Anti-Jo-1 Syndrome Often Misdiagnosed as Rheumatoid Arthritis (for Many Years): A Single-Center Experience.

BACKGROUND: Antisynthetase syndrome is characterized by a triad of myositis, arthritis, and interstitial lung disease. Anti-Jo-1 is the most common associated autoantibody. This study planned to look at the presentation of anti-Jo-1 antisynthetase syndrome in a single Indian center. METHODS AND MATERIALS: This was a medical records review single-center study that included patients with anti-Jo-1 antisynthetase syndrome over 10 years. RESULTS: This study included 27 patients with anti-Jo-1 antisynthetase syndrome, with mean age of 40 ± 9.2 years and female preponderance (female-to-male ratio, 4:1). At presentation, the characteristic triad was present in only 4 patients. A majority presented with the incomplete form, with 2 clinical features (of triad) in 11 and single feature (of triad) being present in 12 patients at initial presentation. Seven presented only with polyarthritis, out of which 6 had been earlier diagnosed as rheumatoid arthritis. Time gap from diagnosis of "rheumatoid arthritis" to antisynthetase syndrome ranged from 3 to 20 years. In patients who had only arthritis in the beginning, there was a significantly longer delay to diagnosis of antisynthetase syndrome, higher frequency of rheumatoid factor, and lower frequency of anti-Ro-52. Overall, outcome was good, with Eastern Cooperative Oncology Group class 1 or 2 in most except 2 patients. CONCLUSIONS: Anti-Jo-1 antisynthetase syndrome commonly presented as incomplete (not a triad) and often only with arthritis. These patients are diagnosed and treated as rheumatoid arthritis for many years, before a diagnosis of antisynthetase syndrome is made. Being aware of this presentation may help in earlier diagnosis by actively searching for subtle clues.

Pulmonary Cryptococcoma Masquerading as Lung Cancer.

We report a case of pulmonary cryptococcoma, in an adult with recently detected diabetes, mimicking as lung cancer. A 45-year-old gentleman with past history of pulmonary tuberculosis presented with fever, cough with expectoration, pleuritic chest pain and hemoptysis. Chest radiograph and computed tomography revealed right lower lobe mass which significantly enhanced on contrast administration. Ultrasound guided biopsy was done which on histopathological examination showed non-necrotizing granulomas with narrow-based budding yeast cells suggestive of cryptococcosis. Detailed work-up for dissemination of infection was negative. A dramatic response to anti-fungal treatment was observed and the patient is doing fine on follow-up.

An Interesting Case of Bilateral Lung Consolidation.

Organising pneumonia is a histopathological entity characterised by intra-alveolar buds of granulation tissue, intermixed myofibroblasts and connective tissue. Cryptogenic organising pneumonia (COP) is characterised by this particular histopathological pattern, along with typical clinical and imaging features, when no other underlying aetiology is found. COP (previously known as bronchiolitis obliterans organising pneumonia [BOOP]) is one of the rare variants of interstitial pneumonias. This condition is characterised by a rapid clinical and radiological improvement with steroid treatment. Here we are reporting a case of COP in adult female with discussion on approach and basic pathophysiology of this type of pneumonia.

Case report peripheral ulcerative keratitis with nodular scleritis, presents as the primary manifestation of granulomatosis with polyangiitis.

Granulomatosis with polyangiitis (GPA) is an ANCA-associated autoimmune disorder that typically affects small and/or medium-sized blood vessels. Being a life-threatening disease, with timely suspicion, targeted laboratory investigations, and collaborative management from the ophthalmologist and rheumatologist led to long-term remission of the disease. Case: A 38-year-old female complaining of recurrent deep boring pain with redness in her left eye for many years, which was diagnosed as nodular scleritis with peripheral ulcerative keratitis. The patient also has recurrent bouts of epistaxis and in suspicion of GPA laboratory investigations were carried out and later diagnosed. She was started on cyclophosphamide and is currently under maintenance with rituximab. Case discussion: Ocular involvement has been shown to occur in 20-50% of the population in several studies. It causes conjunctivitis, episcleritis, scleritis, necrotizing keratitis, corneoscleral perforation, posterior uveitis, and optic neuritis. The positive C-ANCA and high PR3 autoantibody have high sensitivity and association with GPA. Cyclophosphamide has been shown to be an effective treatment in multiple studies whereas rituximab has been emerging as a new treatment modality for maintenance, which in turn helps in the remission and relapse of GPA cases. Conclusion: Scleritis and peripheral ulcerative keratitis can be the manifestation of a GPA. Careful evaluation, diagnosis, and management with a multidisciplinary medical team, early start of cyclophosphamide, and rituximab have a huge role in decreasing the disease activity and is life-saving.

Rise of biologics in noninfectious uveitis: a retrospective cohort study from Nepal.

Uveitis is a sight-threatening disease that poses a heavy burden on the quality of life. The treatment of uveitis has been revolutionized in the past two decades. Most remarkable among these is the emergence of biologics, which have shown to be effective and safer therapeutic option in noninfectious uveitis. Biologics are very useful when conventional immunomodulator therapy has failed or has been poorly tolerated. The most widely used biologics are tumor necrosis factor-α inhibitors (infliximab and adalimumab) with promising results. Other drugs include anti-CD20 inhibitors (rituximab), interleukin-6R-inhibitor (tocilizumab), interleukin-1R-inhibitor (anakinra), and Janus-associated kinase inhibitor (tofacitinib). Methods: A retrospective review of all cases of noninfectious uveitis and scleritis presenting to our center from July 2019 to January 2021 and had been treated with biological therapy were included. Results: We included 12 eyes of 10 patients. The mean age was 42.10±9.71 years. Anterior nongranulomatous uveitis comprised 70% of the cases and the most common etiology of anterior uveitis was spondyloarthritis (seven cases among which five cases were nonradiographic) axial spondyloarthritis (human leukocyte antigen B27 positive) followed by radiographic axial spondyloarthritis (two cases). The first line of treatment in all cases was conventional synthetic disease-modifying antirheumatic agents among which 50% (n=5) had received methotrexate (≥15 mg/week). As a second line of treatment, one or more biologics was used. Majority of the patients received oral tofacitinib 50% (n=5) followed by Inj adalimumab 30% (n=3). One case of Behcet's disease required sequential biologics (Inj adalimumab followed by oral tofacitinib). All patients tolerated and responded well to the treatment and no recurrences were observed after discontinuation of biologics drugs during the follow-up period of 1 year. Conclusion: Biologics are a relatively safe and effective modality of treatment in refractory, recurrent noninfectious uveitis.

Concurrent occurrence of acute pancreatitis and intracerebral hemorrhage as presenting manifestations in lupus: a case report.

Systemic lupus erythematosus (SLE) is a rare autoimmune condition that may affect almost every organ system and has a wide range of disease severity. It is characterized by a spectrum of clinical manifestation, a plethora of autoantibodies, and immune complex formation. The symptoms can come from any organ system, alone or in a group, and they can be of any severity, which makes diagnosis and prognosis difficult. Case presentation: The authors hereby present the case of an 18-year-old female with chief complaints of fever, abdominal pain, headache, vomiting, and loss of vision. She was diagnosed with acute pancreatitis (AP) and intracerebral hemorrhage (ICH) with an etiology linked to SLE. SLICC criterion was used to diagnosed SLE while ATLANTA criteria for AP and neuro-radiological findings for ICH. Emergency temporo- parietal-occipital-osteoplastic craniotomy was done for ICH as well as started with immunosuppressive therapy for SLE. On the 18th day of admission, she was discharge with maintenance medications for SLE. While the vision took over a month to come to a premorbid state, she was clinically improved within 2 weeks of admission. Clinical discussion: Clinical manifestation of SLE vary greatly. AP and intracranial bleeding are few of the rare presentation of SLE. Acute presentation of both conditions in an otherwise healthy individual in the initial course of disease left the clinician with a wide array of differentials. Literature shows very little evidence of co-occurrence of ICH and pancreatitis as an initial manifestation in SLE patients. The exclusive diagnosis of these potentially fatal condition is made holistically with clinical, biochemical, and radiological parameters. Conclusion: SLE may present with atypical, life-threatening initial manifestations. Early diagnosis and timely intervention in therapy can lead to successful management. The treating physician must consider, SLE when a straightforward diagnosis is associated with inexplicable multiple concomitant abnormalities, especially in young women.

The pattern of sarcoid uveitis at a tertiary care center in Nepal.

Sarcoidosis is an idiopathic, multisystemic granulomatous disorder involving the eye with various ocular presentations, the most common being sarcoid uveitis. The diagnosis was based on typical clinical features, chest radiography, laboratory findings and biopsy based on revised International Workshop on Ocular Sarcoidosis criteria. Here in, the authors aim to present the first report on the trend of cases of sarcoid uveitis in Nepal. Materials and Methods: A retrospective quantitative cross-sectional study was conducted at the uveitis clinic of the Institute of Medicine by obtaining medical data from the medical record section on sarcoid uveitis cases visiting from March 2018 to March 2021. Demographic profile, ocular findings, laboratory findings and treatment details were documented and statistical analysis was done via Statistical Program for Social Science (SPSS) version 23. Results: Out of 50 eyes of 30 patients included in the study; 66.6% patients (n=20) had bilateral and 33.3% (n=10) had unilateral ocular involvement. Anterior with intermediate uveitis (26.7%) was the most common type of uveitis among the cases. Serum angiotensin converting enzyme was raised in 66.7%, Chest X-ray showed hilar changes in 63.33%, and high-resolution computed tomography showed mediastinal, hilar lymphadenopathy with or without the involvement of the lung in 63.33% of patients. Conclusion: Sarcoid uveitis may have varied ocular presentations, the commonest being anterior and intermediate uveitis. The commonest complications are cataract and cystoid macular oedema, which are associated with vision loss. Steroids and immunomodulators are the mainstays of treatment.