Ehlers-Danlos Syndrome is a condition that affects many different types of people. However, four main types are most prevalent. This article will take a look at these types.
The Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders affecting the skin and joint tissues. It is characterized by skin hyperextensibility, laxity of joints and recurrent joint dislocations.
Several genetic defects have been identified that lead to EDS. They are grouped into several ehlers-danlos syndrome types, depending on the mode of inheritance and clinical signs.
The significant features of these variants are skin hyperextensibility, recurrent joint dislocations, and osteoarthritis. Hypermobile EDS is the most common type of EDS. However, the genetic mutations have not been identified in most cases.
Biallelic mutations in the TNXB gene cause classical-like EDS. In these patients, the tenascin-X protein is absent. This result in soft, doughy skin. Patients may also develop hernias.
Cardiac-valvular EDS is characterized by stretchy, fragile skin and overly flexible joints. These patients also tend to develop severe bleeding.
Vascular EDS is characterized by thin, translucent skin. This is a consequence of fragile blood vessels. Other symptoms include easy bruising and problems with internal organs.
An adducted thumb characterizes Musculocontractural EDS. There is also an increased incidence of hernias in patients with this syndrome.
The tenascin-X protein localizes to the collagen fibrils in the tendon. Collagen is the main structural component of the body and plays a vital role in strengthening connective tissues.
Research has shown that the ultrastructure of the collagen fibrils is altered in EDS. This was evidenced by transmission electron microscopy in dermal tissue.
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare connective tissue disorder that affects children. The disease is caused by mutations in the PLOD1 gene, resulting in hypermobile, fragile skin development. It can also result in ocular problems. Symptoms of this disease include recurrent respiratory tract infections, kyphosis, and scleral fragility.
This condition can be challenging to diagnose, as it may be present during early childhood or late life. Diagnosis is based on physical examination and medical history. Medical tests are also performed, including a hearing test. There are genetic tests available to identify PLOD1 pathogenic variants.
Some of the signs and symptoms of this condition are hunched spine, stiff joints, short stature, and stretchy or thin skin. Patients can be treated with orthopedic surgery. Braces may be required depending on the severity of the joint instability.
kEDS is one of the rarer forms of Ehlers-Danlos Syndrome. The disease can lead to life-threatening complications. Typically, it is diagnosed during infancy or early childhood. kEDS may also affect blood vessels. Symptoms include easy bruising, bleeding, and tearing.
People with kEDS have an increased risk of heart and blood vessel damage. They may also develop osteoporosis and restrictive lung disease. In severe cases, kyphosis can cause cardiac failure. If it is suspected that a person has kEDS, treatment should be carried out in a specialist center. During this time, physical therapy is also prescribed.
Ehlers-Danlos syndrome type IV, also known as vascular Ehlers-Danlos syndrome, is a rare condition characterized by severe arterial complications. A faulty gene causes it. People with this disorder are at risk for arterial rupture, internal bleeding, and bowel rupture.
Vascular Ehlers-Danlos syndrome can affect many body parts, including the heart, lungs, skin, and intestines. It causes thin tissue to degenerate, leading to a tear in the artery. If the incision is more extensive, it can be fatal. Arterial ruptures are unpredictable and challenging to repair.
The symptoms of this disorder vary by patient. Some people experience loose joints, easy bruising, and thin skin. Others have problems with the heart and heart valves, joint contractures, and breathing difficulties.
In the case of vascular Ehlers-Danlos, the underlying blood vessels are visible through the skin. These lesions can be very painful and may require emergency medical attention. A person with this condition may need surgery to fix the internal damage.
Pregnant women with vascular Ehlers-Danlos are at increased risk of uterine rupture. Five women died in the postpartum period. Using an elective cesarean section can decrease the risk.
This condition can cause internal bleeding and bruising. Many people with vascular Ehlers-Danlos will require regular medical screenings to detect complications.
Some patients with vascular Ehlers-Danlos also have problems with the uterus and other organs. This disorder is more likely to occur in a child but can also affect an adult.
Hypermobile Ehlers-Danlos syndrome (hEDS) is a group of inherited connective tissue disorders that affects people in various ways. In addition to affecting the joints, EDS can affect the gastrointestinal system and neurological health. A fault causes it in a gene that makes the connective tissues softer and weaker.
The clinical consequences of hEDS are mainly related to fatigue, cardiovascular dysautonomia, and psychological distress. However, the underlying mechanisms affecting the disease’s origin and progression have not been studied.
A recent study looked at a sample of adults with hEDS. It was found that people with the condition were equally likely to suffer from bone fragility, neuropathic pain, and joint pain. But their musculoskeletal symptoms were much more severe than those in patients with hypermobility syndrome.
In this study, 61 patients were evaluated for hEDS. Of these, 32 patients were considered to be improved. Patients with hEDS had a median age of 30 years. This is similar to those in the general population. Most patients with hEDS are female.