AB1321 THE DIAGNOSTIC DELAY IN PATIENTS WITH SCHNITZLER SYNDROME: A CASE SERIES

Schnitzler syndrome is a rare syndrome associated with recurrent whealing and monoclonal gammopathy. Since its first description in 1972 by the French dermatologist Prof. Liliane Schnitzler, around 500 cases have been described in Europe. The diagnostic delay in Schnitzler syndrome of 5 years was previously reported [Lipsker et al, 2001]. Despite a growing clinical experience [de Koning et al, 2014], Schnitzler syndrome presents a diagnostic challenge in clinical practice. The variation in the diagnostic delay in Europe is a subject of an ongoing systematic review by our multidisciplinary team.In this work, we would like to analyze a diagnostic delay in the patients with Schnitzler syndrome followed up at tertiary clinical and research setting.We present the data from the patients with Schnitzler syndrome that have been under our care by a multidisciplinary team over a period from 2015 to 2021. All patients were analyzed for the age of disease onset and a diagnostic delay for Schnitzler syndrome.There are currently 14 patients with Schnitzler syndrome under our care. Of these, there were eight men and six women. The median age at the disease onset was 50.5 years, with the range from 25 to 79 years. The median diagnostic delay in our patient series was 3 years, ranging from 1 to 22 years. Noteworthy, in three patients the diagnostic delay for Schnitzler syndrome was over 5 years [6, 12 and 22 years]. Nine patients were treated with IL-1 inhibitors (iIL-1) (canakinumab and anakinra).Our analysis suggest that the diagnostic delay remains considerable even 50 years after the initial description of this syndrome. Our data on the diagnostic delay in Schnitzler syndrome is in keeping with the clinical experience in most countries with over 5 published cases, including France, Germany, Spain, Portugal and Italy. An early recognition of Schnitzler syndrome is crucial for prompt treatment targeting IL-1. The rarity of this syndrome and a wide range of initial signs and symptoms in these patients delay the correct diagnosis and a start of the biological therapy in these patients. An increased awareness of Schnitzler syndrome may reduce the diagnostic delay in these patients. A multidisciplinary approach is essential for an early diagnosis of Schnitzler syndrome.[1]Lipsker D et al. The Schnitzler Syndrome. Four new cases and review of the literature. Medicine. 2001; 80:37-44.[2]de Koning HD. Schniztler’s syndrome: lessons from 281 cases. Clin Transl Allergy. 2014; 4:41.None declared