Ivemark symptom complex is a syndrome composed of various malformations. The condition is also known synonymously as Ivemark association or splenic agenesis syndrome in some cases. The disease is primarily characterized by the fact that affected individuals usually lack a spleen and also suffer from various defects of the heart.
What is Ivemark symptom complex?
Basically, Ivemark symptom complex occurs relatively rarely. The incidence is estimated to be about 1 in 40,000. The condition was first described by the physician Ivemark and subsequently named after him. Due to the fact that affected patients do not have a spleen and suffer from different types of heart defects, the syndrome is a so-called heterotaxy. In principle, the life expectancy of those suffering from Ivemark symptom complex tends to be lower than that of the average population. Ivemark symptom complex affects multiple organ systems of the human body. While the spleen is completely absent in some patients, it is underdeveloped in others affected. The heart is usually deformed, and other organs in the thoracic and abdominal regions are also abnormally located. In addition, it is possible that the individual clinical presentation of the disease varies greatly from patient to patient. Numerous affected children suffer from heart problems associated with a bluish discoloration of the skin. The reason for this blue discoloration is that the blood carries too little oxygen. If the Ivemark symptom complex occurs during childhood, it leads to life-threatening complications in numerous cases.
Causes
At the present time, the exact cause of Ivemark symptom complex is still mostly unclear. However, physicians and researchers assume that a genetic component is involved in the development of the disease. This is because various observations speak for an inheritance of the Ivemark symptom complex. On the one hand, a sporadic occurrence of the disease is possible, and on the other hand, familial accumulations of the Ivemark symptom complex are seen in some cases. Therefore, a hereditary cause of the disease is suggested. Furthermore, it is relevant that Ivemark symptom complex is usually counted among the so-called heterotaxias. This category of disorders involves disturbances in the lateral distribution of organs in the body (medical term lateralization). Various studies have shown that heterotaxies are caused in many cases by mutations on diverse gene segments.
Symptoms, complaints, and signs
The Ivemark symptom complex is characterized by diverse complaints and typical symptoms. However, each patient has an individual expression of symptomatology. The main symptom of the disease is usually the absence of the spleen. In some cases, the organ is present but shifted to the right or has an abnormal shape. It is possible, for example, that a person has multiple spleens that are smaller than normal and spread throughout the abdomen. In addition, various heart defects are typical of the Ivemark symptom complex. These often lead to a reduced life expectancy of the affected patients. For example, a so-called atrio-ventricular septal defect is possible. In some cases, the main arteries are transposed or a so-called truncus arteriosus communis is present. Other organs may also be affected by the deformities. For example, displacements of the gastrointestinal tract or a three-lobed lung on the left side are common. Occasionally, situs inversus is also seen.
Diagnosis and course of the disease
Ivemark symptom complex can be diagnosed in several ways. The treating physician selects the examination methods to be used in each individual case. First, a history is usually taken. The patient is asked to provide the physician with important information regarding symptoms, medical history, and any genetic predispositions. In the next step, the clinical appearance of the disease becomes the focus of the examination. Numerous examination methods are available for a reliable diagnosis. The absence or dysfunction of the spleen, for example, can be detected by blood tests.Defects in the heart can be determined by means of an echocardiogram. This is an imaging procedure that provides information about the localization, type and severity of the heart defects. In addition, it is possible to diagnose the Ivemark symptom complex prenatally by ultrasound examinations of the embryo. This can detect defects in the heart, for example.
Complications
Due to the Ivemark symptom complex, various complaints occur in the patient. Usually, affected individuals suffer from an absent spleen and heart complaints. In the worst case, the heart complaints can also lead to the death of the patient or significantly reduce the quality of life. In some cases, the spleen may also be present in the patient, but displaced in the body so that its function is limited. These complaints usually reduce the life expectancy of the affected person. It is not excluded that other organs are also affected by malformations or deformations, so that various complaints may occur. The diagnosis of this disease can usually be made directly after birth. Whether treatment is necessary, however, depends on the severity of the symptoms. In some cases, surgical interventions are necessary to solve the heart complaints. Due to the missing spleen, the affected person may have to take antibiotics more often. Likewise, there is a greater susceptibility to infections. These must then be treated with the help of medication. However, a causal treatment of this disease is not possible, so only the symptoms can be limited.
When should one go to the doctor?
Heart trouble, pain in the abdomen, and other typical signs of an Ivemark symptom complex should be quickly evaluated by a physician. The condition can be fatal if left untreated, and for this reason requires early diagnosis and treatment. Parents of children who are quickly exhausted or complain of pain should consult their pediatrician. This is particularly necessary if the complaints persist over a longer period of time and increase in intensity during the course of the disease. The disease is genetic and is therefore best diagnosed immediately after birth. Children with an Ivemark symptom complex should be examined regularly by a physician. Further visits to the doctor are necessary if new symptoms suddenly develop or the child shows signs of cardiac arrhythmia. If a heart attack is suspected, emergency medical services must be called immediately. Subsequently, a longer hospital stay is usually indicated. The support of a therapist is useful for parents and child, since the disease often takes a negative course.
Treatment and therapy
Many different options are available to treat the Ivemark symptom complex. The use of measures for therapy depends primarily on the individual symptomatology. It is usually necessary for several specialists from different disciplines to work together on a therapeutic concept for each affected patient. Treatment is therefore primarily interdisciplinary, for example in cooperation between surgeons, pediatricians and cardiologists. Cardiac defects may require surgical interventions that vary depending on the severity of the defect. Due to the absence or underactivity of the spleen, prophylactic therapy with antibiotics is often required. In this way, the risk of infections in sick children can be reduced. If infections do occur, they must be treated effectively to avoid complications.
Outlook and prognosis
The prognosis of Ivemark symptom complex depends on the severity of the individual expression of the disorder. Because the disorder arises because of a genetic disposition, there is no possibility of cure. Human genetics may not be altered due to legal requirements. Therefore, the focus of all therapeutic approaches is on alleviating the symptoms that have occurred. The patient’s quality of life should be improved and well-being promoted. The prognosis becomes less favorable if a heart defect is present. In severe cases, this can lead to the sudden death of the affected person. In addition, surgical interventions become necessary in most cases. These are associated with the usual risks and side effects.If the affected person suffers from deformities of other organs, the prospect of relief is also more difficult. It becomes more difficult to cope with everyday tasks. The affected person is susceptible to other diseases and infections. In a large number of patients, lifelong drug treatment is necessary to ensure adequate functioning of the organism. If the medication is discontinued on the patient’s own responsibility, health deteriorates within a short period of time. If secondary diseases or psychological stress occur, this complicates the treatment. There may be an additional decline in the quality of life and an increase in existing complaints. This must be taken into account when making an individual prognosis.
Prevention
At the present time, there are still no possibilities for prevention of the Ivemark symptom complex. This is because the causes for the development of the disease are largely unexplored.
Follow-up
In Ivemark symptom complex, the measures of an aftercare strongly depend on the exact manifestation of the disease, so that a general prediction is usually not possible in this case. However, the aftercare itself is very limited in many cases, so that the affected person is primarily dependent on a quick diagnosis and also on an early treatment. Self-cure usually cannot occur with the Ivemark symptom complex. Most patients are dependent on taking various medications for this disease, and in many cases antibiotics must also be taken. The affected person should pay attention to a regular intake and also to a correct dosage of the medication in order to properly alleviate the symptoms. It should also be noted that antibiotics should not be taken together with alcohol. Regular examinations by a doctor are necessary in order to monitor the condition of the affected person permanently and properly. In many cases, a healthy lifestyle with a healthy diet and sporting activities can also have a positive effect on the course of the disease. Possibly, this results in a reduced life expectancy of the affected person.
What you can do yourself
Ivemark symptom complex usually cannot be treated with self-help resources. Sufferers are always dependent on the help of doctors and surgical interventions for this disease. Due to the various malformations and deformities, affected individuals require intensive care. Especially the care by the parents or by friends and relatives can have a positive effect on the course of the disease. Psychological complaints or inferiority complexes can also possibly be solved through discussions with the family. Often, discussions with other affected persons can also be useful and contribute to a positive course of the disease. Since patients often suffer from heart problems due to the Ivemark symptom complex, regular check-ups with a cardiologist should take place in order to avoid possible complications. In case of infections or inflammations, immediate treatment with antibiotics is also necessary due to the weakened immune system. Further treatment and everyday life depend very much on the development or damage of the other organs. As a rule, however, those affected are dependent on the help of their family in their lives.