The Evans syndrome is an extremely rare disease of the autoimmune system, which has a prevalence of 1: 1,000,000. Due to the fact that there are not yet sufficient case studies, doctors refer to individual cases as part of the treatment.
What is Evans Syndrome?
According to aviationopedia.com, Evans syndrome is an extremely rare autoimmune disease, although the genesis of it is unclear. In Evans syndrome, antibodies are formed that fight red blood cells and platelets. Subsequently, the immune cells are then damaged or destroyed. Due to the fact that Evans syndrome is a very rare disease (the prevalence is around 1 in 1,000,000), there are so far very few studies and findings.
However, doctors assume that Evans syndrome occurs due to a genetic disorder. The syndrome was first described by RT Duane and RS Evans in 1949. However, it was RS Evans who wrote a more detailed documentation of the disease in 1951. But even if the syndrome has been known since 1949 and 1951, almost no results are available so far, so that doctors neither know the reasons for Evans syndrome and which therapies are suitable.
So far, doctors do not know why Evans syndrome is triggered. Other illnesses are partly responsible for 50 percent of all cases; 50 percent of the cause is completely unknown. However, there is also no certainty that the following diseases trigger Evans syndrome; it was only documented that Evans syndrome with the following diseases has already occurred.
Autoimmune diseases in particular are a frequent combination, with Sjögren’s syndrome, systemic lupus erythematosus and also the antiphospholipid syndrome in the foreground. However, infectious diseases such as influenza A, hepatitis viruses, Nocardia, the cytomegalovirus, varicella and the Epstein-Barr virus can probably trigger Evans syndrome.
Tumor diseases (T-Tell or B-cell non-Hodgkin lymphomas, monoclonal gammopathy of an unclear significance, Kaposi’s sarcoma or chronic lymphatic leukemia) as well as immune defects such as variable immunodeficiency syndrome (CVID) or selective immunoglobulin A -Deficiency could be the theoretical trigger of the syndrome.
Also dermatomyositis, Grave’s disease, ulcerative colitis, Castleman’s disease, bronchiolitis obliterans (BOOP) and the Guillain-Barre Syndrome provide theoretical trigger of Evans syndrome are or were – documented – together with the Evans syndrome.
Symptoms, ailments & signs
People affected by Evans syndrome mainly complain of a lack of oxygen, which subsequently causes dizziness, increased breathing or headaches. Sometimes the lack of oxygen can also trigger heart failure. Another very characteristic symptom is profuse bleeding that is extremely difficult to control. This is because the platelets, which are required for blood clotting, are destroyed.
Diagnosis & course
As a rule, the doctor makes the diagnosis on the basis of the laboratory values. For example, the sedimentation rate is increased enormously. In addition, the doctor can detect a sedimentation of the erythrocytes in the so-called sedimentation tube. The hematocrit is also reduced or, as a result, the lactate dehydrogenase is significantly increased. I.
In a few cases, so-called neutropenia can also be observed instead of thrombocytopenia. The Coombs test is positive. The course of the disease and the prognosis are predominantly negative. This is mainly because there are almost no study data on Evans syndrome to date.
Many patients die due to the bleeding that cannot be controlled or from infections that can be triggered by the therapy. The mortality figures are 8 percent to 40 percent; this means that – out of 100 patients – 8 to 40 people do not survive Evans syndrome (5-year course).
Possible complications in Evans syndrome include anemia and the development of thrombosis. As a result of thrombocytopenia, in which the cells for blood clotting are destroyed, it can also lead to bleeding and severe circulatory disorders. The bleeding typical of the syndrome is difficult to control and, if left untreated, can lead to bleeding.
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 serious side effects and exacerbate the original symptoms.
Infections can occur after a bone marrow transplant. It can also lead to hair loss, visual disturbances such as cataracts and intolerance reactions. After a transplant, secondary diseases such as graft versus host disease, which in turn are associated with serious complications, rarely develop. Since there is currently no standardized therapy for the autoimmune disease, further complications are difficult to foresee. If left untreated, Evans syndrome almost always results in the death of the patient.
When should you go to the doctor?
If breathlessness, heavy 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 heavy bleeding occurs as a result of an accident or a fall, the emergency doctor must be called immediately.
The person concerned then has to spend a few days in the hospital. After the end of treatment, regular check-ups with the responsible doctor 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 typical triggers. Anyone who is affected by these diseases or belongs to the risk groups should consult their family doctor immediately with the symptoms mentioned above. Other contact persons are the internist, the dermatologist or the specialist for autoimmune diseases. In the event of serious complications, it is best to contact the emergency medical service or to take the person affected directly to the nearest clinic.
Treatment & Therapy
Since Evans syndrome was first described in 1949 and 1951, the administration of glucocorticoids has been preferred. The doctor tries to get the hematocrit to over 30 percent or to increase the hemoglobin level to over 10 g / dl. However, if the doctor does not observe any significant changes or improvements and relapses are documented, immunosuppressants or immunoglobulins can also be administered to alleviate the symptoms and complaints.
These include cyclosporine, danazol of vincristine. Even the so-called off-label use of rituximab is possible and has already been successful (according to individual studies). Depending on the course of the disease, consideration may also be given to removing the patient’s spleen. As part of the splenectomy, the bleeding tendency can be treated (symptomatically); remission is observed 20 percent to 40 percent of the time.
With bone marrow transplantation it is possible that recurrent cases or cases that cannot be otherwise controlled can be treated successfully. The doctor mainly deals with the symptoms of Evans syndrome. This means that circulatory stabilizing measures are taken, which on the one hand affect the coagulation factors, on the other hand the red blood cell concentrate is monitored.
However, it must be taken into account that all therapy recommendations that are available in the context of Evans syndrome are based only on case series and individual case reports. So far there have been no controlled studies that sometimes clearly highlight which therapy actually achieved the greatest success.
Due to the fact that so far no definitive causes that trigger Evans syndrome have been found, only symptom-related therapy can be used; this means that Evans syndrome is strictly speaking incurable.
Outlook & forecast
There is currently no cure for Evans syndrome. The prognosis is poor because there is currently no way of treating the cause of the autoimmune disease. A large proportion of patients die from the disease within a few months or years. The prognosis is improved if Evans syndrome is detected early. For example, an improvement in symptoms can be noticed in infancy patients if the therapy is carried out consistently.
The patient regularly receives glucocorticoids and immunosuppressants such as vincristine or ciclosporine, which regulate the immune system and the hemoglobin level. Removing the spleen can improve symptoms in 20 to 40 percent of cases. Without the organ, patients are less prone to bleeding and suffer fewer infections.
The prognosis is worse in recurrent cases. Then there is often only the option of a bone marrow transplant, which can be a great burden for the person concerned. If the procedure is successful, various complications and long-term consequences can occur. Close medical monitoring is essential in order to identify and treat these health problems at an early stage. The prognosis for Evans syndrome depends on various factors such as the age of the patient and the course of the autoimmune disease.
So far, no actual causes are known that trigger Evans syndrome. Because of this, it is not possible for people to be able to prevent the extremely rare disease.
In most cases of Evans syndrome, the options for follow-up care are very limited. As a rule, the patient is primarily dependent on direct medical treatment by a doctor in order to alleviate the symptoms permanently and effectively. Those affected with Evans syndrome are dependent on taking medication.
It is important to ensure that the medication is taken correctly and, above all, regularly. If anything is unclear, a doctor should always be consulted to prevent further complaints. Furthermore, possible interactions or side effects should also be taken into account and consulted with a doctor. In many cases, patients with Evans syndrome also rely on bone marrow transplants.
After such a surgical procedure, the person affected should always rest and take care of their body. Exertion or stressful and sporting activities should always be avoided in order not to strain the body unnecessarily. Since Evans syndrome can also lead to psychological upset, intensive and loving care of the person concerned has a positive effect on the further course of the disease. Contact with other patients with the disease can also be very useful.
You can do that yourself
Self-help opportunities are very limited in patients with Evans syndrome. The disease has not been adequately researched due to its rare occurrence 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 food intake. Sufficient iron intake is particularly important. Food such as pork liver, oysters, white beans, lentils, peas, chanterelles and beetroot contain a particularly large amount of the trace element.
If these foods are regularly included in meals, the level of iron in the blood increases. Grapefruits can also be consumed, as this food removes heavy metals from the body, which have an inhibiting effect on the utilization of iron.
Basically, a balanced and healthy diet is important for the patient. Fats and pollutants should be avoided. Do not smoke or consume alcohol. Adequate oxygen supply and regular walks in the fresh air help improve wellbeing.
Mental stability is particularly important when dealing with the disease in everyday life. Conversations with family members and friends or digital exchange with other sick people are helpful. Relaxation procedures can also be used to relieve emotional stress.