Evans Syndrome

Evans syndrome is an autoimmune disorder in which antibodies attack red blood cells (RBC), which deliver oxygen to body tissues, platelets (which help blood clot), and/or neutrophils (a type of white blood cell). The disorder resembles a combination of autoimmune hemolytic anemia (the destruction of young red blood cells), thrombocytopenia (too few platelets), and neutropenia (too few neutrophils). These may occur simultaneously or one may follow the other.

There is no known genetic cause of Evans syndrome, and occurrences in families are rare. It is considered a chronic disease, with periods of remission and exacerbation. Thrombocytopenia recurs in about 60 percent of patients, while autoimmune hemolytic anemia (AIHA) recurs in about 30 percent.

The symptoms of Evans syndrome may be similar in nature to leukemia and lymphoma; these illnesses must be ruled out before a diagnosis is made.

If a child has a low red blood cell (RBC) count, symptoms may include:

• Jaundice
• Dark brown urine
• Pale skin
• Weakness
• Fatigue
• Shortness of breath

If a child has a low platelet count, symptoms may include:

• Increased bruising
• Petechia: tiny red dots under the skin that are a result of very small bleeds into the skin
• Increased bleeding symptoms, such as a bloody nose or heavy menses

If a child has a low neutrophil count, symptoms may include:

• Fevers
• Mouth sores
• Increased bacterial infections

The current cause for Evans syndrome is unknown.

Doctors diagnose Evans syndrome with a variety of blood tests, including:

• Complete blood count
• Coombs test: a blood test that identifies the cause of anemia
• Reticulocyte count: a blood test that measures how fast new red blood cells called reticulocytes are made by bone marrow and released into the blood

Other tests may include bone marrow aspiration and biopsy and flow cytometry, a technique for identifying and sorting cells by staining with a fluorescent dye. After all tests are completed, doctors will be able to outline the best treatment options.

The first-line treatments for Evans syndrome are corticosteroid, such as prednisone, and intravenous immunoglobulin, which help to control acute episodes. Most children respond to this treatment, but relapses frequently occur. Other treatments include:

• Immunosuppressive drugs, such as 6-mercaptopurine and mycophenolate mofetil
• Removal of the spleen to improve blood counts, which may be short-lived
• Rituximab, a monoclonal antibody
• Stem cell transplant, for severe, difficult-to-treat cases, and the best chance for a long-term cure

For children with Evans syndrome, recurrences of thrombocytopenia, anemia, and also neutropenia are common. It can sometimes remain well controlled on long-term immunosuppressant therapy, and occasionally patients have spontaneous complete resolution of the condition.

Children with Evans syndrome are treated at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Our Blood Disorders Center provides comprehensive diagnostic, treatment, and preventive services for a wide range of non-malignant blood disorders, including Evans syndrome. Your child will receive care from some of the world’s most experienced hematologists.