Evans syndrome

Other Names: Autoimmune hemolytic anemia and autoimmune thrombocytopenia; Evan syndrome 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).

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.

Inheritance

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. If there is a family history of Evans syndrome, we would recommend consulting with a genetics professional to discuss risks for family members.

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.

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). For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

100% of people have these symptoms

• Autoimmune hemolytic anemia
• Autoimmune thrombocytopenia

80%-99% of people have these symptoms

• Neutropenia in presence of anti-neutropil antibodies
• Petechiae

30%-79% of people have these symptoms

• Bruising susceptibility(Bruise easily)

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.

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. Most affected individuals respond to these treatments; however, relapse is frequent.

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. 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. Because the effectiveness varies and symptoms usually return, splenectomy is usually delayed or avoided as much as possible.

For cases that are very severe and difficult to treat, a stem cell transplant may be used to provide a long-term cure. Autologous and allogeneic stem cell transplantation have been used in a small number of patients with mixed results.

Prognosis

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.

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.People with Evans syndrome have a greater tendency to develop other autoimmune disorders such as systemic lupus erythematosus (SLE), lymphoproliferative disorders, or primary immunodeficiencies. Evans syndrome is sometimes fatal so careful monitoring by a physician who is familiar with this condition is important.

NIH genetic and rare disease info

• NIH info on Evans syndrome

Evans syndrome is a rare disease.

Evans syndrome Resources
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