Rula A. Hajj-Ali

Sarcoidosis is an autoimmune disease that can affect nearly every organ system, leading to a multitude of disease manifestations. The disease process is characterized by noncaseating granulomatous inflammation. The wide range of clinical presentations can make diagnosis difficult and, other than a biopsy showing characteristic noncaseating granulomas, there is no one sensitive or specific test to confirm the disease. When disease presents in the eye or ocular adnexa, it is also characterized by a wide range of presentations. Ocular involvement among patients with sarcoidosis is frequent, often the second- or third-most-common organ involved after the lungs, depending on the study population. ¹ Often, ocular disease is characterized by chronic uveitis, requiring co-management among the ophthalmologist, rheumatologist, and pulmonologist. In this chapter, we discuss the epidemiology, pathogenesis, diagnosis, clinical characteristics, prognosis, and treatment of sarcoidosis with particular attention to ocular disease.

Primary CNS vasculitis (CNSV) is a rare, idiopathic autoimmune disease that, if untreated, can cause significant morbidity and mortality. It is a challenging diagnosis due to multiple mimics that can be difficult to differentiate, given that the CNS is an immunologically privileged and structurally isolated space. As such, diagnosis requires comprehensive multimodal investigations. Usually, a brain biopsy is required to confirm the diagnosis. Treatment of CNSV involves aggressive immunosuppression, but relapses and morbidity remain common. This expert review provides the reader with a deeper understanding of presentations of CNSV and the multiple parallel diagnostic pathways that are required to diagnose CNSV (and recognize its mimics), highlights the important knowledge gaps that exist in the disease and also highlights how we might be able to care for these patients better in the future.

Diagnosis; Authors: T. Shimoyama, K. Uchino, L.H. Calabrese, R.A. Hajj-Ali

Full Papers; Authors: T. Shimoyama, K. Uchino, L.H. Calabrese, R.A. Hajj-Ali