Let’s take a look at Ehlers Danlos Syndromes (EDS).
Ehlers-Danlos Syndrome is a group of inherited connective tissue disorders, caused by faulty collagen. Connective tissue helps support the skin, muscles, ligaments, and organs of the body. People who have the defect in their connective tissue associated with Ehlers-Danlos Syndrome may have symptoms which include joint hypermobility, skin which is easily stretched and bruised, and fragile tissues. There are 3 common types of EDS; and 3 extremely rare, so we’ll just talk about the first 3 here. As it is genetic, this is not a condition with any cure, but it can be managed, and symptoms can be treated – typically under the management of a rheumatologist. The earlier in life a diagnosis is made, the better it can be managed.
Hypermobility (about 1 in 10,000 people)
The primary symptom is generalized joint hypermobility which affects large and small joints. Joint subluxations and dislocations are a commonly recurring problem. Skin involvement (stretchiness, fragility, and bruising) is present but to varying degrees of severity, according to the Ehlers-Danlos Foundation. Musculoskeletal pain is present and can be debilitating.
Classical (about 1 in 20,000 people)
The primary symptom is distinctive hyperextensibility (stretchiness) of the skin along with scars, calcified hematomas, and fat-containing cysts commonly found over pressure points. Joint hypermobility is also a clinical manifestation of the Classical Type.
Vascular (about 1 in 250,000 people)
The vascular type is considered the most serious or severe form of Ehlers-Danlos Syndrome. Skin is extremely thin (veins can be seen easily through the skin) and there are distinctive facial characteristics (large eyes, thin nose, lobeless ears, short stature, and thin scalp hair). This form can be lethal, as the artery walls can be severely weakened.
There are only about 100 cases of the other 3 types of EDS combined – worldwide.