Evans syndrome is an extremely rare autoimmune system disorder that has a prevalence of 1:1,000,000. Due to the fact that there are not yet sufficient case studies, medical professionals refer to individual cases – in the context of treatment.
What is Evans syndrome?
Evans syndrome is the name given to an extremely rare autoimmune disorder – of unclear etiology. In Evans syndrome, antibodies are formed that fight red blood cells as well as platelets. As a result, the immune cells are damaged or destroyed. Due to the fact that Evans syndrome is a very rare disease (the prevalence is about 1:1,000,000), there are very few studies and findings so far. However, medical experts believe that Evans syndrome occurs due to a genetic disorder. The syndrome was first described by R. T. Duane and R. S. Evans in 1949. However, it was R. S. Evans who wrote a more detailed documentation of the disorder in 1951. However, even though the syndrome has been known since 1949 and 1951, respectively, almost no results are available to date, so physicians do not know either the causes of Evans syndrome or the appropriate therapies.
Causes
So far, physicians do not know why Evans syndrome is triggered. In 50 percent of all cases, other diseases are sometimes partly responsible; in 50 percent, the cause is completely unknown. However, there is also no certainty that the following diseases trigger Evans syndrome; it has only been documented that Evans syndrome has already occurred with the following diseases. Autoimmune diseases in particular are a common combination, with Sjögren’s syndrome, systemic lupus erythematosus, and also antiphospholipid syndrome being prominent. However, infectious diseases such as influenza A, hepatitis viruses, Nocardia, the cytomegalovirus, varicella as well as the Epstein-Barr virus can probably trigger Evans syndrome. Tumor diseases (T-cell or B-cell non-Hodgkin’s lymphoma, monoclonal gammopathy of unclear significance, Kaposi’s sarcoma or chronic lymphocytic leukemia) as well as immunodeficiencies such as variable immunodeficiency syndrome (CVID) or selective immunoglobulin A deficiency could be the theoretical trigger of the syndrome. Dermatomyositis, Graves’ disease, ulcerative colitis, Castleman’s disease, bronchiolitis obliterans (BOOP), and Guillain-Barré syndrome, respectively, also represent theoretical triggers of Evans syndrome or have been documented-along with Evans syndrome.
Symptoms, complaints, and signs
Individuals affected by Evans syndrome predominantly complain of oxygen deprivation, which subsequently causes dizziness, increased breathing, or even headache. Sometimes the lack of oxygen can also cause heart failure. Another very characteristic symptom is severe bleeding, which is extremely difficult to control. This is because the platelets, which are needed for blood clotting, are destroyed.
Diagnosis and course
As a rule, the physician makes the diagnosis on the basis of laboratory values. For example, the erythrocyte sedimentation rate is enormously increased. Furthermore, the physician can recognize a settling of the erythrocytes in the so-called sedimentation tube. The hematocrit is also reduced and, subsequently, the lactate dehydrogenase is significantly elevated. I
n a few cases – instead of thrombocytopenia – the so-called neutropenia can also be observed. The Coombs test is positive. The course of the disease as well as the prognosis are predominantly negative. This is mainly because there are almost no study data on Evans syndrome so far. Many patients die due to uncontrollable bleeding or infections caused by the therapy. Mortality rates range from 8 percent to 40 percent; this means that – out of 100 patients – 8 to 40 people do not survive Evans syndrome (5-year progression).
Complications
Possible complications of Evans syndrome include anemia and the development of thrombosis. As a result of thrombocytopenia, in which the cells for blood clotting are destroyed, bleeding and severe circulatory problems may also occur. The bleeding typical of the syndrome is difficult to control and can lead to hemorrhage if left untreated.A lack of oxygen is also typical of the disease, which subsequently leads to headaches, dizziness and fatigue. In the long term, the lack of oxygen can lead to heart failure and other diseases of the cardiovascular system. In the treatment of Evans syndrome, the prescribed drugs (such as ciclosporin and danazol) can cause severe side effects and exacerbate the original symptoms. Infections may occur after bone marrow transplantation. In addition, hair loss, vision problems such as cataracts, and intolerance reactions may occur. Rarely, secondary diseases such as graft-versus-host disease also develop after a transplant, which in turn is associated with severe complications. As there is no standard therapy for this autoimmune disease, further complications are difficult to predict. If left untreated, Evans syndrome almost always leads to patient death.
When should you see a doctor?
If shortness of breath, severe bleeding, and other typical signs of Evans syndrome are noticed, a doctor should be consulted. Complications such as anemia or thrombosis require immediate hospital treatment. If severe bleeding occurs as a result of an accident or fall, the emergency physician must be called immediately. The affected person must then spend several days in the hospital. After the end of the treatment, regular control visits to the responsible physician are indicated. People with existing autoimmune diseases such as Sjöjgren’s syndrome or systemic lupus erythematosus are particularly at risk. Infectious diseases such as influenza A and hepatitis viruses as well as tumor diseases and immune defects are also typical triggers. Anyone affected by these diseases or belonging to the risk groups should consult their family doctor immediately with the symptoms mentioned at the beginning. Further contacts are the internist, the dermatologist or the specialist for autoimmune diseases. In case of serious complications, it is best to contact the emergency medical service or the affected person should be taken directly to the nearest clinic.
Treatment and therapy
Since the initial description of Evans syndrome in 1949 and 1951, the administration of glucocorticoids has been predominantly preferred. In doing so, the physician attempts to get the hematocrit above 30 percent or the hemoglobin level above 10 g/dL. However, if the physician does not observe any significant changes or improvements and relapses are documented, immunosuppressants or immunoglobulins may be administered to alleviate the symptoms and complaints. These include, for example, ciclosporin, danazol of vincristine. Even the so-called off-label application of Rituximab is possible and has already been successful (according to individual studies). Depending on the course of the disease, it may also be considered to remove the patient’s spleen. In the course of splenectomy, the bleeding tendency can thus be (symptomatically) treated; remission is observed in 20 percent to 40 percent of cases. By means of bone marrow transplantation, it is possible that recurrent or otherwise uncontrollable cases can be successfully treated. The physician is mainly concerned with the symptoms of Evans syndrome. This means that circulatory stabilizing measures are set, which on the one hand concern the coagulation factors, and on the other hand the erythrocyte concentrate is observed. However, it must be taken into account that all therapy recommendations, which are based on Evans syndrome, are only based on case series as well as individual case reports. Up to now, there are no controlled studies that clearly highlight which therapy actually achieved the greatest success. On the grounds that no definitive causes have yet been found to trigger Evans syndrome, only symptom-based therapy can be applied; this means that, strictly speaking, Evans syndrome is incurable.
Outlook and prognosis
Evans syndrome has no cure to date. The prognosis is poor because, to date, there is no way to treat the autoimmune disease causally. A large proportion of patients die from the condition within a few months or years. The prognosis is improved if Evans syndrome is detected at an early stage. Thus, an improvement of symptoms can be noticed in patients in infancy if the therapy is carried out constantly.The patient receives regular glucocorticoids as well as immunosuppressants such as vincristine or ciclosporin, which regulate the immune system and hemoglobin levels. Removal of the spleen can lead to improvement in 20 to 40 percent of cases. Patients are less likely to suffer from bleeding tendencies without the organ and also suffer fewer infections. The prognosis is worse in recurrent cases. Then often the only option left is a bone marrow transplant, which can be a great burden for the affected person. If the operation is successful, various complications and late effects can occur. Close medical monitoring is essential to detect and treat these health problems at an early stage. Thus, in Evans syndrome, the prognosis depends on various factors such as the patient’s age and the course of the autoimmune disease.
Prevention
To date, no actual causes are known that trigger Evans syndrome. For this reason, it is not possible for people to prevent the extremely rare disease.
Follow-up
In most cases of Evans syndrome, the options for follow-up care are very limited. In this case, the patient usually relies primarily on direct medical treatment by a physician for lasting and effective relief of symptoms. Those affected by Evans syndrome are dependent on taking medication. Care must be taken to ensure that the medication is taken correctly and, above all, regularly. In case of any uncertainties, a doctor should always be consulted in order to prevent further complaints. Furthermore, possible interactions or even side effects should also be considered and consulted with a doctor. In many cases, patients with Evans syndrome are also dependent on bone marrow transplantation. After such a surgical procedure, the affected person should always rest and take care of his body. Effort or stressful and athletic activities should always be refrained from in order not to strain the body unnecessarily. Since Evans syndrome can also lead to psychological upsets, intensive and loving care of the affected person has a positive effect on the further course of the disease. Contact with other patients of the disease can also be very useful in this regard.
What you can do yourself
The options for self-help are very limited for patients with Evans syndrome. Due to its rare occurrence, the disease has not been sufficiently researched and therefore offers hardly any approaches for alleviating the symptoms in everyday life. As a preventive measure against anemia, those affected can take self-help measures through their dietary intake. Sufficient intake of iron is particularly important. Foods such as pork liver, oysters, white beans, lentils, peas, chanterelles and beet contain particularly high levels of the trace element. If these foods are regularly included in meals, the proportion of iron in the blood increases. In addition, grapefruits can be consumed, as this food removes heavy metals from the organism, which have an inhibiting effect on the utilization of iron. Basically, a balanced and healthy diet is important for the patient. Fats and harmful substances should be avoided. Smoking or the consumption of alcohol should be avoided. An adequate supply of oxygen and regular walks in the fresh air help to improve well-being. Mental stability is particularly important in dealing with the disease in everyday life. Conversations with relatives and friends or digital exchange with other sufferers are helpful. For the reduction of emotional stress, relaxation methods can additionally be used.
