Case Reports in Rheumatology最新文献

Systemic lupus erythematosus (SLE) can present in a multitude of ways, which can be confounding and misleading for a clinician. Chemosis as an initial presentation is rare and has only been documented on a few case reports. However, when present, simultaneous involvement of other organs is likely. We present a previously healthy 29-year-old male who presented with severe bilateral chemosis and was subsequently diagnosed with SLE and antiphospholipid syndrome. Complications included multiple acute cerebral infarcts, lupus psychosis, lupus pleuritis, and lupus nephritis. The patient recovered well with appropriate treatment and chemosis ultimately resolved. Recognizing chemosis as an initial presentation of SLE is vital for appropriate evaluation and timely treatment to prevent disease progression.

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease resulting from the interaction of genetic and environmental factors. In addition, some antiviral vaccines have been associated with the onset of SLE. Few cases of SLE occurring after SARS-CoV-2 mRNA have been reported. Herein, we report the case of a 27-year-old woman with type I diabetes mellitus and family history of SLE who presented with symmetric inflammatory polyarthritis of the proximal interphalangeal joints, metacarpophalangeal joints, wrists, knees, and ankles two weeks after receiving the second dose of the SARS-CoV-2 mRNA-1273 vaccine. Laboratory results revealed positive antinuclear, anti-dsDNA, anti-Ro, and anti-La/SSB antibodies and low C4 levels. She was initially treated with low-dose prednisone and hydroxychloroquine. Hydroxychloroquine was discontinued after she developed an urticarial rash. Subsequently, mycophenolate mofetil was added after she developed proteinuria. This case highlights the importance of considering the diagnosis of SLE in patients who present with inflammatory polyarthritis after COVID-19 vaccination.

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.