ABSTRACT
PURPOSE: Peripheral ulcerative keratitis (PUK) is a sight threatening disease, often immune mediated and can rapidly progress to corneal perforation. Here we report the successful management of simultaneous bilateral peripheral ulcerative keratitis presenting with corneal perforation with surgical intervention and systemic immunosuppression. CASE DESCRIPTION: A 41-year-old female presented with similarly located super-nasal peripheral ulcerative keratitis (PUK) in both eyes and focal area of adjoining scleritis in the left eye. Serological investigations for systemic immune-mediated conditions showed positive rheumatoid factor test. She underwent cyanoacrylate glue application in both eyes, and was started on topical and oral corticosteroids and oral immunomodulators, and the right eye stabilized. The left eye required a second surgical intervention with a corneal patch graft following which the condition stabilized. CONCLUSION AND IMPORTANCE: This case highlights the importance of investigating for an underlying systemic etiology in PUK and the role of systemic immunosuppression prior to and after surgical intervention in order to arrest the disease and prevent recurrences.
ABSTRACT
OBJECTIVE: Deficiency of adenosine deaminase 2 (DADA2) is a potentially fatal monogenic syndrome characterized by variable manifestations of systemic vasculitis, bone marrow failure, and immunodeficiency. Most cases are diagnosed by pediatric care providers, given the typical early age of disease onset. This study was undertaken to describe the clinical phenotypes and treatment response both in adults and in children with DADA2 in India. METHODS: A retrospective analysis of pediatric and adult patients with DADA2 diagnosed at various rheumatology centers across India was conducted. Clinical characteristics, diagnostic findings, and treatment responses were analyzed in all subjects. RESULTS: In total, 33 cases of DADA2 were confirmed in this cohort between April 2017 and March 2020. Unlike previous studies, nearly one-half of the confirmed cases presented during adulthood. All symptomatic patients exhibited features of vasculitis, whereas constitutional symptoms and anemia were more common in pediatric patients. Cutaneous and neurologic involvement were common, and 18 subjects had experienced at least one stroke. In addition, the clinical spectrum of DADA2 was expanded by recognition of novel features in these patients, including pancreatic infarction, focal myocarditis, and diffuse alveolar hemorrhage. Treatment with tumor necrosis factor inhibitors (TNFi) was initiated in 25 patients. All of the identified disease manifestations showed marked improvement after initiation of TNFi, and disease remission was achieved in 19 patients. Two cases were complicated by tuberculosis infection, and 2 deaths were reported. CONCLUSION: This report presents the first case series of patients with DADA2 from India, diagnosed by adult and pediatric care providers. The findings raise awareness of this syndrome, particularly with regard to its presentation in adults.
Subject(s)
Agammaglobulinemia/physiopathology , Gastrointestinal Diseases/physiopathology , Hematologic Diseases/physiopathology , Kidney Diseases/physiopathology , Nervous System Diseases/physiopathology , Severe Combined Immunodeficiency/physiopathology , Adenosine Deaminase/genetics , Adenosine Deaminase/metabolism , Adolescent , Adult , Agammaglobulinemia/diagnosis , Agammaglobulinemia/drug therapy , Agammaglobulinemia/genetics , Age of Onset , Anemia/physiopathology , Child , Child, Preschool , Delayed Diagnosis , Female , Glucocorticoids/therapeutic use , Hemorrhage/physiopathology , Humans , India , Infant , Infarction/physiopathology , Intercellular Signaling Peptides and Proteins/genetics , Intercellular Signaling Peptides and Proteins/metabolism , Leukopenia/physiopathology , Lung Diseases/physiopathology , Male , Myocarditis/physiopathology , Pancreatic Diseases/physiopathology , Retrospective Studies , Severe Combined Immunodeficiency/diagnosis , Severe Combined Immunodeficiency/drug therapy , Severe Combined Immunodeficiency/genetics , Stroke/physiopathology , Treatment Outcome , Tumor Necrosis Factor Inhibitors/therapeutic use , Vasculitis/physiopathology , Young AdultABSTRACT
A 19-year-old girl presented with severe pain and redness in her right eye and also with nasal congestion and epistaxis since the past 5 months. The patient was systemically investigated and tested positive for proteinase 3 anti-neutrophil cytoplasmic antibody (PR-3 ANCA) with raised erythrocyte sedimentation rate (ESR). The provisional diagnosis of granulomatosis with polyangiitis (GPA) was made, and she was started on systemic steroids and azathioprine after consultation with the rheumatologist. However on steroid taper, she developed severe reactivation of the scleritis and the corneal involvement was noted in the form of peripheral ulcerative keratitis. Instead of starting another course of high dose oral cortico-steroids or pulse cyclophosphomide, she was started on rituximab infusion (two doses), and oral methotrexate was added, leading to the successful remission of the disease.
