Schnitzler Syndrome in a 27-Year-Old Man: Diagnostic and Therapeutic Dilemma in Adult Auto-Inflammatory Syndromes A Case Report and Literature Review

Ewa Więsik-Szewczyk,1 Anna Felis-Giemza,2 Mirosław Dziuk,3 Karina Jahnz-Różyk1 1Department of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine in Warsaw, Warsaw, Poland; 2Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland; 3Department of Nuclear Medicine, Military Institute of Medicine in Warsaw, Warsaw, PolandCorrespondence: Ewa Więsik-SzewczykDepartment of Internal Medicine, Pulmonology, Allergy and Clinical Immunology, Military Institute of Medicine in Warsaw, Szaserów 128 01-141, Warsaw, PolandTel/Fax +48 261 816 581Email ewa.w.szewczyk@gmail.comAbstract: A 32-year-old-man, with a history of chronic urticaria from the age of 27, diagnosed with an adult-onset Still’s disease and received a low dose of glucocorticoids, methotrexate and tocilizumab. Despite the long-term combined treatments, he suffered from chronic urticaria, low-grade fever and bone pain. He was found to have high inflammatory markers, hypogammaglobulinemia, monoclonal IgM – kappa light chain in serum and increased radiotracer uptake in the whole bone scintigraphy. No pathological variants for monogenic autoinflammatory diseases were present in the genome exome sequencing. These investigations confirmed the diagnosis of Schnitzler syndrome, which is an exception before the age of 35. Switching from tocilizumab to interleukin 1 receptor inhibitor, anakinra led to a full clinical response and normalisation of inflammatory markers. Patients with a history of fever and chronic urticaria are routinely tested for monoclonal gammopathy in the context of malignancy, but it should also be considered as a sign of the autoinflammatory syndrome. The Schnitzler syndrome and the adult-onset Still’s disease share common features, so the diagnosis requires a thorough investigation to establish an optimal treatment. In the diagnostic algorithm, monoclonal gammopathy is usually considered red flag for malignancy but might be overlooked as a criterion of Schnitzler syndrome, particularly in young adults. We confirm that the interleukin 1 inhibitor should be the first line of therapy in Schnitzler syndrome, and in the presented case we found it more effective than the interleukin 6 blockade. The main goal of this paper is to increase awareness of Schnitzler syndrome among health care professionals. We aim to present features which can be helpful in differential diagnosis.Keywords: chronic urticaria, monoclonal gammopathy, tocilizumab, anakinra, autoinflammation