SAVI SYNDROME: LITERATURE REVIEW AND FAMILY CASE IN RHEUMATOLOGY AND PULMONOLOGY

SAVI syndrome – STING-associated early-onset vasculopathy – a rare monogenic autosomal dominant autoinflammatory disease associated with a mutation in the TMEM173 gene, belongs to type 1 interferonopathies. It is characterized by early onset, fever, skin rashes (vasculopathy), arthritis, interstitial lung disease (ILD), increased levels of acute phase markers, and the presence of autoantibodies (antinuclear factor, rheumatoid factor and other antibodies). The main treatment is glucocorticoids, JAK inhibitors. This publication provides an overview of the literature on this rare disease, as well as a few family observations. We present our own clinical cases: 2 children from twins and a father from the same family suffering from SAVI syndrome, the therapy of these patients, a complex diagnostic path, including genetic diagnostics, starting with a pulmonologist, a geneticist and ending with a rheumatologist. When analyzing the presented family case, it is obvious that patients with SAVI syndrome can encounter in the practice of a rheumatologist and a pulmonologist. Children with early onset with systemic manifestations (fever, skin rashes, lymphadenopathy, hepatolienal syndrome), arthritis in combination with ILD, increased ESR, C-reactive protein, and the presence of autoantibodies require special attention. It is extremely important to collect a family history to identify similar cases in relatives and to perform genetic testing in a timely manner.