Granulomatosis With Polyangiitis in a Young Adult With Down Syndrome: Therapeutic Challenges and Clues to Immunopathogenesis
Down syndrome (trisomy of chromosome 21) is the most common chromosomal abnormality among live-born infants, and its prevalence is increasing because of changing societal birth patterns and improved health care. Genes that are important in the development, activation, and regulation of the immune system are located on chromosome 21. Intriguingly, patients with Down syndrome have a higher rate of autoimmune phenomena compared with the general population. Granulomatosis with polyangiitis (GPA) is a rare multisystem autoimmune inflammatory disease affecting small blood vessels in different organs.1 We present a case of young adult patient with Down syndrome who presented with severe GPA. To our knowledge, this is the first reported case of GPA in an adult with Down syndrome. We also discuss possible immunogenetic links between Down syndrome and GPA, as well as the unique therapeutic challenges posed by this case.