Authors Note: I am NOT a medical professional of any kind. If you believe you are someone you know may have this condition, please consult with a trusted medical professional. I do NOT condone or believe in self-diagnosis.
Resources: https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125
https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/diagnosis-treatment/drc-20362149
Resource:MedicineNET.com
: A group inherited a condition that affects a person’s connective tissue. (Skin, joints, and blood vessels.)
: Connective tissue is very complex, in that it is a mixture of proteins and other substances which provides strength and elasticity to the underline structures to a person’s body.
: For people with EDS This can be a problem if you have a wound that requires stitches. Because EDS causes the skin to be stretchy and or fragile.
: Ehlers-Danlos syndrome, vascular type, A more severe type of the condition. Can cause the walls of their blood vessels, intestines and uterus to rupture. Can cause serious complications if you’re planning to get pregnant. It’s advised to talk to a genetic specialist before starting a family.
Recap of the classic symptoms of EDS
: Overly flexible joints
: Stretchy/Fragile Skin
How severe symptoms are for someone with EDS varies for each person with the condition. For example, a person with EDS may have the overly flexible joints but not the fragile or stretchy skin.
Ehlers-Danlos syndrome, Vascular Type, People with this type of EDS share distinctive facial features. Such as a thin nose, thin upper lip, small earlobes and prominent eyes. As well as thin translucent skin that can bruise easily. (for those who are fair-skinned) The underlining of blood vessels is very visible through the skin.
: This severe type of EDS can also weaken the heart’s largest artery, the aorta.
: As well the arteries that are linked to other regions in the body. If any of the major arteries in your body ruptures it could be fatal.
Causes- Different types of EDS are caused by genetic links some of which are passed on from parent to child. If you carry the most common varieties of EDS, there is a 50% chance you’ll pass it onto your child or children.
There is also the risk of early on-set arthritis for those with the type of EDS that causes overly flexible joints as well as dislocations.
Diagnosis: Fragile or stretchy skin, overly flexible joints and a family history of EDS is usually enough info to confirm a diagnosis. Genetic testing on the blood is also another way to confirm the condition as well as full out any other possible diagnosis.
Treatment- While there is no cure for EDS, there are ways to treat to help you manage the condition, and prevent further complications in the future. Such as medications like over the counter pain relievers, stronger pain medications earlobes and for acute injuries. Blood Pressure medication, because in some cases of EDS, the blood vessels are more fragile your doctor may want to put them on blood pressure medication to help keep your blood pressure low to stress on the vessels. PT is the primary source of treatment for those with the most common of EDS. PT (Physical Therapy) can help stabilize the joints and strengthen muscles. Surgery may be recommended to repair damaged joints from dislocations. But there is a risk of the skin and affected connective tissue not healing properly after the surgery. Surgery may also be necessary for those who have Ehlers-Danlos Syndrome, vascular type to repair blood vessels and organs.
The following is a list of different types of EDS. Resource:MedicineNET.com
: Classic types 1 and 2-Overly flexible joints, loose and or fragile skin. Tares or bruises easily. Joint dislocations and scoliosis are common. Unstable joints lead to sprains and strains on the limbs. Inherited from the parent.
Type 3-Hyper-Mobility Type- The MAJOR manifestation of EDS. Any joint can be affected, and dislocations are frequent. This type, which is also inherited, as an autosomal dominant genetic trait. In other words, a pattern of inheritance occurs.
Vascular Type, Formally type 4 (the arterial form.) A club is present at birth. The futures of parties can be fatal. Can be passed on from one parent to child. The parent must in merit one copy of the same mutation from each parent in order to pass down to the child or children, recessive gene.
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Kyphoscoliosis Type five-fragile globe of eyes, significant skin and joint laxity, and scoliosis are inherited in this type EDS.
Arthrochalsia type six-(formerly type VIIB, arthrochalasis multiplex congenita.l) Short in height, severe laxity in the joints dislocations. Skin involvement is variable. Both autosomal dominant and recessive inheritance is possible. A skin biopsy can be used to diagnose this disorder.
Dermatosparaxis type seven
(formerly type VIIC)
Patients severely have fragile skin that is soft and doughy with sagging and folding. This rare form of Ehlers-Danlos syndrome can be diagnosed with a skin biopsy.
Tenascin-X deficient type
Joint hypermobility, hyperelastic skin, and fragile tissue are seen. Patients with this type lack the multiple shrinking (atrophied) scars in the skin that are often seen in classic Ehlers-Danlos. It is inherited as an autosomal recessive genetic trait.
Other rare variant types have been reported in single families.
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