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It is the presence of simultaneous simultaneous or sequential autoimmune hemolytic anemia together with immune-mediated thrombocytopenia , without a known underlying cause.
Although the evans syndrome appears to be a disorder of immune regulation , the exact pathophysiology is unknown and the etiology is unclear. The typical clinical course is chronic and recurrent, and the treatment is usually progressive and of poor prognosis.
Causes
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 the foreign invaders for eventual destruction by the white blood cells.
Immune system disorders such as 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. The disorders that may be associated with Evans syndrome include:
- Autoimmune lymphoproliferative syndrome.
- Lupus.
- Antiphospholipid syndrome.
- Sjogren’s Syndrome .
- Common variable immunodeficiency.
- IgA deficiency.
- Certain lymphomas.
- Chronic lymphocytic leukemia.
Signs and symptoms
The manifestations of Evans syndrome may include the following, in descending order of frequency:
- Thrombocytopenia .
- Anemia.
- Neutropenia.
- Pancytopenia
Signs of thrombocytopenia include petechiae and ecchymosis.
Signs of anemia include paleness, fatigue and lightheadedness. The jaundice may indicate hemolysis .
Complications
Possible complications of Evans syndrome include the following:
- Hemorrhage with severe thrombocytopenia.
- Severe infection in patients with neutropenia.
Diagnosis
Laboratory studies that may be considered include the following:
- Complete blood count (CBC).
- Reticulocyte count.
- Coombs test (direct antiglobulin test).
- Tests for antineutrophil and antiplatelet antibodies.
- Lupus antibodies (lupus inhibitor) and antinuclear antibodies (ANA).
- Measurement of serum immunoglobulins.
- Flow cytometry of blood samples.
- Studies of genetic mutations.
Bone marrow aspiration helps reveal aplastic anemia or an infiltrative disorder. In general, it is indicated to exclude infiltrative processes in patients who present pancytopenia.
Is there a cure for Evans syndrome?
While there is no cure for Evans syndrome, there are many methods used to control symptoms. For some people, treatment can lead to long periods of remission in which the signs and symptoms of Evans syndrome are milder or disappear.
Treatment
The best treatment options for Evans syndrome depend on many factors, including the severity of the condition; the signs and symptoms present; and the response of each person to certain therapies.
Medical therapy is the pillar of management. In patients admitted for severe anemia or thrombocytopenia, the following are indicated:
- Stabilization of respiratory and cardiovascular functions.
- Transfusion of blood products, if necessary.
- Pharmacological therapy.
The agents commonly used are the following:
- Prednisone (the most used first-line agent).
- Intravenous immunoglobulin (IVIG, for those with persistent immune cytopenia and those who require prolonged or high doses of steroids).
Other pharmacological therapies that have been tried include the following:
- Danazol.
- Cyclosporine .
- Azatioprina.
- Cyclophosphamide
- Vincristina.
- Rituximab.
- Alemtuzumab.
Additional therapies have included the following:
- Splenectomy
- Autologous and allogeneic stem cell transplantation.
Is Evans syndrome hereditary?
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 some cases in the medical literature that describe the “family Evans syndrome”.
Most family cases involve siblings who have Evans syndrome. Some of these cases were additionally associated with other symptoms, such as heart defects and other disorders known to be inherited, such as hereditary spastic paraplegia .
If there is a family history of Evans syndrome, we recommend consulting a genetic professional to analyze the risks for family members.
