Schnitzler syndrome is a very rare immunological disease. Presenting signs and symptoms are an urticarial rash, intermittent fevers, myalgia, arthralgia, bone pain, lymphadenopathy, and peripheral neuropathy. Monoclonal IgM gammopathy is the main pathological feature that leads to symptoms while a chronic relapsing course is usually observed. The diagnosis rests on clinical criteria, a thorough laboratory assessment (frequently showing anemia and neutrophilia, along with abundant IgM levels), and a biopsy of the skin that confirms the presence of a neutrophilic infiltrate.
Schnitzler syndrome is a very rare autoinflammatory disease that seems to arise from an IgM monoclonal gammopathy    . The pathogenesis still remains incompletely understood, but the clinical presentation has been well-documented in the literature. The cardinal feature of patients suffering from Schnitzler syndrome is a chronic urticarial rash   . Urticaria is the presenting manifestation in many individuals and appears years before other notable symptoms and signs of Schnitzler syndrome    :
- Fever - A chronic course of fever that possesses an intermittent pattern is seen in 75% of patients    . Fever often accompanies the onset of urticaria, while some cases have been described in whom the rash appeared after fever  .
- Pain - Myalgia, arthralgia, and bone pain are frequent manifestations seen in this syndrome, together with fatigue   .
- Peripheral neuropathy - From 7%-56% of individuals suffer from peripheral neuropathy according to different studies  .
- Night sweats, weight loss, hepatomegaly, and splenomegaly are less commonly encountered   .
Lymphadenopathy is also an important sign, being present in more than 40% of cases . The clinical course of Schnitzler syndrome is often described as several-years long before the diagnosis is made  . It is important to mention that similarly to other monoclonal gammopathies, a significant risk exists toward the development of a lymphoproliferative disorder, such as IgM myeloma or marginal B-cell lymphoma  .
Entire Body System
Clinical Commissioning Policy: Anakinra to treat periodic fevers and autoinflammatory disorders (all ages) (PDF). p. 18. Retrieved 11 July 2018. ^ Gusdorf, L.; et al. (February 2017). [en.wikipedia.org]
Fever often accompanies the onset of urticaria, while some cases have been described in whom the rash appeared after fever. Pain - Myalgia, arthralgia, and bone pain are frequent manifestations seen in this syndrome, together with fatigue. [symptoma.com]
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 [emedicine.com]
Except of the severe alteration of quality of life related mainly to the rash, fever and pain, complications include severe inflammatory anemia and AA amyloidosis. [hal.archives-ouvertes.fr]
At least 90% of patients can have recurrent fevers that can present daily, or only a few times a year. The fevers often can be over 40ºC, and can last for 1-2 days. Chills are not common, and the rash does NOT always occur along with the fever. [autoinflammatory.org]
- Weight Loss
We describe here a 48-year-old woman with a monoclonal IgM gammopathy and a 3-year history of chronic pruritic urticarial dermatosis, unexplained fevers, chronic polyarthritis, lymphadenopathy, leukocytosis, hepatomegaly, and weight loss. [jhu.pure.elsevier.com]
Patients suffer from felling ill, and fatigues, and can experience weight loss. Around 45% of patients may have enlarged lymph nodes, enlarged liver and/or spleen. [autoinflammatory.org]
Night sweats, weight loss, hepatomegaly, and splenomegaly are less commonly encountered. Lymphadenopathy is also an important sign, being present in more than 40% of cases. [symptoma.com]
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 [emedicine.com]
Her urticaria was triggered by cooler temperatures and an ice cube test for cold induced urticaria was positive. In spite of aggressive therapies this patient remains symptomatic. [doi.org]
From Wikidata Jump to navigation Jump to search Human disease Schnitzler syndrome (disorder) Chronic urticaria with macroglobulinemia Chronic urticaria with gammopathy Chronic urticaria with gammapathy edit English Schnitzler syndrome Human disease Schnitzler [wikidata.org]
Epidemiology of urticaria in Spain. J Investig Allergol Clin Immunol. 2004; 14(3):214-20. PubMedGoogle Scholar Ferrer M. Epidemiology, healthcare, resources, use and clinical features of different types of urticaria. Alergologica 2005. [haematologica.org]
- Bone Pain
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. [emedicine.com]
Schnitzler syndrome Other names Schnitzler's syndrome Specialty Immunology Schnitzler syndrome or Schnitzler's syndrome is a rare disease characterised by onset around middle age of chronic hives (urticaria) and periodic fever, bone pain and joint pain [en.wikipedia.org]
Schnitzler syndrome encompasses monoclonal gammopathy, urticaria, inflammation, recurrent fever, bone pain and arthralgia, with occasional lymphadenopathy and/or hepatosplenomegaly. [ncbi.nlm.nih.gov]
Schnitzler syndrome - tense, generalized chronic urticaria, joint or bone pain, and monoclonal gammopathy of kappa type. [medical-dictionary.thefreedictionary.com]
Main observations: A 43-year-old woman presented to an allergy and immunology clinic with a 7 year history of chronic urticaria, angioedema with anaphylaxis, monoclonal gammopathy and bone pain. [doi.org]
It is characterized by the presentation of a monoclonal band, especially IgM, as well as fever, asthenia and arthralgia. [ncbi.nlm.nih.gov]
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. [emedicine.com]
Schnitzler syndrome with cold-induced urticaria Abstract Background: Schnitzler syndrome encompasses monoclonal gammopathy, urticaria, inflammation, recurrent fever, bone pain and arthralgia, with occasional lymphadenopathy and/or hepatosplenomegaly. [doi.org]
Presenting signs and symptoms are an urticarial rash, intermittent fevers, myalgia, arthralgia, bone pain, lymphadenopathy, and peripheral neuropathy. [symptoma.com]
Additionally, patients with SS may see multiple providers for nonspecific complaints of fever, lymphadenopathy, arthralgias, and bone pain. [jddonline.com]
Face, Head & Neck
A high index of suspicion is necessary in order to make the diagnosis of Schnitzler syndrome . A thorough history should be obtained first, during which the onset of symptoms (particularly the rash and relapses of fever), their progression, as well as severity must be covered. The physical examination can only confirm the nonspecific findings, which is why laboratory studies are the crucial step in the workup. A complete blood count (CBC) will show anemia and leukocytosis with neutrophilia in a significant number of patients, whereas basic inflammatory parameters will reveal elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)  . The detection of an IgM kappa chain raises solid evidence toward Schnitzler syndrome (the presence of IgG is also reported but in very few patients), although their levels may be paradoxically low at the time of diagnosis    . Skin biopsy and subsequent histopathological examination is an equally important diagnostic tool, showing a neutrophilic infiltrate in a significant portion of tested patients . Bone marrow biopsy could be recommended in some cases.
This treatment controls the condition but does not cure it. [en.wikipedia.org]
Anakinra allows a complete control of all signs within hours after the first injection, but patients need continuous treatment with daily injections. [scienceopen.com]
Treatment Many treatments used in the Schnitzler syndrome are summarized in Table 2. [ncbi.nlm.nih.gov]
Prognosis The life span in patients with Schnitzler syndrome has not been shown to differ much from the general population. Careful follow-up is advised, however. [dictionnaire.sensagent.leparisien.fr]
Schnitzler syndrome has a favourable prognosis in term of mortality with a survival rate of 94% after 15 years. [flipper.diff.org]
Prognosis The overall prognosis depends on the development of lymphoproliferative complications such as lymphoma, IgM myeloma or Waldenström's disease (see these terms). [orpha.net]
Prognosis Most Schnitzler syndrome patients have a chronic benign course. No spontaneous complete remissions have been reported. Overall, the prognosis for Schnitzler syndrome is good. [emedicine.medscape.com]
Our objectives are to systematically review disease characteristics of Schnitzler syndrome and collect follow-up information to gain insight into treatment efficacy and long-term prognosis. [ncbi.nlm.nih.gov]
The etiology of Schnitzler syndrome is unclear, but the rapid response to the interleukin-1 receptor inhibitor anakinra underlines the pivotal role which the proinflammatory cytokine interleukin-1 may play in the pathophysiology of this potentially autoinflammatory [ncbi.nlm.nih.gov]
Laboratory tests confirmed acute kidney injury (serum creatinine [sCr] 4.4mg/dL) with hypocomplementemia (low C3 and C4) for which no etiology was found. [revistanefrologia.com]
Etiology Etiology remains unclear but the syndrome is probably an acquired auto-inflammatory disorder. It shares many features with genetically determined auto-inflammatory diseases. [orpha.net]
Although the etiology of the syndrome is unknown, current evidence suggests this is an autoinflammatory syndrome. Recognition of this syndrome is critical since it is highly responsive to anakinra. [dovepress.com]
Summary Epidemiology Prevalence is unknown and about 150 cases have been reported, primarily in Europe. Clinical description There is a slight male predominance and mean age of disease onset is 51 years. Time to diagnosis often exceeds 5 years. [orpha.net]
AA amyloidosis has also been reported in people with Schnitzler syndrome. The life span in patients with Schnitzler syndrome has not been shown to differ much from the general population. Epidemiology It is a rare condition; as of September [en.wikipedia.org]
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Disturbances in mitochondrial function have also been reported.  Epidemiology United States Only a few cases of Schnitzler syndrome have been reported from the United States. [emedicine.medscape.com]
Medical condition: Treatment and prevention of gout flares in patients with frequent flares and for whom NSAIDs and/or colchicine are contraindicated, not tolerated or ineffective Disease: Version SOC Term Classification Code Term Level 12.0 10018627 [clinicaltrialsregister.eu]
The mannitol reduces vitreous volume and could prevent iris strangulation. YAG laser iridotomy performed one day prior to PKP was shown to prevent UZS. Intraoperative Some steps are needed to be taken during surgery to prevent the occurrence of UZS. [eyewiki.aao.org]
We hope that early treatment may prevent development of complications of CAPS such as deafness and eye damage. [ucl.ac.uk]
It investigates links to lifestyle and presents research on how the suppression of proinflammatory pathways may provide opportunities for both prevention and treatment of chronic diseases. [books.google.com]
When given at the start of an attack, the effect is dramatic, as the attack is usually completely prevented. There is some evidence that tonsillectomy can cure this syndrome, especially in children with persistently enlarged tonsils. [amyloidosis.org.uk]
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- De Koning HD. Schnitzler’s syndrome: lessons from 281 cases. Clin Transl Allergy. 2014;4:41.
- Lipsker D. The Schnitzler syndrome. Orphanet J Rare Dis. 2010;5:38.
- Simon A, Asli B, Braun-Falco M, et al. Schnitzler's syndrome: diagnosis, treatment, and follow-up. Allergy. 2013;68(5):562-568.
- Gouveia AI, Micaelo M, Pierdomenico F, Freitas JP. Schnitzler Syndrome: A Dramatic Response to Anakinra. Dermatol Ther (Heidelb). 2016;6(2):299-302.
- Kurian A, Lee JK, Vadas P. Schnitzler syndrome with cold-induced urticaria. J Dermatol Case Rep. 2010;4(4):50-53.
- Sokumbi O, Drage LA, Peters MS. Clinical and histopathologic review of Schnitzler syndrome: the Mayo Clinic experience (1972-2011). J Am Acad Dermatol. 2012;67(6):1289-1295.