Schnitzler syndrome, a rare autoinflammatory disease. Complete response to IL-1 blockade.

Paola Faggioli,Antonino Mazzone,Lucia Roncoroni,Antonio Tamburello

doi:10.4081/cp.2017.1018

Paola Faggioli, Antonino Mazzone + Show 2 more

Open Access

https://doi.org/10.4081/cp.2017.1018

Copy DOI

Abstract

The Schnitzler syndrome (SCS) is a rare, late-onset acquired autoinflammatory syndrome often underdiagnosed. The diagnosis is based on the Lipsker and recently on validated Strasbourg diagnostic criteria (chronic urticarial rash, monoclonal gammopathy, intermittent fever, arthritis, arthralgia, bone involvement, hepatomegaly, splenomegaly, lymphadenopathy, dermal infiltration of neutrophils and laboratory markers of inflammation). Conventional therapies including anti-histamines, anti-inflammatory drugs, corticosteroids and immunosuppressive drugs that are usually ineffective. Recently the gold standard therapy of SCS are considered IL-1 blocking agents as anakinra, canakinumab, rilonacept that led to a significant control of clinical symptoms, even if a relapse could appear at suspension of the treatment. We report a case of a 63-year-old man with a recent diagnosis of SCS - after 6 years of symptoms of disease - refractory to several conventional immunosuppressive therapies and treated with anakinra, with sustained remission of clinic manifestations during treatment at 24 months of follow up.

Highlights

Schnitzler syndrome (SCS) is rare, orphan disease first described in 1972 by Liliane Schnitzler.[1]
Anakinra is the most commonly used agent to treat Schnitzler syndrome and recommended as of first choice treatment by a consensus conference of expert in 2012.7 So many authors suggest that the treatment with anakinra or others IL-1 blockade represent the gold standard in treatment of SCS when the conventional therapies are inefficacies.[17]
All the IL 1-blocade drugs, are strong effective in regulating inflammation, but they show a little effect on B cell and plasmacells on reducing monoclonal paraproteinemia, possible expression of a not downregulable

Summary

Introduction

Schnitzler syndrome (SCS) is rare, orphan disease first described in 1972 by Liliane Schnitzler.[1]. At 59 years he developed a mild monoclonal gammopaty IgM K (0.9 g/dL) He underwent to two bone marrow biopsies (BMB) in the same year, negative for hemathological malignancies and fever and rash disappeared for 6 months under steroid therapy. In November 2014 at 63 years he was hospitalized for increasing of urticarial skin lesions (Figure 1), appearance of diffuse bone pain, myalgias and arthritis of knees and wrists, remitting fever, diffuse lymphadenopathy, leukocytosis (WBC 19,000/mm[3] neutrophil cells 90%), elevated CRP (24 mg/dL), ESR (80 mm/1 h) and increase IgMk (2.3 g/dL). At 24 months of follow up, under anakinra therapy the patient persists asymptomatic (see photo 3), blood inflammation indices are normalized, monoclonal component IgMk is stable (1,5 g/dl) and no evolution on myelo-lymphoproliferative disease was observed. The patient gave permission to reproduce his photos, he could not be identifiable

Findings

Discussion

Conclusions