Ehlers-Danlos syndrome, also known as EDS, is a connective tissue disorder that is inherited as part of a genetic defect. Above all, EDS is manifested by overly mobile joints as well as overstretchability of the skin. Sometimes vessels, ligaments, muscles as well as tendons and internal organs can also be affected by EDS; the prognosis depends on which type of syndrome has been diagnosed.
What is Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome is a very rare connective tissue disorder. It is an inherited disease that occurs as part of a genetic defect. In this case, a collagen synthesis disorder is present. Since the connective tissue is present throughout the body, the symptoms and signs of Ehlers-Danlos syndrome can be very different and varied. Sometimes the affected person may complain of overstretched skin; in some cases there is even talk of rupture of the vessels as well as internal organs. There are ten types of EDS, which bring different symptoms as well as courses.
Causes
Ehlers-Danlos syndrome is caused by a gene defect in collagen synthesis. About 80 percent of all sufferers have types I to III, while types IV to VII account for only a fraction of all sufferers; types VIII to X occur even less frequently. While collagen V is affected in types I and II of Ehlers-Danlos syndrome, type III is a disorder of collagen III. The following genes can trigger Ehlers-Danlos syndrome: COL1A1 through COL3A1, as well as COL5A1 and COL5A2, and TNXB. Sometimes the ADAMTS2 and PLOD1 genes may also be responsible for the syndrome. Depending on the type, the mode of inheritance also depends. Many forms of Ehlers-Danlos syndrome are inherited in an autosomal dominant manner. This means that only one of the alleles has to be affected by the change for Ehlers-Danlos syndrome to develop. However, there are also forms that are inherited in an autosomal recessive manner. In this case, both alleles must have a change for the disease to be transmitted.
Symptoms, complaints, and signs
Due to the collagen synthesis disorder, the blood vessels, skin as well as joints are insufficiently formed. This means that the patient suffers from a lack of firmness and, as a consequence, overstretching of the connective tissue. This leads in the further course to a slight tearing of the already affected structures. In particular, blood vessels may rupture, spinal curvatures or even intestinal ruptures may occur. Sometimes even recurrent pneumothoraces is possible. In types I and II, the patient complains of very easily injured and overstretched skin. He exhibits very abnormal wound healing, has very severe hyperextensible joints, and in some cases the vessels as well as internal organs may be affected. In type III, the skin is only partially affected by the disorder; above all, those affected complain of extremely pronounced hypermobility of the joints. In type IV, there is very thin, almost translucent skin. The patient has a pronounced tendency to hematoma, also has very pronounced hypermobility of the joints, and at this stage the vessels and internal organs are often also affected by Ehlers-Danlos syndrome. Type VI complains predominantly of moderately severe hyperextensibility of the skin. Wound healing is abnormal; internal organs are sometimes involved. In many cases, there is also ocular involvement. In type VII A and B, there is hyperextensibility of the skin, which is sometimes extremely thin. Many patients also complain of hip dislocation. In type VII C, on the other hand, patients report sagging skin and involvement of their internal organs. The joints are also hypermobile.
Diagnosis and course
The physician makes a clinical diagnosis, predominantly consulting the family history. Furthermore, the physician checks for increased capillary fragility using the Rumpel-Leede test and also performs a skin biopsy, which is followed by an electron microscopic examination of the entire collagen structure. Human genetic DNA amplification can be used to find out the types. Depending on the type, the prognosis and disease course of Ehlers-Danlos syndrome vary. While some patients have only very minor limitations, other sufferers have problems in everyday life.Above all, pain, extreme joint instabilities as well as also deformities of the spine ensure that an enormous mobility restriction is given. However, the majority of patients have a normal life expectancy; only in very few patients who also suffer from vascular impairment do significant complications occur as part of Ehlers-Danlos syndrome.
Complications
The complications of Ehlers-Danlos syndrome depend greatly on the type diagnosed. In the severe cases, there are malformations of the skin, muscles, and ligaments. Internal organs may also be affected. The skin is often overstretched in patients and joints may move excessively. Children in particular suffer greatly from Ehlers-Danlos syndrome due to bullying and teasing. Depression and psychological problems may result. The skin can be damaged by even mild mechanical impact and tears easily. This increases the risk for accidents and inflammation. The spine is also affected by Ehlers-Danlos syndrome, so spinal deformities can occur. Abnormal wound healing sometimes occurs in all types, so infections and inflammations must be treated with special care. There is no treatment or therapy available for Ehlers-Danlos syndrome. However, the patient must be careful not to engage in physically strenuous activities. Likewise, wounds and simple colds must be treated with great caution. There is no decreased life expectancy due to Ehlers-Danlos syndrome. Complications may occur mainly due to curvature of the spine or delayed healing of wounds.
When should you see a doctor?
A doctor should be consulted if there are frequent skin tears, abnormal wound healing, and other symptoms that indicate impaired connective tissue. Ehlers-Danlos syndrome is also manifested by hematomas, overly sensitive skin, and sometimes spinal curvature and intestinal rupture. In the further course, hip complaints and diseases of the internal organs may also occur. With all these complaints an immediate medical clarification is necessary. Since Ehlers-Danlos syndrome is a hereditary disease, it makes sense to take a look at the family history. Expectant parents who suffer from the disease themselves or have cases of the disease in the family should ideally have the child examined immediately after birth. At the latest, if serious complications such as bleeding or severe pain occur, a physician must clarify the cause. Other contacts are the dermatologist, various internists or a specialist in hereditary diseases. In a medical emergency, it is best to immediately alert the ambulance service or the affected person should be taken to the nearest hospital.
Treatment and therapy
There is neither symptomatic nor causal therapy. For this reason, everything revolves around the prophylaxis of any sequelae. The patient must take care to avoid injury as well as major physical stress. This means that any sports, which sometimes increase the risk of injury, should be avoided. Pregnancy increases the risk; people affected by types I, II, IV and VI in particular must therefore be monitored closely. It is also important to take cough suppressant therapy in the case of colds. This is because it can prevent rupture of the colon and subsequent pneumothorax. If wounds occur, they must be treated carefully to promote impaired wound healing.
Outlook and prognosis
The prognosis of Ehlers-Danlos syndrome (EDS) depends on the type of disease. It is also different for each affected individual. Patients who have a hypermobile type of EDS usually have a normal life expectancy. In the vascular type of EDS, there are greater risks for complications caused by sudden internal bleeding. However, in both forms, quality of life is severely compromised. Furthermore, both forms of Ehlers-Danlos syndrome involve multiple hereditary disorders of the connective tissue. Therefore, no causal therapy is currently available. Even the options for symptomatic therapies are limited. Patients must therefore take care not to injure themselves.Even trivial operations should not be performed to avoid injuries. However, there are patients who hardly suffer from any restrictions. Others, however, are severely impaired in their daily lives. Overall, Ehlers-Danlos syndrome is progressive. Over the course of life, the limitations increase. Joint instabilities, spinal deformities, and severe pain can occur, greatly reducing mobility. In the vascular form of the disease, there is also a constant risk of blood vessels rupturing, resulting in a life-threatening complication. However, the worst consequence of EDS is the severe reduction in quality of life due to reduced mobility and the constant fear of painful ruptures.
Prevention
There is no prevention. Sometimes, only preimplantation genetic diagnosis or polar body diagnosis examinations can prevent the onward inheritance of Ehlers-Danlos syndrome.
Follow-up
There are usually very few, if any, aftercare measures and options available to the affected person with Ehlers-Danlos syndrome. Because it is a congenital disease, it also cannot be treated causally, but only symptomatically, so a complete cure cannot occur either. For this reason, early detection of Ehlers-Danlos syndrome is of primary importance to prevent further complications and discomfort for the affected person. The earlier the syndrome is detected by a doctor, the better the further course of the disease usually is. If the patient wishes to have children, hereditary counseling can be performed to prevent the syndrome from being passed on to descendants. In most cases, the life expectancy of the patient is not negatively affected by this syndrome. However, those affected are very dependent on the help of friends and family to cope with their daily lives. The blood vessels should also be checked regularly to prevent ruptures, which can be life-threatening for the affected person. In children, Ehlers-Danlos syndrome should be fully informed to avoid ambiguity.
What you can do yourself
Patients cannot cure Ehlers-Danlos syndrome with their own remedies. The hereditary disease is not considered curable. Nevertheless, various measures can be taken in everyday life to achieve relief from the symptoms. The supportive possibilities must be applied repeatedly, as a permanent minimization of the symptoms cannot be achieved with them. The connective tissue weakness can be concealed by fashionable cuts of clothing and accessories. Wearing body-shaping as well as stabilizing underwear and at the same time somewhat loose-fitting clothes help so that the fellow men cannot see the disorders of the connective tissue in everyday life. Massages, creams or alternating baths stimulate the blood circulation of the skin and support the organism. Sports activities help to build up the muscles. This can minimize some areas of connective tissue weakness. Parents and physicians should educate sufferers about Ehlers-Danlos syndrome in detail and present their symptoms and the course of the disease. The child benefits from being fully informed. Digital exchange with other sufferers can also be found helpful in coping with the disease in everyday life. Early in the child’s life, confidence in his or her own competencies should be specifically supported and encouraged. Strong self-confidence helps the child to achieve a good quality of life with the syndrome.
