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Schnitzler Syndrome

Practice Essentials

Schnitzler syndrome is an autoinflammatory disease characterized by chronic, nonpruritic urticaria in association with recurrent fever, bone pain, arthralgia or arthritis, and a monoclonal gammopathy, most often of the immunoglobulin M (IgM) subtype. Approximately 10-15% of patients eventually develop a lymphoproliferative disorder, such as lymphoplasmacytic lymphoma, Waldenström macroglobulinemia, or IgM myeloma. See the image below.

Rash of Schnitzler syndrome. Courtesy of DermNet N

Rash of Schnitzler syndrome. Courtesy of DermNet New Zealand (http://www.dermnetnz.org/assets/Uploads/systemic/schnitzler.jpg).

Signs and symptoms

Schnitzler syndrome is characterized by the following signs and symptoms:

Chronic, recurrent, urticarial eruption: Occurs in all patients, usually as the first sign of the disease; primarily affects the trunk and the extremities and spares the palms, soles, and head and neck areas

Pruritus: Usually absent at disease onset, but lesions may become mildly pruritic in approximately 45% of patients after 3-4 years

Recurrent fevers: In approximately 90% of patients

Relapsing arthralgias: Concurrent with fever; reported in 80% of patients

Bone pain: Concurrent with fever; reported in 70% of patients

Myalgias: Concurrent with fever

Lymphadenopathy

Hepatomegaly

Splenomegaly

Fatigue

Weight loss

Angioedema: Very rare

The urticarial rash is characterized as follows:

Pale-rose, slightly elevated papules and plaques

Individual lesions are 0.5-3 cm in diameter

New lesions appear daily

Lesions last 12-24 hours and then disappear without sequelae

See Clinical Presentation for more detail.

Diagnosis

Laboratory studies

Immunoglobulin M (IgM) or rarely IgG monoclonal gammopathy: Detected with serum immunoelectrophoresis, and the titers are low (usually < 10 g/L; occurs in all patients; in 51% of cases, however, serum protein electrophoresis may not detect it

Elevated erythrocyte sedimentation rate (ESR): Found in most cases

Elevated C-reactive protein level: Also detected in most cases

Leukocytosis: 70% of patients

Thrombocytosis: 20% of patients

Anemia: 50% of patients

Abnormal lymphoid proliferation: 20% of bone marrow biopsy samples, with nonspecific polyclonal lymphocytic and plasmacytic infiltrates

Imaging studies

Radiologic evaluation shows evidence of hyperostosis in 35% of Schnitzler syndrome patients. Often, the areas of hyperostosis coincide with areas of symptomatic bone pain, such as the iliac bone, tibia, femur, and vertebral column.

See Workup for more detail.

Management

Nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and immunosuppressive agents have been reported to provide variable relief from the symptoms of bone pain and arthralgias associated with Schnitzler syndrome.

Systemic steroids may be somewhat effective at controlling the cutaneous eruption, but usually at doses that can cause significant, long-term adverse effects.

Pefloxacin mesylate may be a therapeutic option. In a case series of 11 patients, it was shown to significantly reduce the intensity and frequency of many of the manifestations of Schnitzler syndrome in a majority of the group, and it provided a steroid-sparing effect for some patients being treated with systemic corticosteroids.

Inhibitors of interleukin (IL)–1 (anakinra, rilonacept and canakinumab) appear to be particularly effective.

See Treatment and Medication for more detail.

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