Spectrum of Large- and Medium-Vessel Vasculitis in Adults: Neoplastic, Infectious, Drug-Induced, Autoinflammatory, and Primary Immunodeficiency Diseases

Abstract

Purpose of review: To provide a comprehensive review of drugs and neoplastic, infectious, autoinflammatory, and immunodeficiency diseases causing medium- to large-vessel vasculitis in adults with emphasis on information essential for the initial diagnostic process.

Recent findings: Entities with medium- to large-vessel vasculitis as clinical manifestations have been described recently (e.g., adenosine deaminase-2 deficiency, VEXAS-Syndrome), and vasculitis in established autoinflammatory or immunodeficiency diseases is increasingly being identified. In the diagnostic process of medium- to large-vessel vasculitis in adults, a large variety of rare diseases should be included in the differential diagnosis, especially if diagnosis is made without histologic confirmation and in younger patients. Although these disorders should be considered, they will undoubtedly remain rare in daily practice.

Keywords: Autoinflammation; Differential diagnosis; Infectious vasculitis; Primary immunodeficiency disease; Vasculitis.

Fig. 1

Case description: Male patient with a molecularly unclassified primary immunodeficiency (CVID-like) with frequent major infections in early childhood (e.g., meningitis). Laboratory findings consisted of intermittent neutropenia; mild lymphopenia with normal numbers of total T-cells and NK-cells; reduced naïve T cells, total and class-switched B cells; severely reduced IgG/IgM/IgA. Immunoglobulin replacement therapy was started before the age of 10. He developed a panaortic dilatation already in childhood, and a thoracoabdominal aortic replacement was performed at the age of 23. A, B Hematoxylin and eosin staining of the descending aorta showing intimal fibrosis (single star), block-like media necrosis (single arrow), transmural lymphohistiocytic infiltration with presence of giant cells (double arrow), and periadventitial fibrosis (double star); extensive microbial analysis of the specimen remained negative. C CT angiography of aorta (sagittal view) with aneurysm of the suprarenal abdominal and descending aorta