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Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic

This study is currently Recruiting

August 2011 By University Hospital, Strasbourg, France

First Recieved on July 3, 2009

Last Updated on August 8, 2011

Sponsor: University Hospital, Strasbourg, France
Collaborators:
Information provided by: University Hospital, Strasbourg, France
Identifier: NCT00933296

Purpose

The Schnitzler syndrome is a rare entity characterized by an urticarial rash and recurrent fever in a patient with a monoclonal IgM component. Other frequent signs include joint, bone and muscle pain, enlarged spleen, liver and lymph nodes, increased blood sedimentation rate (BSR), elevated neutrophil count and abnormalities on bone morphologic investigations. In 2001, the investigators proposed criteria to diagnose this syndrome, which are currently admitted in the literature. The main complications of the Schnitzler syndrome are a difficult-to-control inflammatory anemia, AA-amyloidosis and malignant B lymphoproliferative disorders. About 15% of patients with a Schnitzler will eventually develop a lymphoproliferative disorder; thus this syndrome allows studying the relationship between lymphomagenesis and inflammation. By many aspects, the Schnitzler syndrome is reminiscent of auto-inflammatory syndromes. Though the term auto-inflammatory disease is as to yet restricted to diseases with Mendelian inheritance, some polygenic inflammatory diseases like for example Crohn's disease clearly involve pathogenetic pathways shared with the monogenic auto-inflammatory syndromes. The investigators stipulate that this could also be the case in the Schnitzler syndrome for the following reasons: (1) this is a recurrent fever of unknown cause; (2) the peculiar eruption, characterized pathologically by a neutrophilic infiltrate very similar to the one observed in the auto-inflammatory cryopyrinopathies (CINCA/NOMID syndrome, Muckle-Wells syndrome and familial cold-urticaria); the investigators recently individualized this particular eruption, significantly associated with systemic inflammatory disease, within the group of neutrophilic urticarias (Kieffer et al. Medicine, in press); (3) the occurrence of aseptic neutrophilic osteitis, very similar to the one reported in patients with Majeed syndrome, another auto-inflammatory syndrome; (4) a significant increase of neutrophil count, not otherwise explained; (5) a spectacular response to the IL-1 inhibitor, within hours after the first injection, similar to what is reported in the PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome or the cryopyrinopathies, suggesting a direct pathogenic effect of IL-1.

Study Type: Observational
Study Design: Observational Model: Case Control, Time Perspective: Prospective

Eligibility

Ages Eligible for Study:18 Years
Genders Eligible for Study:Both
Accepts Healthy Volunteers:Accepts Healthy Volunteers
Criteria

Inclusion Criteria: - patients with the Schnitzler syndrome according to criteria established by Lipsker D et al. Medicine (Baltimore) 2001;80:37-44 Exclusion Criteria: - children and pregnancy

Investigators

  • Investigator: Dan Lipsker, Pr - Principal Investigator - HUS

Locations

  • Service de DermatologieCHU Morvan5 avenue Foch

    BREST Cedex, 29609 France

  • Service de Rhumatologie Centre Hospitalier du Mans

    Le Mans Cedex 9, 72037 France

  • Service de DermatologieH?tel Dieu

    LYON Cedex 02, 69288 France

  • Service m?decine interne et th?rapeutique H?pital sainte marguerite

    Marseille Cedex 09, 13274 France

  • Service de Dermatologie H?pital Saint Eloi 80 avenue A Fliche

    MONTPELLIER cedex 5, 34295 France

  • Service de dermatologie CHU H?tel Dieu1 place Alexis Ricordeau

    Nantes, 44093 France

  • Unit? de m?decine interne Centre Hospitalier G. Renon

    Niort, 79021 France

  • Service d'immuno-h?matologie H?pital St-Louis 1 av Claude Vellefaux

    Paris, 75010 France

  • Service de m?decine interne H?pital Tenon4, rue de la Chine

    PARIS Cedex 20, 75970 France

  • Service de dermatologieCHU GUERIN2 rue de la Mil?trie

    POITIERS Cedex, 86021 France

  • BOYE Thierry

    Toulon, 83041 France

  • Service de m?decine interne-n?phrologie Centre Hospitalier Valenciennes

    Valenciennes, 59322 France

  • Azienda Ospedaliero Universitaria Policlinico

    Bari, 70122 Italy

  • Clinica DermatologicaUnivesit? de G?nesVialle Benedetto

    Genova, 716132 Italy

Conditions related to this trial:

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