusion, a pericardiocentesis was performed, and a chest tube was inserted. Cardiac tamponade was considered as the initial diagnosis. After a month, he faced another episode of pleuritic chest pain, fever, tachycardia, and pleural and pericardial effusion. Evaluation for probable differential diagnoses including infection, malignancy, and collagen vascular disease showed no remarkable results. Finally, the mutation found by whole exome sequencing was confirmed by direct Sanger sequencing revealing a heterozygote c.44G > C (p.Glu148Gln) mutation in exon 2, confirming the clinical diagnosis of familial Mediterranean fever. Since he seemed to be nonresponsive to the maximum standard dose of colchicine, 100 mg of daily dapsone was added to his treatment regimen, which controlled the attack episodes well. FMF, while rarely initiated with cardiac manifestation, should be considered in patients with any early signs and symptoms of cardiovascular involvement.

The SARS-CoV-2 viral pandemic has had an immeasurable global impact, resulting in over 5 million deaths worldwide. Numerous vaccines were developed in an attempt to quell viral dissemination and reduce symptom severity among those infected. Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the production of antinuclear autoantibodies (ANAs) with heterogenic clinical manifestations, secondary to immune complex deposition in a multitude of organ systems. There are scarcely reported cases of SLE development following COVID-19 mRNA vaccination. We present a case of a 24-year-old male without preexisting conditions or family history of autoimmune disorders, presenting with SLE following the first dose of the SARS-CoV-2 Pfizer-BioNTech mRNA vaccine.

Stiff person syndrome (SPS) is a rare autoimmune disease caused by lack of inhibition to excitatory neurotransmitters in the central nervous system (CNS) leading to inappropriate motor unit firing. The pathophysiology is incompletely understood; however, high titers of antiglutamic acid decarboxylase antibody (anti-GAD Ab) are strongly associated with this disease. We present a 50-year-old woman with a history of ongoing gait and balance issues for 5 years with multiple negative workups. She recently had an acute exacerbation which left her bedbound, unable to move her legs or turn from side to side. After a negative workup at an outside hospital, the patient was discharged to a subacute rehabilitation facility. She then presented to our institution due to worsening of her condition and was ultimately diagnosed with SPS which was successfully treated. We review the case presentation and treatment options in the context of a severe disabling disease presentation.

Transverse myelitis (TM) is a rare complication seen in 1-2% of patients with systemic lupus erythematosus (SLE). Viral infections may cause TM in these patients by causing a dysregulation of their immune system. We report a 30-year-old woman with SLE who had influenza A and a few days later developed urinary retention, bilateral lower extremity paralysis, upper extremity weakness, and optic nerve and macular edema. Magnetic resonance imaging showed C4-T12 hyperintense lesions consistent with TM. She was treated with intravenous methylprednisolone 1 g daily for 3 days and then 6 cycles of monthly intravenous cyclophosphamide. This treatment was followed by oral prednisone. She had a remarkable clinical response. Visual acuity improved to her baseline, and muscle strength almost fully recovered. Clinicians should be aware that viral infections, including influenza, may induce TM. This case highlights the importance of early recognition and prompt treatment with immunosuppressive drugs in such cases.

Background: Though skeletal tuberculosis (TB) accounts about 3% of all TB cases, it occupies 10-35% of extrapulmonary TB cases. Common osteoarticular sites involved include the spine (40%), hip (25%), and knee (8%). Co-occurrence of rheumatoid arthritis (RA) and tuberculous arthritis involving peripheral joint is rarely reported in the literature. Case Presentation. We present a case of 42-year-old Sri Lankan-Sinhalese male with right knee joint pain and swelling for one-year duration. This patient had a history of long-standing RA with interstitial lung disease for which he was on multiple immunosuppressive medications including methotrexate, sulfasalazine, leflunomide, mycophenolate mofetil, and prednisolone. His knee joint aspiration fluid was positive for both acid fast bacilli (AFB) and polymerase chain reaction for TB (TB-PCR). He was started on anti-tuberculous chemotherapy.

Conclusion: TB should be considered as an important differential diagnosis for chronic mono-arthritis of knee joint with a high degree of suspicion, particularly where TB is endemic.

A 49-year-old man developed acute aseptic arthritis of the nonmigratory and asymmetrical type in his knee, ankle, and bilateral metatarsal joints 13 days after treatment with antibiotics for acute tonsillitis. He was diagnosed with tonsillitis-related arthritis after other rheumatic diseases were ruled out. Treatment with salazosulfapyridine, methotrexate, and methylprednisolone for 3 months did not completely improve. Then, tonsillectomy was undertaken and arthritis rapidly improved. Finegoldia magna (previously Peptostreptococcus magnus) was cultured from the microabscesses of the resected tonsils. After outpatient follow-up, the patient did not experience a relapse of arthritis for more than 2.7 years without any treatment. Poststreptococcal reactive arthritis (PSRA) is well described. However, up to 40% of patients with tonsillitis-related arthritis did not demonstrate evidence of streptococcal infection. It is noted that tonsillectomy is necessary to remove the tonsillar microabscesses and eradicate bacterial infection of the tonsils, especially for patients with a prolonged and/or recurrent course of PSRA and/or tonsillitis-related arthritis.

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.