A Tale of a Patient with Two Autoimmune Disorders

Abstract

Purpose: Wegener's granulomatosis (WG) is a rare clinical disorder affecting individuals with an underlying genetic susceptibility. The incidence of concurrent WG and Crohn's Disease (CD) is unknown. The diagnosis of both autoimmune disorders is challenging and requires a high level of suspicion. We describe a patient with a known history of CD presenting with persistent fevers, bloody diarrhea, and diffuse arthralgias despite treatment for a CD flare. The patient was ultimately diagnosed with WG based on positive serine protease 3 antibody (PR3). Case: A 36-year-old Pacific Islander male with a known history of diffuse CD presented with bloody diarrhea, skin blisters, fevers, and diffuse arthralgias. The patient was admitted to the medical service for treatment for a CD flare with IV steroids, mesalamine, and antibiotics. Comprehensive infectious disease evaluation was negative for bacterial, fungal and viral infections. Subsequently, the patient was transferred to the MICU for hypotension, persistent fevers up to 104.7, and tachycardia (HR=140's). An echo showed RV enlargement consistent with pulmonary hypertension. A CT scan of the abdomen and pelvis showed bilateral pulmonary nodules consistent with granulomatous disease and hypodensities in the splenic parenchyma concerning for splenic infarcts. Sarcoidosis was excluded by negative serum ACE; in addition, patient age and gender did not support this diagnosis. Colonoscopy with TI intubation showed erythema and friability from sigmoid to cecum consistent with CD. Biopsies showed active colitis and negative for AFB and CMV. Skin lesion biopsies were negative for infectious markers and positive for neutrophilic infiltrates. Significant lab findings included a marked PR3 positivity at 171 (cutoff for normal 19), highly specific for WG. The patient was started on treatment for WG including high-dose IV solumedrol and rituximab infusion with significant clinical improvement within 24 hours. He was ultimately discharged on prednisone taper and scheduled rituximab infusions. At his two-week follow-up clinic visit, the patient was doing well with complete resolution of his arthralgias, no further fevers and formed, non-bloody stools. We speculate that his CD flare may have been triggered by the onset of WG. Focused treatment for his WG also resulted in improvement in his CD flare. CD and WG are both autoimmune disorders with genetic susceptibilities that may overlap and may be triggered by infectious and environmental factors. The underlying mechanisms of WG and CD remain elusive. Future studies may help identify genes that overlap in both WG and CD but also provide ability to distinguish between these two autoimmune disorders.