What is Ehlers-Danlos Syndrome?
EDS is a relatively unknown connective tissue disorder.
EDS is believed to affect 1 in 5,000 people. It is found in both males and females of all racial and ethnic backgrounds.
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders. Connective tissues are created by proteins and include tissue such as skin, bone, organs and muscles. These disorders are characterized by symptoms such as joint hypermobility, easy bruising and stretchy skin. The cause is frequently attributed to a defect in collagen and can vary in severity, making each affected person’s case unique. EDS is believed to run true in a family, meaning if one member has a certain type then others who inherit EDS will also have that type. Currently there are six recognized types: the dermatosparaxis type, the arthrochalasia type, the kyphoscoliosis type, the hypermobility type, the classic type, and the vascular type, though not everyone neatly falls into one category. Since it is still relatively unknown, reported cases are expected to not represent the actual number of people living with the syndrome.
Dermatosparaxis Type
The Dermatosparaxis type can be diagnosed by a skin biopsy. Its primary symptoms are extremely fragile skin and easy bruising. Healing is not impaired and scars appear normal, however joints may be very loose. As with the arthrochalasia type, dermatosparaxis is rare; only about 10 cases have been reported world wide.
Arthrochalasia Type
The Arthrochalasia type of EDS can be diagnosed by a skin biopsy. One of the primary symptoms is a tendency for hip dislocation since birth. Hypermobile joints as well as subluxations, which are partial joint dislocations, are also present. Sometimes there are other symptoms such as stretchy skin, easy bruising and atrophic scars (atrophic scars appear wrinkled and thin). This type is rare; only about 30 cases have been reported world wide.
Kyphoscoliosis Type
The Kyphoscoliosis type occurs due to a mutation in a collagen-modifying enzyme and can be diagnosed by a urine test. Its dominating symptoms are: scoliosis at birth, usually progressing rapidly; severely weak muscle tone; whites of the eyes so fragile that minor trauma can cause them to rupture. This type is also rare; only about 60 cases have been reported world wide.
Hypermobility Type
The Hypermobility type is determined by clinical observation and family history. The primary symptom is very flexible joints, frequently resulting in subluxations and dislocations. This type varies widely amongst patients and also may be indicated by symptoms such as soft or velvety skin, easy bruising or a heart condition known as mitral valve prolapse. A common complication is chronic pain in the joints and limbs. This type is considered both the least severe and most common, affecting around 1 in every 10,000 people.
Classic Type
The Classic type is also determined by clinical observation and family history. The primary symptoms include those of the Hypermobility type plus velvety skin that is highly stretchy (the severity of which varies amongst patients), fragile, slow to heal and prone to bruising. Complications vary in severity and can include poor muscle tone, cysts in the joints and on pressure points, flat feet and vascular problems such as mitral valve prolapse and the spontaneous rupture of large arteries. Though similar to the Hypermobile type it is not as common, affecting about 1 in 20,000 people.
Vascular Type
The Vascular type is considered the most severe and deadly of the six classifications. Though it can be diagnosed through a skin biopsy or genetic blood test, many individuals are not diagnosed until after death. Typically, blood vessels can be seen through thin, translucent skin and facial appearance includes large eyes, a thin nose and nearly lobeless ears. Arteries and organs, especially the heart, intestines, and uterus, are affected and are prone to rupture, frequently resulting in sudden death. Complications usually appear by the age of 20 and median life expectancy is around 48 years. Vascular EDS affects 1 in 100,000 people.
References:
Ehlers-Danlos National Foundation
