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Genetic and Rare Diseases Information Center (GARD)

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Evans syndrome


Other Names for this Disease
  • Autoimmune hemolytic anemia and autoimmune thrombocytopenia
  • Evan syndrome
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Your Question

My child has been diagnosed with Evans syndrome. What options are available for treatment of this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Evans syndrome?

Evans syndrome is a very rare autoimmune disorder in which the body makes antibodies that destroy the red blood cells, platelets and white blood cells. Affected individuals usually experience thrombocytopenia (too few platelets) and Coombs' positive hemolytic anemia (premature destruction of red blood cells).  People with Evans syndrome may have low levels of all three types of blood cells at one time, or may only have problems with one or two of them. The exact cause of this condition is unknown.[1]
Last updated: 9/21/2011

What are the signs and symptoms of Evans syndrome?

The signs and symptoms of Evans syndrome vary from person to person and largely depend on which blood cells are affected (i.e. platelets, white blood cells, or red blood cells). People with Evans syndrome may have problems with one, two or all three of these different blood cells. If there is a decrease in the number of mature red blood cells, people typically experience anemia, which results in weakness, fatigue, and shortness of breath. With low platelets, affected individuals are susceptible to bleeding and major bruising from minor bumps and cuts. A bump on the head can cause severe brain hemorrhage (bleeding) and even death. With low white blood cells, a person has increased susceptibility to infections and difficulty in fighting these infections.[1]
Last updated: 9/22/2011

What causes Evans syndrome and can it be inherited?

The specific cause of Evans syndrome is unknown and it has been speculated that for every case, the cause may be different. No genetic causes for Evans syndrome have been identified, and familial occurrence of Evans syndrome is rare.[1][2]
Last updated: 9/22/2011

How might Evans syndrome be treated?

Evans syndrome is generally considered to be a chronic condition because it is characterized by periods of exacerbation and remission. Initial attempts to treat this condition usually involve corticosteroids and/or intravenous immunoglobulin. Most affected individuals respond to these treatments; however, relapse is frequent.[3]

Other options for treatment include immunosuppressive drugs, especially cyclosporine or mycophenolate mofetil; vincristine; danazol or a combination of these medications. Treatment with danazol induces remission in the majority of cases, although remission often lasts less than 12 months and the long-term effects are unclear. Splenectomy may also be considered, although benefits are often short-lived.[3]

Rituximab is another medication used when affected individuals have not responded to other forms of therapy. Some individuals with Evans syndrome have responded well to rituximab treatment and experienced an extended period of remission; however others have had little to no response. The complications associated with the use of rituxumab have been limited in studies performed to date.[2]

For cases that are very severe and difficult to treat, stem cell transplantation (SCT) may be used to provide a long-term cure. There is some data that suggests allogeneic SCT may be superior to autologous SCT, but both carry serious risks. Reports have also indicated that using a regimen called "reduced-intensity conditioning" may be beneficial in individuals who receive bone marrow transplantation.[3]

Last updated: 9/22/2011

What is the prognosis for individuals with Evans syndrome?

Those with Evans syndrome rarely do well without treatment. Even with treatment, the signs and symptoms have periods of remission and exacerbation, with variable and often disappointing responses to therapy. Recurrences of thrombocytopenia and anemia are common, as are episodes of hemorrhage (bleeding) and serious infections.[2] It has also been reported that individuals with Evans syndrome have a greater tendency to develop other autoimmune disorders such as systemic lupus erythematosus (SLE), lymphoproliferative disorders, or primary immunodeficiencies.[1][4] Evans syndrome sometimes is fatal.[2] Thus, affected individuals should be carefully monitored by a physician that is familiar with this condition.[1]
Last updated: 9/22/2011

Who can I contact to learn more about the management of Evans syndrome?

The Evans Syndrome Research and Support Group was founded with the purpose of locating families affected by Evans syndrome, gathering information about the disease, and offering support. Over the years they have identified many physicians who are knowledgeable about the management of Evans syndrome. You can access a listing of these physicians at the following link or by contacting the organization directly.
http://www.evanssyndrome.org/esphysicians.htm

Evans Syndrome Support and Research Group
1376 Presidential Highway
Jefferson, NH 03583
Fax: (603) 586-7983
Web: http://www.evanssyndrome.org/
Last updated: 2/6/2009

References