Evans Syndrome

Diseases of the blood Haemolytic Anaemias

Evans Syndrome

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information on this disease, please refer to Genetic and Rare Diseases (GARD) Information Center: Evans syndrome.1

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.

Emergency Management

There may be special considerations for the emergency management of individuals living with Evans syndrome presenting to emergency departments.

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

Clinical Care Guidelines

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.

Below are consensus guidelines for immune thrombocytopenia (ITP):

Synonyms

Autoimmune hemolytic anemia and autoimmune thrombocytopenia; Immune pancytopenia

ORPHA:1959

ICD-11: 3A20.5 Evans syndrome

Summary

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

Useful Links for Professionals

Orphanet: Evans syndrome

Symptoms

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.

Cause/Inheritance

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

Diagnosis

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 Differential diagnosis (to rule out other conditions) includes 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.

Treatment

There is no overall curative treatment for Evans syndrome.2 Treatment is targeted at the specific symptoms and may depend on factors such as severity and presence of other existing conditions (co-morbidities).5 The treatment pathways for primary and secondary Evans syndrome may differ.2,4,5

Treatment of Evans syndrome may involve a multidisciplinary medical team.2 The first-line treatment for Evans syndrome often involves the use of corticosteroids to suppress the immune system.2-5 Intravenous immunoglobulin (IVIG) may also be used, particularly for individuals with ITP symptoms.4,5 Other types of immunosuppressive drugs may be used as second-line treatment for individuals who are or become resistant to steroids (steroid-refractory) or relapsing cases.3-5

It is best to speak with your medical team to learn more about possible treatments for Evans syndrome and to determine suitability of treatment. Treatment will depend on an individual’s specific symptoms and complications.

Clinical Care

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.

Research

Please visit Australian Clinical Trials to learn about clinical trials for Evans syndrome in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for Evans syndrome in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

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

Rare Disease Organisation(s)

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.

Organisations supporting Immune thrombocytopenia (ITP)
ITP Australia Ltd
Website: https://itpaustralia.org.au/
Contact form: https://itpaustralia.org.au/contact/

The mission at ITP Australia Ltd is to provide carers and patients of ITP in Australia with up-to-date and Australian-relevant information. ITP Australia Ltd also work with other international charities and organisations to build the awareness of ITP within Australia.

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

Support Services/Resources

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.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information on Evans syndrome can be found at:

References
  1. Genetic and Rare Diseases (GARD) Information Center. Evans syndrome. Accessed 17 June 2024. https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome
  2. National Organization for Rare Disorders (NORD). Evans syndrome. Accessed 17 June 2024. https://rarediseases.org/rare-diseases/evans-syndrome/
  3. Evans syndrome. Accessed 17 June 2024. https://www.orpha.net/en/disease/detail/1959
  4. Jaime-Pérez JC, Aguilar-Calderón PE, Salazar-Cavazos L, Gómez-Almaguer D. Evans syndrome: clinical perspectives, biological insights and treatment modalities. J. Blood Med. 2018; 9: 171-184. https://doi.org/10.2147/JBM.S176144
  5. Shaikh H, Mewawalla P. Evans Syndrome. Updated 12 June 2023. In: StatsPearl [internet]. Treasure Island (FL): StatPearls Publishing. 2024-Jan. Accessed 18 June 2024. https://www.ncbi.nlm.nih.gov/books/NBK519015/
  6. Audia S, Grienay N, Mounier M, Michel M, Bonnotte B. Evans’syndrome: From diagnosis to treatment. J. Clin. Med. 2020; 9(12):3851. https://doi.org/10.3390/jcm9123851
Page Last Updated

18/06/2024 20:54