EGS stands for Erdheim-Gsell syndrome. The term Erdheim-Gsell syndrome includes a pathological change in the middle vessel wall (media) of the large arteries, mainly the aorta. The disease syndrome, usually referred to as idiopathic, leads to a breakdown of the smooth muscles and elastic fibers in the media. The elasticity of the media, which has changed in its elasticity, increases the risk of life-threatening aortic dissection, especially in the ascending branch of the aorta and in the aortic arch, which can lead to aneurysm dissecans, hemorrhage and aneurysm formation between the inner and outer layer of the vessel wall.
What is Erdheim-Gsell Syndrome?
The term Erdheim-Gesell syndrome or cystic or mucoid median necrosis Erdheim-Gsell describes a degenerative change in the media that affects the large arteries, especially the aorta. In the course of the disease, the smooth muscle fibers and elastic fibers in the media, the middle layer of the arterial vessel walls, break down.
The breakdown of the elastic fibers corresponds to an elastolysis and the breakdown of the smooth muscle cells usually takes place via apoptosis, the programmed cell death. The breakdown mechanism of the cells therefore does not correspond to the picture of necrosis. In the course of the disease, the physical behavior of the media – and with it the affected artery itself – changes.
The elasticity decreases sharply and the media can no longer actively react to signals to narrow or expand because the corresponding smooth muscle cells are no longer available. This has a particularly serious effect in the ascending branch of the aorta and in the aortic arch, because the vessel walls in these sections of the aorta are exposed to particularly high elasticity requirements in order to fulfill their air pocket function.
The cause of the Erdheim-Gsell syndrome has not yet been conclusively clarified, so that the disease is often referred to as idiopathic cystic median necrosis. The name addition idiopathic is of Greek origin and means something like “own” or “out of itself” and is used synonymously with the adjective essential in medicine. Idiopathic always means that the causes of the disease are not (yet) sufficiently known.
Some evidence suggests that genetic causes could play a role, such as in Marfan’s syndrome, under which certain hereditary connective tissue diseases are summarized. So far, several chromosome regions have been identified which have an influence on the nature of the media and which are responsible for the breakdown of elastic fibers and for the incorporation of mucopolysaccharide-like deposits.
Other diseases such as hypothyroidism, hypercortisolism or long-term high blood pressure can also play a role. Hypercortisolism is an acquired disease caused by too long and too intense treatment with cortisone.
Symptoms, ailments & signs
Typical signs and symptoms that can point to the Erdheim-Gsell syndrome are severe to very severe pain in the chest immediately behind the breastbone (sternum). The chest pain is usually accompanied by unspecific symptoms such as malaise, vomiting and agitation.
In cases where there are signs of shock and the chest pain is radiating to the back, it is very likely that a dissection aneurysm has already formed in the aorta and requires immediate treatment. Further symptoms arise due to the secondary damage caused by the bleeding into the media with the simultaneous formation of a life-threatening aneurysm.
Diagnosis & course of disease
The Erdheim-Gsell syndrome causes hardly any symptoms in the initial stage, so that the disease at this stage was discovered by chance during the investigation of certain complaints that are not necessarily related to the Erdheim-Gsell syndrome. Symptoms only arise when the disease has progressed so far that the breakdown of muscle fibers and elastic fibers and the incorporation of mucopolysaccharides into the media result in dissections in the aorta.
Aortic dissection can be diagnosed using transesophageal echocardiography (TEE). Other diagnostic imaging methods such as CT and MRT, however, allow more differentiated and more precise statements. If left untreated, an aortic dissection usually develops into a life-threatening aneurysm if a tear forms in the inner vessel wall, the intima, through which blood can flow into the media.
When should you go to the doctor?
A general malaise in the organism that occurs suddenly and for no apparent reason should be clarified by a doctor. If you experience symptoms such as vomiting, nausea or general weakness, there is cause for concern. Consult a doctor as soon as symptoms persist for several days or weeks. In many cases, the symptoms appear gradually over a longer period of time. Contact with a doctor should be established if the person concerned perceives a reduction in performance or a decrease in well-being. Restlessness or sleep disorders should be investigated and treated.
If there are disturbances in concentration, a diffuse feeling of anxiety or attention problems, a doctor’s visit is necessary. Particular caution should be exercised if there is an internal feeling of pressure or pain in the chest. A visit to a doctor is advisable to clarify the cause. If the pain spreads to the back or the front of the body, a doctor should perform a medical examination. Life-threatening conditions threaten, which should be presented to a doctor in good time. If there are bruises or discoloration of the skin in the chest area, you will need to see a doctor. If movements of the upper body can no longer be carried out as usual, it is advisable to consult a doctor.
Treatment & Therapy
A treatment that aims directly at curing Erdheim-Gesell syndrome does not exist. This is due to the fact that the connections between the causal factors are not sufficiently understood and genetic factors are likely to be the causative agents. Treatment is therefore only considered if acute problems arise, such as with an aortic dissection.
In the ascending area of the aorta and in the aortic arch there are several important arterial branches that can be relocated by the dissection or are literally sheared off. For certain organs and body regions, the poor blood supply can result in serious or life-threatening situations without aneurysms having already formed. If aortic dissection is diagnosed without any acute danger, drug therapy is primarily aimed at lowering blood pressure.
It is important to reduce the systolic values below 140 mmHg in order to minimize the risk of an aneurysm. The main therapeutic measures available are vascular surgery, with the help of which – mostly using the heart-lung machine – vascular prostheses are inserted and torn or torn arteries are made mechanically functional again.
Outlook & forecast
In the worst case scenario, Erdheim-Gsell syndrome can lead to death. For this reason, patients are always dependent on medical treatment in order to avoid further damage and complications. Without treatment, the disease is usually fatal and leads to a significantly reduced life expectancy for the patient.
Those affected suffer from severe chest pain as well as vomiting and a general feeling of illness. Also anxiety often occur, and reduce the quality of life of patients significantly. Many of those affected therefore also suffer from mental disorders. There is more bleeding and severe pain in the back. In severe cases, the Erdheim-Gsell syndrome can also lead to shock, in which the patient loses consciousness and can injure himself again if he falls.
An early diagnosis and treatment of Erdheim-Gsell syndrome has a very positive effect on the further course of the disease in any case. With the help of medication, blood pressure can be lowered. However, most sufferers also need surgery to cure the disease completely.
There are no preventive measures that could minimize the risk of developing Erdheim-Gsell syndrome, because the disease may be multifactorial and the connections that ultimately trigger Erdheim-Gsell syndrome are not (yet) adequately understood. The most important preventive measures could be to have the aorta examined by ultrasound from time to time, if further cases of Erdheim-Gsell syndrome are known within the own family.
With Erdheim-Gsell syndrome, there are usually no special follow-up options available to those affected. The patient is primarily dependent on direct medical treatment of the disease in order to prevent further complications. In the worst case, if left untreated, the affected person can also die, as heart failure usually occurs.
For this reason, an early diagnosis of Erdheim-Gsell syndrome is very important. In most cases, those affected with this disease are dependent on an operation. The patient must always rest after such an operation and take care of his body. In doing so, strenuous activities or other stressful or sporting activities are to be avoided.
Strict bed rest is to be observed in order to accelerate the healing of Erdheim-Gsell syndrome. Most patients also need medication to lower their blood pressure. These should be taken regularly and in the right amount. In case of doubt, a doctor should always be consulted. Even after a successful procedure, regular examinations by a doctor are necessary so that the symptoms of Erdheim-Gsell syndrome do not recur.
You can do that yourself
There is no alternative to conventional medicine for sick people to alleviate the symptoms of Erdheim-Gsell syndrome. The self-help measures are limited to a special duty of care with regard to one’s own physical and emotional needs.
Patients with Erdheim-Gsell syndrome should protect themselves from overexertion and overload. Physical activities are to be adapted to the requirements and specifications of the organism. Immediate action is required as soon as the blood pressure rises. Relaxation techniques, rest and rest help to lower blood pressure. Patients who regularly use methods such as yoga, meditation, or autogenic trainingapply, experience a stress reduction and an increase in inner serenity. Balance and harmony strengthen the feeling of health and have a positive influence on the cardiovascular system. Music, hobbies or playing singing bowls are also helpful in order to improve well-being and to find an inner balance with everyday demands.
In everyday life, confrontations that are perceived as emotionally stressful should be avoided as far as possible. Optimizing your own behavior, de-escalating your behavior, and developing various strategies to deal with conflicts are particularly helpful. Cognitive training and the search for clarifying conversations can be used in problem solving. In addition, to relieve the cardiac activity, it should be ensured that the body weight is within the normal range of the BMI.