The term Erdheim-Gsell syndrome encompasses a pathological change in the middle vessel wall (media) of the large arteries, mainly the aorta. Usually described as idiopathic, the disease syndrome results in a breakdown of smooth muscle and elastic fibers in the media. The altered elasticity of the media 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, a hemorrhage and aneurysm formation between the inner and outer vessel wall layers.
What is Erdheim-Gsell syndrome?
The term Erdheim-Gesell syndrome or cystic or mucoid medianecrosis Erdheim-Gsell is used to describe a degenerative change in the media that affects the large arteries, especially the aorta. As the disease progresses, there is a breakdown of smooth muscle fibers and elastic fibers in the media, the middle layer of the arterial vessel walls. The degradation of elastic fibers corresponds to elastolysis and the degradation of smooth muscle cells usually occurs via apoptosis, programmed cell death. Thus, the degradation mechanism of the cells does not correspond to the picture of necrosis. In the course of the disease, the media – and thus the affected artery itself – changes in its physical behavior. Elasticity decreases sharply and the media can no longer actively respond to signals to constrict or dilate because the corresponding smooth muscle cells are no longer present. This has a particularly serious effect in the ascending branch of the aorta and in the aortic arch, because the vessel walls in these portions of the aorta are subjected to particularly strong elasticity requirements to fulfill their windkessel function.
Causes
The causation of Erdheim-Gsell syndrome has not been conclusively determined, so the disease is often referred to as idiopathic cystic median necrosis. The epithet idiopathic is of Greek origin and means something like “own” or “of itself” and is used in medicine synonymously with the adjective essential. Idiopathic always means that the causes of the disease are not (yet) sufficiently known. Some evidence suggests that genetic causes may play a role, as in Marfan syndrome, under which certain hereditary connective tissue diseases are grouped. So far, several chromosomal regions have been identified that influence the nature of the media and are responsible for the degradation of elastic fibers and for the incorporation of mucopolysaccharide-like deposits. Other diseases such as hypothyroidism, hypercortisolism, or prolonged hypertension may also play a role. Hypercortisolism is an acquired disease caused by too long and too intensive treatment with cortisone.
Symptoms, complaints, and signs
Typical signs and symptoms that may indicate Erdheim-Gsell syndrome are severe to very severe chest pain just behind the breastbone (sternum). The chest pain is usually accompanied by nonspecific symptoms such as malaise, vomiting, and restlessness. In cases where signs of shock are also evident and the chest pain radiates to the back, a dissecting aneurysm has most likely already formed in the aorta and requires immediate treatment. Other symptoms result from secondary damage caused by hemorrhage into the media with concomitant formation of a life-threatening aneurysm.
Diagnosis and course of the disease
Erdheim-Gsell syndrome causes few symptoms in the early stages, so the disease tends to be discovered incidentally at this stage in the course of investigating certain complaints that need not be related to Erdheim-Gsell syndrome. Complaints do not occur until the disease has progressed to the point where dissections in the aorta result from the breakdown of muscle fibers and elastic fibers and the incorporation of mucopolysaccharides into the media. Aortic dissection can be diagnosed by transesophageal echocardiography (TEE). However, other diagnostic imaging techniques, such as CT and MRI, allow for more differentiated and accurate conclusions.If left untreated, aortic dissection usually develops into a life-threatening aneurysm when a tear forms in the inner wall of the vessel, the intima, allowing blood to flow into the media.
When should you see a doctor?
A general malaise in the organism that occurs suddenly and without any apparent reason should be clarified by a doctor. If there are symptoms such as vomiting, nausea or general weakness, there is reason for concern. A doctor should be consulted as soon as the symptoms persist for several days or weeks. In many cases, the symptoms develop gradually over a longer period of time. Contact with a physician should be established if the affected person notices a reduction in performance or a drop in well-being. Inner restlessness or sleep disturbances should be investigated and treated. If there are disturbances in concentration, a diffuse feeling of anxiety or attention problems, a visit to the doctor is necessary. If there is an internal feeling of pressure or pain in the chest, special care should be taken. A visit to the doctor is advisable to clarify the cause. If the pain radiates to the back or spreads further in the front region of the body, a doctor must perform a medical examination. There is a threat of life-threatening conditions that should be presented to a doctor in time. If bruises form or there is discoloration of the skin in the chest area, a visit to the doctor is necessary. If movements of the upper body can no longer be performed as usual, it is advisable to consult a doctor.
Treatment and therapy
Treatment aimed directly at curing Erdheim-Gesell syndrome does not exist. This is due to the fact that the interrelationships of the causative factors are not sufficiently understood, and genetic factors are also likely to be causative factors. Therefore, treatment is only considered when acute problems arise, such as in aortic dissection. In the ascending part of the aorta and in the aortic arch there are several important arterial branches, which can be displaced by the dissection or shear off downright. For certain organs and body regions, serious to life-threatening situations arise due to the inadequate blood supply, without aneurysms having already formed. If an aortic dissection is diagnosed without acute danger, drug therapy is mainly aimed at lowering blood pressure. The aim is to lower systolic values below 140 mmHg to minimize the risk of aneurysm formation. Other therapeutic measures available are mainly vascular surgery, which involves the insertion of vascular prostheses, usually with the use of the heart–lung machine, and restoring mechanical function to arteries that have been severed or torn.
Outlook and prognosis
In the worst cases, Erdheim-Gsell syndrome can lead to the death of the affected person. For this reason, patients are dependent on medical treatment in any case to avoid further damage and complications. Without treatment, the disease is usually fatal and leads to a significantly reduced life expectancy of the patient. Those affected suffer from severe chest pain and likewise vomiting and a general feeling of illness. Anxiety is also common and significantly reduces the patient’s quality of life. Many of those affected therefore also suffer from psychological upsets. There is further bleeding and severe pain in the back. In severe cases, Erdheim-Gsell syndrome can also lead to shock, in which the patient loses consciousness and can injure himself again in a fall. In any case, early diagnosis and treatment of Erdheim-Gsell syndrome has a very positive effect on the further course of the disease. With the help of medication, blood pressure can be lowered. However, most affected individuals also rely on surgical intervention to completely cure the disease.
Prevention
There are no preventive measures that could minimize the risk of developing Erdheim-Gsell syndrome, because the disease may be multifactorial and the relationships that ultimately trigger Erdheim-Gsell syndrome are not (yet) adequately understood.The most important preventive measures might be to have the aorta examined by ultrasound from time to time if other cases of Erdheim-Gsell syndrome are known within one’s family.
Follow-up
In Erdheim-Gsell syndrome, there are usually no special aftercare options available to the affected person. In this case, the patient is primarily dependent on direct medical treatment of the disease to prevent further complications. In the worst case, if left untreated, this can also lead to the death of the affected person, as heart failure usually occurs. For this reason, early diagnosis of Erdheim-Gsell syndrome is particularly important. In most cases, sufferers of this disease require surgical intervention. After such an operation, the patient must always rest and take care of his or her body. Here, strenuous activities or other stressful or sporting activities are to be avoided. Strict bed rest must be observed in order to accelerate the healing of Erdheim-Gsell syndrome. Furthermore, most patients also depend on taking medications to lower blood pressure. These should be taken regularly and in the correct amounts. In cases of doubt, a doctor should always be consulted. Even after a successful procedure, regular examinations by a physician are necessary to prevent the symptoms of Erdheim-Gsell syndrome from recurring.
What you can do yourself
For sufferers, there is no alternative way to conventional medicine to relieve the symptoms of Erdheim-Gsell syndrome. Self-help measures are limited to taking special care of one’s physical as well as emotional needs. Patients of Erdheim-Gsell syndrome should protect themselves from overexertion and overload. Physical activities should be adapted to the requirements and specifications of the organism. As soon as the blood pressure rises, immediate action is necessary. Relaxation techniques, rest and sparing help to lower blood pressure. Patients who regularly use methods such as yoga, meditation or autogenic training experience a reduction in stress and an increase in inner serenity. Balance and harmony strengthen the sense of health have a positive influence on the cardiovascular system. Music, hobbies or playing singing bowls are also helpful in improving well-being and finding an inner balance to everyday demands. In daily events, confrontations that are perceived as emotionally stressful should be avoided if possible. Optimizing one’s own behavior, adopting a de-escalating demeanor, and building a variety of strategies to manage conflict are particularly helpful. Cognitive training and seeking clarifying conversations can be applied to problem solving. In addition, for cardiac relief, care should be taken to keep body weight within the normal range of BMI.
