Ehlers-Danlos syndrome is a group of rare genetic disorders that diminish the body's ability to make connective tissues. It is caused by the inability of the body to synthesize different collagen types or a defect in synthesis. Six different variants of the disease are known. EDS type 3 is the most common variant, and is caused by the autosomal dominant mechanism. EDS type 4 is also an autosomal dominant defect in the type 3 collagen synthesis. EDS type 6 is an autosomal recessive defect due to deficinecy of an eznyme called lysyl hydroxylase. This results in unstable, flexible joints, including double-jointedness, and elastic, fragile, soft skin that easily forms welts and scars. Other symptoms include eye problems and nearsightedness. Depending on the individual mutation, the severity of the disease can vary from extremely mild to life-threatening. Bone deformations such as pectus excavatum (sunken chest) from extra-rapid bone growth may present early.
Mitral valve prolapse is also seen, which among other things creates an increased risk for surgery and anasthesia, as well as itself possibly leading to further, dangerous complications. It may be linked to chronic fatigue syndrome, fibromyalgia, and myalgic encephalomyelitis.
Other symptoms or complications often include fragile skin, bruising easily, early onset osteoarthritis (often severe), increased likelihood of organ membranes or arterial membranes rupturing, gum disease, and a long and varied list of things that degrade quality of life or threaten life.
It is not known whether some of the genetic variation represented by the various subdisorders of Ehlers-Danlos syndrome or other connective tissue disorders might not represent survivals of genes (rather than more recent harmful mutations of genes) which genetic variations were not problematic before humans began cooking meat a half-million years ago, or ceased using meat jerky and raw milk, thus eliminating sources of raw collagen from the human diet.
There is no known cure.
External link
