National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Schnitzler syndrome


Other Names:
Chronic urticaria with gammapathy; Chronic urticaria with macroglobulinemia; Chronic urticaria with gammopathy
Categories:
Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.[1][2][3]
Last updated: 8/30/2015
The signs and symptoms of Schnitzler syndrome vary but may include:[1][2][3]
  • Red raised patches of skin (urticaria) that may become itchy
  • Recurrent fevers
  • Join pain and inflammation
  • Organomegaly (enlarged internal organs) often involving the lymph nodes, liver and/or spleen
  • Bone pain
  • Blood abnormalities
  • Muscle aches
  • Fatigue
  • Weight loss

People affected by Schnitzler syndrome also have an increased risk of developing certain lymphoproliferative disorders.[2]
Last updated: 8/27/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Bone pain 0002653
Fever 0001945
Hepatomegaly
Enlarged liver
0002240
Increased bone mineral density
Increased bone density
0011001
Increased circulating IgM level 0003496
Macule
Flat, discolored area of skin
0012733
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Papule 0200034
Skin rash 0000988
Splenomegaly
Increased spleen size
0001744
Urticaria
Hives
0001025
30%-79% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Fatigue
Tired
Tiredness
[ more ] 		0012378
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] 		0001974
5%-29% of people have these symptoms
Lymphadenopathy
Swollen lymph nodes
0002716
Lymphoma
Cancer of lymphatic system
0002665
Peripheral neuropathy 0009830
Pruritus
Itching
Itchy skin
Skin itching
[ more ] 		0000989
Vasculitis
Inflammation of blood vessel
0002633
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Last updated: 7/1/2020
The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome.[1][2]

Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune system cells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.[2][3][1]
Last updated: 8/27/2015
A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other conditions that cause similar features.[1][2]

Medscape Reference's Web site offers more specific information on the diagnosis of Schnitzler syndrome. Please click on the link to access this resource.
Last updated: 8/27/2015
The treatment of Schnitzler syndrome is aimed at alleviating the signs and symptoms associated with the condition. The following medications have been used with variable success:[1][2][3]
Some studies suggest that phototherapy may improve the rash in some affected people.[1][2]

Medscape Reference and the National Organization for Rare Disorders both offer additional information regarding the treatment and management of Schnitzler syndrome. Please click on the links to access these resources.
Last updated: 8/28/2015
The long-term outlook (prognosis) for people with Schnitzler syndrome is generally good. Although the condition is chronic and symptoms can be a nuisance, it generally does not progress to severe disease in most affected people. However, approximately 10-15% of people with Schnitzler syndrome develop a lymphoproliferative disorder.[1][3]
Last updated: 8/30/2015

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes adult-onset Still's disease, hypocomplementic urticarial vasculitis, cryoglobulinemia, hyper IgD syndrome, and acquired C1 inhibitor deficiency (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Schnitzler syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • The Autoimmune Registry supports research for Schnitzler syndrome by collecting information about patients with this and other autoimmune diseases. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Schnitzler syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Joel G DeKoven, MD, MHSc, FRCPC. Schnitzler Syndrome. Medscape Reference. April 2014; http://emedicine.medscape.com/article/1050761-overview.
  2. Schnitzler Syndrome. National Organization for Rare Disorders. 2015; http://rarediseases.org/rare-diseases/schnitzler-syndrome/.
  3. Paul Jarrett, MD. Schnitzler syndrome. DermNet NZ. May 2015; http://www.dermnetnz.org/systemic/schnitzler.html.