Rare Nephrology News

Disease Profile

Evans syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Childhood

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ICD-10

D69.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Autoimmune hemolytic anemia and autoimmune thrombocytopenia; Evan syndrome

Categories

Autoimmune / Autoinflammatory diseases; Blood Diseases

Summary

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]

Symptoms

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]

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.

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

Cause

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]

Diagnosis

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]

Treatment

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]

Organizations

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

      Learn more

      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.

          References

          1. Mathew P. Evans Syndrome. Medscape Reference. April 11, 2016; https://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. https://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. https://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. https://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 . https://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. https://bloodjournal.hematologylibrary.org/content/114/15/3167.full. Accessed 9/22/2011.

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