Ehlers-Danlos syndrome (EDS) is a group of genetic disorders where the connective tissue that supports the skin, bones, blood vessels and other organs and tissues fails to form properly, due to mutations in genes that produce the fibrous proteins and enzymes that make collagen. This can result in: chronic pain; difficulty in recovering from other injuries; soft, velvety, fragile skin; organ rupture; early onset of osteoporosis; a greater chance of joint dislocations due to hyperflexibility of joints; scoliosis, where the spine has a sideways curve; and aortic dissection, where injury to the innermost layer of the aorta allows blood to flow between the layers of the aortic wall, forcing the layers apart.
EDS affects approximately 1 in every 5,000 people globally. It is thought that around 10,000,000 Americans are affected. Though many EDS sufferers can expect a normal life expectancy, those suffering from th types of EDS that affect blood vessels can expect a significantly shorter life expectancy. There is no known cure for EDS, and current treatments are palliative, including physiotherapy, occupational therapy, close monitoring of the cardiovascular system and orthopedic instruments such as wheelchairs, bracing, and casting. There are 13 types of EDS, some of which are more common than others:
- Hypermobile EDS (hEDS) characterized primarily by joint hypermobility affecting both large and small joints. Frequent joint dislocations and subluxations (partial dislocations). A common form of EDS.
- Classical EDS – associated with extremely elastic, stretchy, smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility. A common form of EDS
- Vascular EDS – characterized by thin, translucent, extremely fragile skin that bruises easily. The intestines, arteries and uterus are also fragile and prone to rupture.
- Kyphoscoliosis EDS – associated with severe hypotonia (a state of low tonal muscle, commonly known as “floppy baby syndrome”) at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility.
- Arthrochalasia EDS – severe joint hypermobility and congenital hip dislocation
Dermatosparaxis EDS – associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias.
- Classical-like EDS (clEDS) – skin hyperextensibility with velvety skin texture and absence of atrophic scarring, generalized joint hypermobility (GJH) and easily bruised skin or spontaneous ecchymoses (discolorations of the skin resulting from bleeding underneath).
- Spondylodysplastic EDS (spEDS) – short stature (progressive in childhood), muscle hypotonia (ranging from severe congenital, to mild later-onset), and bowing of limbs.
- Musculocontractural EDS (mcEDS) characterized by congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot), characteristic craniofacial features, and skin features such as skin hyperextensibility, easy bruisability, fragility with atrophic scars, increased wrinkling on the palms.
- Myopathic EDS (mEDS) characterized by congenital muscle hypotonia and/or muscle atrophy, that improves with age. Proximal joint contractures (joints of the knee, hip and elbow) and hypermobility of distal joints (joints of the ankles, wrists, feet and hands) are also common.
- Periodontal EDS (pEDS) – severe, early onset (childhood or adolescence) and intractable periodontitis, lack of attached gingiva, pretibial plaques. Has a family history of a first-degree relative who meets clinical criteria.
- Cardiac-valvular EDS (cvEDS) – severe progressive cardiac-valvular problems (aortic valve, mitral valve), skin problems (hyperextensibility, atrophic scars, thin skin, easy bruising), and joint hypermobility (generalized or restricted to small joints).
Medications prescribed include: beta blockers (e.g. celiprolol) and angiotensin-converting-enzyme (ACE) inhibitors (e.g. benazepril/Lotensin, zofenopril), which lowers blood pressure; acetaminophen (Tylenol/paracetamol); NSAIDs such as ibuprofen; and possibly desmopressin (DDAVP, Minrin), which is an analogue of vasopressin and is an antidiuretic, i.e. it limits the amount of water lost in the urine. Regular surgery may also be needed for EDS, for which opioids may be prescribed.