Evans syndrome is an autoimmune blood disorder in which the body’s immune system produces antibodies that attack its own red blood cells, white blood cells and platelets.^1,2 This results in abnormal destruction (haemolysis) of red blood cells (autoimmune hemolytic anemia, AIHA) and low levels of platelets (immune thrombocytopenia, ITP), which can occur at the same time (simultaneously) or one after another (sequentially).^2,3 There may also be neutropenia, a condition where there is low levels of a type of white blood cell called neutrophils.

Evans syndrome can affect both children and adults.³ The symptoms and severity varies widely between individuals, and there is the risk of life-threatening complications.^2,4

Evans syndrome can present by itself (primary/idiopathic Evans syndrome) but is also observed to occur with other conditions (secondary Evans syndrome) such as other autoimmune disorders and cancers involving blood cells (haematologic malignancies). The treatment pathways for primary and secondary Evans syndrome may differ.^2,4,5

Synonyms: autoimmune hemolytic anemia and autoimmune thrombocytopenia, immune pancytopenia.¹

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:1959 Evans syndrome

ICD-11: 3A20.5 Evans syndrome

The symptoms and severity of Evans syndrome can vary widely between individuals.^2,3 Individuals with Evans syndrome have autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP), which can present at the same time or at different times.

The signs and symptoms of AIHA include weakness, fatigue, pale skin colour (pallor), rapid heartbeat (tachycardia), shortness of breath (dyspnea), dark urine, and yellowing of skin and eyes (jaundice).^2,3 There may also be enlargement of the spleen (splenomegaly).

ITP may cause bleeding under the skin which can appear as small red or purple spots on the skin (petechiae), red purple patches (purpura) or large bruises (ecchymoses).^2,3 There may also be bleeding at the mucous membranes. In severe cases, there may be blood in the urine (hematuria) and severe bleeding that can be life-threatening.²

Please speak to your medical team to learn more about the symptoms and complications of Evans syndrome.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Evans syndrome is an autoimmune condition in which the body’s immune system produces antibodies that attack its own red blood cells, white blood cells and platelets. These are known as autoantibodies. The cause of the autoimmune condition is unknown.^1,3

There is no specific conclusive diagnostic test for Evans syndrome.² Diagnosis of Evans syndrome may be made based on clinical examination (including medical history) and by excluding other possible diagnoses.^2,3

Blood tests may be performed to detect for low levels of haemoglobin (indicative of anaemia), platelets (indicative of thrombocytopenia) and neutrophil (indicative of neutropenia).^2,3 Further tests may be done to look for haemolysis of red blood cells and a direct antiglobulin test (DAT) to detect autoantibodies against the red blood cells.

A diagnosis of Evans syndrome may be made if an individual has both autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP), which can occur simultaneously or sequentially, and other diagnoses have been excluded.^2,3 A differential diagnosis can rule out other conditions with similar symptoms, such as thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome, paroxysmal nocturnal haemoglobinuria, vitamin deficiencies, infectious causes, other autoimmune conditions, myelodysplastic syndromes and other malignancies, and specific conditions like HELLP if occurring during pregnancy.^2,4,6

Please speak to your medical team to find out more about the diagnostic pathways for Evans syndrome.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of Evans syndrome may include general practitioners (GP), paediatricians, haematologists, immunologists and rheumatologists.^1,2 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

We are not aware of any clinical care guidelines specifically for Evans syndrome in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• Diagnosis and management of Evans syndrome in adults: first consensus recommendations was published in 2024, by haematologists experts from six different countries.

Below are consensus guidelines for immune thrombocytopenia (ITP):

• Consensus guidelines for the management of adult immune thrombocytopenia in Australia and New Zealand were presented by members of the Thrombosis and Haemostasis Society of Australia and New Zealand (THANZ) and endorsed by the THANZ Council and ITP Australia; this was first published in 2021 and updated in 2024.
• American Society of Hematology 2019 guidelines for immune thrombocytopenia include recommendations for management of adults and children with ITP.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider the following when managing individuals living with Evans syndrome at emergency departments/services:

• there may be life-threatening complications associated with Evans syndrome.²

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

There are currently no known organisations specifically for Evans Syndrome in Australia. If you are aware of any organisations supporting Evans Syndrome in Australia, please let us know via the Contribute page.

Australian Organisation supporting Immune thrombocytopenia (ITP):

ITP Australia and New Zealand
Website: https://itpaustralia.org.au/

The mission of ITP Australia and New Zealand is to provide up-to-date information, support and advocacy for the ITP patient community.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Evans syndrome vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Evans syndrome can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Evans syndrome
• National Organization for Rare Disorders (NORD): Evans syndrome

• Orphanet: Evans syndrome
• Online Mendelian Inheritance in Man, OMIM^®: #601608 Spastic Paraplegia and Evans syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.