There are six different types of Ehlers-Danlos syndrome. Some are more serious than others. For example, people with the rare vascular type of EDS have fragile skin, making blood vessels more likely to tear. This can cause life-threatening organ complications.
A different gene mutation causes each type of Ehlers-Danlos. You can’t get more than one type from your parents.
The most common type of Ehlers-Danlos syndrome is Hypermobility Spectrum Disorder, which has several distinct clinical features, including highly loose and flexible joints (hyperextensibility) that are easily dislocated, paper-thin scars that form when the body heals, easy bruising, and other fragile organ systems. The inheritance of the condition is autosomal dominant, implying a 50% chance for each child to acquire it from their biological parents. It’s possible to be born with the disorder due to a gene mutation not passed on from a parent (de novo), but this is much less common. Every biological kid has a 50% chance of acquiring this condition from their parents because the inheritance pattern for this illness is autosomal dominant.
There are six different types of EDS Vascular Ehlers-Danlos Syndrome is the most serious, and it can lead to ruptures of blood vessels and internal organs, affecting life expectancy. This type has symptoms similar to hEDS and is most often diagnosed by a doctor familiar with the condition based on a physical exam and medical history.
Fibrosing connective tissue disease is the second most common type of Ehlers-Danlos, affecting many different body parts. This includes the skin, blood vessels, bones, tendons, ligaments, and muscles. People with this condition are at a greater risk of developing joint problems and must take extra precautions to safeguard their joints. They should also seek treatment from a specialist to help them manage their health.
The vascular type of Ehlers-Danlos is the most serious form. It makes blood vessels and organs fragile, resulting in complications that can lead to death, such as internal bleeding or aortic dissection. People with this subtype should avoid sudden changes in load (e.g. lifting weighty weights), isometric exercises, roller coasters, and activities that involve repetitive movements such as swimming, playing sports, basketball, and bouncy castles. They should also not participate in activities that require jumping or bending, such as martial arts and hand gliders. Taking part in physical exertion in an overheated environment may make symptoms worse. People with vascular Ehlers-Danlos should also avoid specific instruments, such as brass and woodwind, because of the physical effort involved in playing them.
This form is characterized by easy bruising, translucent skin, and ruptured blood vessels and can be found in women of all ages and ethnicities. It can cause problems in the heart and aorta, including mitral valve prolapse, low bone density, kyphosis, and scoliosis. This condition can cause other health problems, including inflammatory bowel disease and hearing loss.
A physical exam and a family history can help diagnose vascular Ehlers-Danlos syndrome. Genetic testing can confirm if you have this type of Ehlers-Danlos. There is more than a 95% chance that if you have the features of this disorder, a change in the COL3A1 gene will be identified in your DNA sample.
The Kyphoscoliosis type of Ehlers-Danlos syndrome causes outward and sideways curvature of the spine and a hunched back. It’s the most severe condition because it affects the spine and other vital organs. It also leads to breathing problems that can cause lung failure if not treated early. This disorder is characterized by severe joint laxity and poor muscle tone, making it hard for people with this condition to stand upright or walk.
In the vascular type of Ehlers-Danlos, mutations in the COL3A1 gene lead to excessive connective tissue fragility that can cause arterial and uterine rupture, among other serious complications. Similarly, the skeletal dysplasia type of this condition is caused by genetic mutations in the PLOD1 and FKBP14 genes.
People with dermatosparaxis have fragile skin that bruises easily and can’t heal well, so they have trouble getting the right clothes and shoes. They may have trouble swallowing and suffer from low blood pressure and poor digestion. This disorder can cause fertility issues and joint pain. They also have a higher risk of developing certain cancers and are at an increased risk of heart disease, stroke, and liver tumors.
Ehlers-Danlos syndromes happen when your body makes a protein called collagen incorrectly. This protein forms the connections that hold your bones, skin, and organs together. When your collagen isn’t working correctly, these structures can be weak and less likely to hold up against stress.
These genetic disorders can be mild to severe. Some types cause little more than hyperextension of the skin and other soft tissues. Other kinds are much more severe, like vascular Ehlers-Danlos syndrome (vEDS), which can cause weakened or ruptured blood vessels and aortas. This type of Ehlers-Danlos syndrome can be deadly.
Other types of Ehlers-Danlos include arthrochalasia, Ehlers-Danlos syndrome, brittle cornea syndrome, and vasovagal syncope. These conditions also affect connective tissue and may include symptoms such as hip dislocations, joint hyperextension, bruising easily, and hernias.
Symptoms vary from person to person, and they may come and go. If you have Ehlers-Danlos syndrome, it’s important to tell your healthcare provider about any changes in your symptoms.
Fortunately, treatments can help you manage your symptoms and prevent potential injuries. These include physical therapy to strengthen your muscles and joints. You can use exercise such as walking, low-impact aerobics, swimming, and cycling. You can reduce pain and aches by maintaining a well-balanced diet and taking calcium and vitamin D supplements. Over-the-counter and prescription medications can also be helpful.