What are the other Names for this Condition? (Also known as/Synonyms)

• Chronic Urticaria with Gammapathy
• Chronic Urticaria with Gammopathy
• Chronic Urticaria with Macroglobulinemia

What is Schnitzler Syndrome? (Definition/Background Information)

• Schnitzler Syndrome is an extremely uncommon autoinflammatory condition, with only about 150 reported cases in the medical literature
• It is believed to be an acquired disorder; the exact cause of Schnitzler Syndrome is not known at the present time
• The signs and symptoms of the condition may include rashes resembling hives, intermittent fevers, bone pain, joint pain, swollen lymph nodes, and enlarged spleen
• Owing to the variation in the signs and symptoms of affected individuals, the diagnosis of Schnitzler Syndrome may take several years
• The treatment for Schnitzler Syndrome is geared toward relief from symptoms. In the majority of cases, the disorder is manageable with a favorable prognosis. Note the hematologic malignancy issue discussed below

Who gets Schnitzler Syndrome? (Age and Sex Distribution)

• Schnitzler Syndrome is a very rare condition; only about 300 cases have been currently recorded in medical literature. However, scientists believe that the condition may be under-reported owing to the time it takes to diagnose this disorder. The condition is predominantly reported from Europe
• Although both genders are affected, males are marginally more prone to the condition than females
• In most cases, Schnitzler Syndrome are observed in individuals well into their 50s; while, some studies have reported younger adults and children being affected as well

What are the Risk Factors for Schnitzler Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Schnitzler Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Schnitzler Syndrome? (Etiology)

• The cause of Schnitzler Syndrome is not clearly known at the present time. It is believed to be an acquired auto-inflammatory disorder, in which an abnormality in the immune system leads to repeated episodes of inflammation
• Those affected by Schnitzler Syndrome often exhibit elevated levels of immunoglobulin M or IgM (monoclonal IgM gammopathy). A type of white blood cells involved in destroying pathogens produces IgM proteins. Some scientists believe that increased levels of IgM in the skin and other body parts may lead to the characteristic signs and symptoms of the disorder
• In addition, some studies suggest that abnormalities in interleukin-1 (IL-1), also a protein secreted by the immune system that modulates an individual’s immune response, may play an important role in the development of Schnitzler Syndrome in some individuals

An auto-inflammatory disorder is different from an autoimmune disorder. Although both involve the immune system, the latter is characterized by immune cells or antibodies destroying one’s own healthy cells.

What are the Signs and Symptoms of Schnitzler Syndrome?

The signs and symptoms of Schnitzler Syndrome may vary in type and severity among affected individuals and include:

• Presence of skin rashes that resembling hives (urticaria), observed as raised patches of skin
• The rashes may be itchy
• Recurrent fevers
• Muscle aches and tiredness
• Swelling and pain in joints
• Bone pain
• Enlarged lymph nodes
• Enlarged spleen (splenomegaly)
• Enlarged liver (hepatomegaly)
• Abnormalities in blood proteins
• Weight loss

How is Schnitzler Syndrome Diagnosed?

Schnitzler Syndrome is diagnosed on the basis of the following information:

• Complete physical examination and a thorough evaluation of an affected individual’s medical history
• Assessment of signs and symptoms
• Blood tests
• Imaging studies
• Biopsy of affected tissue, if necessary
• Differential diagnosis to check for or rule out other conditions that may present with signs and symptoms similar to Schnitzler Syndrome

The diagnosis of Schnitzler Syndrome may take longer than 5 years, owing to the rarity of the disorder as well as huge variations in the types and severity of signs and symptoms.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Schnitzler Syndrome?

The complications of Schnitzler Syndrome may include:

• Extreme tiredness owing to recurrent fevers
• Cosmetic concerns due to urticaria
• Increased risk of developing lymphoproliferative disorders such as lymphoma and IgM myeloma (also known as Waldenstrom’s disease); about 1 in 7-10 individuals may develop lymphoproliferative disorders

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Schnitzler Syndrome Treated?

The treatment of Schnitzler Syndrome is geared toward addressing the signs and symptoms associated with the condition. The treatment methods may include:

• Administration of medications such as:
  • Non-steroidal anti-inflammatory drugs (NSAIDs) and corticosteroids
  • Immunosuppressive agents
  • Interleukin-1 receptor antagonists (medications that inhibit cytokine IL-1)
  • Interleukin !-beta-blocking antibodies
  • Colchicine
  • Antibiotics such as dapsone
  • Thalidomide
  • Rituximab
• Light therapy or phototherapy

How can Schnitzler Syndrome be Prevented?

• The cause of Schnitzler Syndrome is not clearly known. Thus, at the present time, there are no known methods or guidelines for the prevention of this disorder
• Active research is being performed to explore the possibilities for the treatment and prevention of such acquired auto-inflammatory disorders

What is the Prognosis of Schnitzler Syndrome? (Outcomes/Resolutions)

• In a majority of cases, the prognosis of Schnitzler Syndrome is generally good
• However, if complications, such as lymphoma or Waldenstrom’s disease develop, the outcome is determined by the severity of the complications

Additional and Relevant Useful Information for Schnitzler Syndrome:

• Schnitzler Syndrome was first described in the medical literature in 1972, by a French dermatologist named Liliane Schnitzler.
• Most of the reported cases of Schnitzler Syndrome have been from Europe, particularly France. Some cases have been reported from Australia, Japan, and the United States too

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/