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Evans syndrome

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Other Names:
Autoimmune hemolytic anemia and autoimmune thrombocytopenia; Evan syndrome
Categories:
Evans syndrome is a very rare autoimmune disorder in which the immune system destroys the body's red blood cells, white blood cells and/or platelets. Affected people often experience thrombocytopenia (too few platelets) and Coombs' positive hemolytic anemia (premature destruction of red blood cells). Signs and symptoms may include purpura, paleness, fatigue, and light-headedness. The exact cause of this condition is unknown. The best treatment options for Evans syndrome depend on many factors, including the severity of the condition; the signs and symptoms present; and each person's response to certain therapies.[1][2]
Last updated: 5/18/2016
The signs and symptoms of Evans syndrome vary from person to person and largely depend on which type(s) of blood cells are affected (i.e. red blood cells, platelets, and/or white blood cells). If a person does not have enough healthy red blood cells (anemia), they may experience weakness, fatigue, paleness, light-headedness, shortness of breath, or rapid heartbeat. Low platelets (thrombocytopenia) can cause easy or unexplained bruising; red or purple spots on the skin (petechiae); prolonged bleeding from small cuts; and purpura. People with a low white blood cell count (neutropenia) may be more susceptible to infections, and may experience symptoms such as fever or sores inside the mouth.[2]

Many people with Evans syndrome go through periods of remission in which the signs and symptoms of the condition temporarily disappear or become less severe (usually induced temporarily by treatment).[2]
Last updated: 7/11/2018

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.

Showing of 13 |
Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Autoimmune hemolytic anemia 0001890
Autoimmune thrombocytopenia 0001973
80%-99% of people have these symptoms
Neutropenia in presence of anti-neutropil antibodies 0001904
Petechiae 0000967
30%-79% of people have these symptoms
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Dyspnea
Trouble breathing
0002094
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Fatigue
Tired
Tiredness
[ more ] 		0012378
Jaundice
Yellow skin
Yellowing of the skin
[ more ] 		0000952
Lethargy 0001254
Muscle weakness
Muscular weakness
0001324
Pallor 0000980
5%-29% of people have these symptoms
Syncope
Fainting spell
0001279
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Last updated: 7/1/2020
The exact cause of Evans syndrome is not known; however, it is known that Evans syndrome is a disorder of the immune system. The immune system is a network of cells, tissues, and organs that work together to defend the body against germs (foreign substances). The immune system normally responds to foreign substances by producing specialized proteins, called antibodies, that target foreign invaders for eventual destruction by white blood cells. Disorders of the immune system like Evans syndrome occur when the immune system produces antibodies that mistakenly attack healthy tissue, specifically red blood cells, platelets, and white blood cells.

Evans syndrome may occur in combination with another disorder as a secondary condition. Disorders that can be associated with Evans syndrome include but are not limited to: autoimmune lymphoproliferative syndrome (ALPS), lupus, antiphospholipid syndrome, Sjogren syndrome, common variable immunodeficiency, IgA deficiency, certain lymphomas, and chronic lymphocytic leukemia.[1][2]
Last updated: 7/28/2016
While Evans syndrome is not thought to be inherited in most cases and rarely occurs in more than one person in a family, there are a few cases in the medical literature describing "familial Evans syndrome." The majority of familial cases involve siblings that are found to have Evans syndrome. Some of these cases were additionally associated with other symptoms, such as heart defects as well as other disorders that are known to be inherited, such as hereditary spastic paraplegia.[3][4][5]

If there is a family history of Evans syndrome, we would recommend consulting with a genetics professional to discuss risks for family members. 
Last updated: 7/28/2016
Evans syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with Coombs-positive hemolytic anemia and thrombocytopenia related to an abnormal immune response once other conditions with similar signs and symptoms have been ruled out. Various blood tests, and in some cases a bone marrow aspiration, may be needed to exclude other conditions.[2]
Last updated: 11/17/2014
Treatment for Evans syndrome depends on many factors, including the severity of the condition; the signs and symptoms present; and each person's response to certain therapies. For example, people who need to be hospitalized due to severe anemia or thrombocytopenia are often treated with blood transfusions followed by therapy with corticosteroids or intravenous (IV) immune globulin. Other treatment options include immunosuppressive drugs.[1] Most affected individuals respond to these treatments; however, relapse is frequent.[6]

In people who do not respond to standard treatments, therapy with rituximab may be considered. Some people with Evans syndrome respond well to rituximab treatment and experience an extended period of remission, while others have little to no response.[6]

The role of splenectomy in treating Evans syndrome is not clearly established. While splenectomy may lead to immediate improvement, relapses are common and usually occur within 1-2 months after the procedure. However, occasionally it may result in long-term remission, and there is some evidence that it may help to reduce the frequency of relapses.[7] Because the effectiveness varies and symptoms usually return, splenectomy is usually delayed or avoided as much as possible.[2]
 
For cases that are very severe and difficult to treat, a stem cell transplant may be used to provide a long-term cure.[6] Autologous and allogeneic stem cell transplantation have been used in a small number of patients with mixed results.[1]
Last updated: 7/11/2018
The long-term outlook for people with Evans syndrome can vary. Some affected people may experience periods of long remission in which the signs and symptoms of the condition disappear or become less severe. Others have chronic problems with no remissions.[8]

Those with Evans syndrome rarely do well without treatment. Even with treatment, response to therapy can be variable and often disappointing. Recurrences of thrombocytopenia and anemia are common, as are episodes of hemorrhage (bleeding) and serious infections.[1] People with Evans syndrome have a greater tendency to develop other autoimmune disorders such as systemic lupus erythematosus (SLE), lymphoproliferative disorders, or primary immunodeficiencies.[8][9] Evans syndrome is sometimes fatal so careful monitoring by a physician who is familiar with this condition is important.[1]
Last updated: 11/16/2014

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 mainly includes microangiopathies such as thrombotic thrombocytopenic purpura, and typical or atypical hemolytic uremic syndrome (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 Evans 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 Evans 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.

Social Networking Websites

  • Visit the Evans Syndrome Foundation, Inc group on Facebook.
  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Organizations Providing General Support

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

  • 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 Evans 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. Submit a new question

  • Could Evans syndrome be inherited? Is Evans syndrome contagious? Is Evans syndrome curable? See answer

  • I was first diagnosed with idiopathic thrombocytopenic purpura, which then progressed to Evans syndrome. I had a splenectomy and have since been in remission. My husband and I have been together for 10 years, and in this time I have not conceived. Can Evans syndrome cause infertility? If I do get pregnant, would there be a chance my child could have the same condition? See answer

  • I have been recently diagnosed with Evans syndrome. Can you provide me with information about this condition, including treatment options and mortality rates? See answer


  1. Mathew P. Evans Syndrome. Medscape Reference. April 11, 2016; http://emedicine.medscape.com/article/955266-overview.
  2. Bussel B. Evans Syndrome. National Organization for Rare Disorders (NORD). 2013; https://rarediseases.org/rare-diseases/evans-syndrome/.
  3. Ahmed FE, Albakrah MS. Neonatal familial Evans syndrome associated with joint hypermobility and mitral valve regurgitation in three siblings in a Saudi Arab family.. Ann Saudi Med. May 2009; 29(3):227-230. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813659/.
  4. Ahmed FE, Qureshi IM, Wooldridge MA, Pejaver RK.. Hereditary spastic paraplegia and Evans's syndrome. Acta Paediatr. July 1996; 85(7):879-881. http://www.ncbi.nlm.nih.gov/pubmed/8819560.
  5. McLeod AG, Pai M, Carter RF, Squire J, Barr RD.. Familial Evans syndrome: a report of an affected sibship.. J Pediatr Hematol Oncol.. May-June 1999; 21(3):244-247. http://www.ncbi.nlm.nih.gov/pubmed/10363860.
  6. Norton A, Roberts I. Management of Evans syndrome. Br J Hematol. January 2006; 132(2):125-137. http://www.ncbi.nlm.nih.gov/pubmed/16398647?dopt=AbstractPlus.
  7. Jaime-Perez JC, Guerra-Leal LN, Lopez-Razo ON, Mendez-Ramirez N, Gomez-Almaguer D. Experience with Evans syndrome in an academic referral center. Rev Bras Hematol Hemoter. July-August, 2015; 37(4):230-235. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519700/.
  8. What is Evans Syndrome?. Evans Syndrome Research and Support . http://www.evanssyndrome.org/#evans. Accessed 9/21/2011.
  9. Michel M, Chanet V, Dechartres A, et al. The spectrum of Evans syndrome in adults: new insight into the disease based on the analysis of 68 cases. Blood. October 2009; 114(15):3167-3172. http://bloodjournal.hematologylibrary.org/content/114/15/3167.full. Accessed 9/22/2011.