BACKGROUNDInfectious conditions in patients with autoimmune diseases are common, because both the pathological processes and the treatment can increase the risk of infections. However, despite being frequent, diagnosis in these cases can be challenging. CASE REPORTA 63-year-old white woman presents to the emergency department with cervical, axillary, and inguinal lymphadenopathy for 1 month, associated with daily fever, night sweats and weight loss. The patient had a previous diagnosis of rheumatoid arthritis and Sjögren's syndrome for 20 years, using methotrexate 20 mg/week and folic acid 5 mg/week since the diagnosis, without follow-up with a rheumatologist. The initial laboratory results were significant for hemoglobin levels of 9.4 (12.5-15.5), with leukocytes of 16,770 (3,500-10,500), with increased neutrophils and lymphocytes and lymphocytic atypia. The results also showed a non-PTH-mediated hypercalcemia, creatinine of 1.63 (0.5-0.9), hyperkalemia, hyperphosphatemia and increased levels of uric acid. Immunoglobulin levels were reduced and serologies for cytomegalovirus and Epstein-Barr virus (EBV) were negative. Protein electrophoresis had no monoclonal peak, tuberculin skin test was negative, serologies for HIV, syphilis and hepatitis C were negatives and serology for hepatitis B showed anti-HBc IgG and anti-HBs positives. Computed tomography (CT) scan revealed cervical, thoracic, and abdominal lymphadenopathy, hepatosplenomegaly and pulmonary nodules and opacities, which were suggestive of interstitial lymphocytic granulomatosis. Lymph node biopsy was performed, and dexamethasone 20 mg/day for 4 days and supportive treatment for tumor lysis syndrome were started. Biopsy showed atypical lymphoid proliferation, with focal expression of CD30 and EBV, without criteria for hematologic malignancy. Prednisone was started with clinical improvement and lymph node involution. Months after discontinuing the corticosteroid, the patient started new episodes of fever associated with dyspnea. CT scan showed an increase in pulmonary nodules, the appearance of new nodules and areas of consolidation. Laboratory tests showed EBV DNA quantification of 110,855 IU/mL (5.04 log IU/mL). Antibiotics and ganciclovir were started, but the patient did not respond and eventually died 18 days after admission. CONCLUSIONChronic active EBV infection is a rare, but serious condition. The only curative treatment regimen is hematopoietic stem cell transplantation, but other treatments like high dose corticosteroids or antiviral therapy have been used. Patients with rheumatic diseases who developed a persistent mononucleosis-like syndrome and hypogammaglobulinemia must be promptly evaluated, since delay in diagnosis can be life-threatening.

This report illustrates the phenotype of anti-MDA5-associated dermatomyositis: progressive interstitial lung disease, arthritis, specific cutaneous manifestations, and muscle sparing (clinical and laboratory). The investigation of the profile of autoantibodies related to SAMs adds to the assessment of differential diagnoses and prognostic stratification. For example, anti-MDA5 positivity is associated with rapidly progressive lung involvement and has a weak relationship with cancer, although it is not mutually exclusive. Thus, knowing that it is a rare condition, with potential severity and difficult to diagnose for the clinician, knowledge of the autoantibody profile of patients with suspected SAMs can favor a better clinical management of these individuals.

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BACKGROUNDAmyloid transthyretin (ATTR) amyloidosis is caused by systemic deposition of transthyretin (TTR) and can be divided in two main subtypes: the wild type (wtATTR) and the hereditary amyloidogenic transthyretin (hATTR) amyloidosis. V122I is the most common genetic variant in US, but over 80 TTR pathogenic mutations have been currently described. The main clinical feature is progressive polyneuropathy, associated with cardiac, renal, and ocular leptomeningeal involvement. hATTR predominantly presents as restrictive hypertrophic cardiomyopathy, associated with mild or absent peripheral polyneuropathy. On the other hand, isolated joint involvement caused by V122I hATTR is uncommon, with only few reports in the literature, but no one with synovitis or rheumatoid arthritis (RA) features. Herein, we aimed to report a case exclusively with RA-like manifestation of hATTR. CASE REPORTFemale patient, 34 years old, Caucasian, presented with symmetrical polyarthritis of wrists, metacarpophalangeal and ankles in 2005, during her first pregnancy postpartum period. Despite repeated and confirmed negative rheumatoid factor, anti-CCP, and anticarbamylated proteins autoantibodies, a left wrist synovial biopsy demonstrated histological findings of RA synovitis. Nevertheless, afterwards she failed multiple biologic disease-modifying antirheumatic drugs (bDMARDs), progressing to erosive arthritis and cervical spine involvement. In 2019, common variable immunodeficiency was diagnosed and etiology investigation was expanded with whole exome sequencing. A heterozygous TTR pathogenic variant V122I was revealed and, although a thorough investigation with cardiac magnetic resonance imaging, electroneuromyography of lower limbs, 24-h proteinuria, and subcutaneous fat biopsy revealed negative, previous histopathological wrist biopsy slides restained with Congo red demonstrated multiple amyloid deposits. Therefore, tafamidis was initiated, according to a hATTR diagnosis, culminating with pain improvement and partial response in synovitis. CONCLUSIONhATTR is characterized by heterogeneous manifestations such as progressive neuropathy and/or cardiomyopathy, with few reports in the literature of exclusively noninflammatory articular involvement. This case describes a patient with refractory severe RA, demonstrated by failure to multiple bDMARDs and axial joint involvement. Whole exome sequencing demonstrated TTR pathogenic variant V122I and histopathology confirmed synovial amyloid deposits. In summary, we must be aware of hATTR diagnosis, with its multiple facets and phenotypes, to avoid underdiagnosis and treatment delay.

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