Hypereosinophilia syndromes are several multisystem disorders that are relatively rare. They are characterized by the presence of eosinophilia in the peripheral blood over a period of more than six months. Alternatively, bone markosinophilia is also possible, the cause of which cannot be proven. In addition, severe organ dysfunction is seen in association with eosinophilic tissue infiltrates. In many cases, the hypereosinophilia syndrome is also referred to by the abbreviation HES. Synonyms for the condition include eosinophilic reticulosis or eosinophilic leukemoid.
What is hypereosinophilia syndrome?
According to Definion, hypereosinophilia syndrome is characterized by an increase in eosinophilic granulocytes, which are located in the peripheral blood, over a period of more than six months. The proliferation of granulocytes extends to the bone marrow. This results in organ dysfunction. Basically, hypereosinophilia syndrome is a very rarely occurring disease, the causes of which are still mostly unexplained according to the current state of medical research. The damage to the organs results primarily from a long-lasting eosinophilia of the blood as well as the bone marrow. The hypereosinophilia syndrome occurs with an estimated frequency of approximately one to nine cases per 100,000 persons. Men are nine times more likely to be affected by the disease than women. In the majority of cases, the disease appears between the ages of 20 and 50. In principle, different types of hypereosinophilia syndrome are distinguished, for example, idiopathic, familial, lymphocytic, or myeloproliferative HES.
Causes
The potential causes of hypereosinophilia syndrome are currently not fully understood. In some cases, affected patients show mutations on the so-called PDGFRA gene. This results in the formation of a fusion gene, which disrupts the maturation of myeloid cells. In addition, there is another theory about possible causes for the development of the hypereosinophilia syndrome. A specific interleukin is produced in increased amounts, leading to the expansion of a population of so-called T lymphocytes. The potential causes have been investigated by molecular biology and can only be determined in this way. The damage to organs that occurs in the hypereosinophilia syndrome results primarily from various toxic substances that are associated with the eosinophil granulocytes. These substances cause fibrosis, thrombi, and infarction of organs to occur.
Symptoms, complaints, and signs
The typical symptoms and complaints that may occur in hypereosinophilia syndrome have a wide range. They vary considerably depending on the patient, the manifestation, and the severity of the disease. On the one hand, there are individuals in whom the disease shows no symptoms at all. On the other hand, some patients are affected by severe to life-threatening symptoms of hypereosinophilia syndrome. In these, for example, restrictive changes in the lungs are possible. In the majority of cases, hypereosinophilia syndrome causes symptoms related to the heart, skin, and nervous system. In addition, the disease often presents with general symptoms such as fever, weight loss and loss of appetite. The possible symptoms on the skin are varied. Affected patients sometimes suffer from reddened nodules, pruritus, papulovesicles or angioedema. Rarely, erythroderma develops. In individual cases, digital necrosis and the so-called Raynaud’s syndrome have also been observed in the context of the hypereosinophilia syndrome. If the heart is involved in the disease, there is usually eosinophilic endo- and myocarditis. In principle, cardiac impairment is the most common cause of death in hypereosinophilia syndrome. Endomyocardial necrosis and, in the further course, thrombotic changes occur. At a later stage, endomyocardial fibrosis is possible. In addition, hypereosinophilia syndrome results in cough, pulmonary infiltrates, and pleural effusions. In many cases, the intellectual performance of affected individuals decreases.
Diagnosis and course of the disease
With regard to the diagnosis of hypereosinophilia syndrome, a thorough medical history of the affected patient is first required. During this process, the treating physician discusses, among other things, possible previous diseases as well as the symptoms of the respective patient. This is followed by physical examinations and laboratory tests, such as blood and urine tests. In addition, a bone marrow puncture may be recommended to detect the proliferation of eosinophils. An echocardiogram provides information about possible involvement of the heart in the disease. In addition, the treating physician may consider performing a myocardial biopsy. As part of the differential diagnosis, parasitoses on the skin, Churg-Strauß syndrome, and eosinophil leukemia, for example, should be excluded.
Complications
Hypereosinophilia syndrome usually results in a number of different complaints and complications. In some cases, however, affected individuals do not suffer from symptoms, making diagnosis and thus early treatment of this disease very difficult. The affected person usually loses weight and suffers from a severe fever. In addition, there is a loss of appetite, from which malnutrition can further develop. This can have a negative effect on the general condition and on the internal organs. The skin is reddened and may be affected by itching. The affected person feels weak and weary and therefore no longer actively participates in social life. It is not uncommon for a severe cough to develop, which limits the patient’s performance and ability to cope with stress. Ordinary activities and sporting activities are also no longer possible without further ado. Treatment of the hypereosinophilia syndrome takes place with the help of medication. No further symptoms or complications occur. If treatment is started early, most symptoms can be eliminated without secondary damage, so that life expectancy is also not affected by hypereosinophilia syndrome.
When should you see a doctor?
A visit to the doctor is necessary as soon as breathing difficulties develop. If there is shortness of breath, interruptions in breathing, or difficult breathing, a doctor should be consulted. If there is a feeling of oxygen deprivation, fear of suffocation or hyperventilation, a doctor should be consulted. As soon as there is a worsening of breathing, a medical examination should be initiated immediately. Tachycardia, tightness in the chest or elevated blood pressure are warning signs of the organism that should be clarified. If the skin turns slightly bluish, if there is internal tension over a longer period of time or if irritability sets in, a doctor must be consulted. If there is a loss of appetite as well as severe weight loss, there is cause for concern. If food intake is refused for several days or weeks, there is a risk that the body is undersupplied. A visit to the doctor is necessary so that the cause of the complaints can be found and a life-threatening condition can be ruled out. If physical or sporting activities can no longer be carried out as usual, a check-up visit to a doctor is advisable. If a situation of overexertion develops unusually quickly or if the person concerned experiences a general feeling of malaise, a doctor should be consulted. If there is a diffuse feeling of illness or a loss of cognitive performance, a physician should clarify the symptoms.
Treatment and therapy
Therapeutic measures are taken depending on the severity and expression of the hypereosinophilia syndrome. In some cases, the agent imatinib is used; otherwise, various corticosteroids are available. PUVA therapy also seems to be an effective treatment method. Oral anticoagulation is recommended to prevent embolism. In principle, external therapy in hypereosinophilia syndrome is symptomatic.
Outlook and prognosis
The prognosis of hypereosinophilia syndrome is variable and often very difficult to assess. In many patients, the disease progresses without symptoms. Whether they develop long-term organ damage and which organs are then affected depends on many factors that have not yet been fully elucidated. In around 50 percent of cases, the disease is severe from the outset, and life-threatening complications can occur.The skin, nervous system, lungs or heart are often affected. These organs can be severely damaged by an increased incidence of thrombi, fibrosis and organ infarcts. In severe courses, life expectancy can only be increased by intensive therapy that reduces the number of eosinophil granulocytes in the blood. Treatment is the same as for leukemia, using chemotherapy. In addition, cortisone and other drugs are administered. At the same time, the damaged organs must also be treated. Especially if the heart is affected, it can be fatal in extreme cases. In very severe cases, a bone marrow transplant may be necessary. It is true that life expectancy can be increased by these intensive treatment measures. However, the quality of life is severely reduced. In addition to the severe health restrictions due to organ involvement, there are also unpleasant side effects of chemotherapy. Unfortunately, those affected are currently unable to lead a normal life. However, new agents with fewer side effects are being worked on.
Prevention
Effective measures for the prevention of hypereosinophilia syndrome are not known according to the current state of medical research. It is of even greater importance to consult an appropriate specialist immediately at the first characteristic signs and symptoms of the disease so that adequate treatment can be initiated quickly.
Follow-up care
No direct measures or options for follow-up care are available to the affected person in hypereosinophilia syndrome. As a rule, an early diagnosis is necessary in this case in order to alleviate the symptoms properly and permanently. Since hypereosinophilia syndrome is a hereditary disease, genetic counseling should be performed if the patient wishes to have children in order to prevent inheritance of the disease. In most cases, the disease is treated by taking medication. The person affected should ensure that the medication is taken correctly and regularly, and should also be aware of possible interactions. In the case of children, parents should also always check that the medication is being taken correctly. If there are any questions or uncertainties, a doctor should always be contacted or consulted first. In most cases, the support and help of friends and family is also necessary. This can also prevent psychological upsets or depression. If severe symptoms occur, a doctor must be consulted immediately. In the worst case, this can lead to premature death of the affected person, so that the life expectancy of the affected person is also reduced by this disease. A complete cure can often not be achieved in this case.
What you can do yourself
In hypereosinophilia syndrome, unfortunately, there are no particular options for self-help. Direct medical treatment is also not possible in many cases, so that only the individual complaints can be limited. In many cases, patients suffer from a severe loss of appetite. However, even in this case, regular intake of food and fluids should be ensured in order to avoid dehydration and various deficiency symptoms. If deficiency symptoms still occur, they can be combated with the help of supplements. Since hypereosinophilia syndrome can also lead to heart problems, the heart should not be unnecessarily stressed. Therefore, strenuous sports or activities should be avoided to prevent unnecessary strain on the circulation. Furthermore, patients should participate in regular examinations with various physicians to avoid complications. Skin complaints can be prevented and treated by the use of creams and ointments. Since throat discomfort can often occur, extreme temperatures should also be avoided. Cough or hoarseness can be treated with the usual home remedies.
