Ehlers-Danlos Syndrome
Clinical Description
Ehlers-Danlos syndrome is a group of hereditary disorders that affect a person’s connective tissues, mainly the skin, joints and blood vessel walls. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem when someone has a cut or wound that needs stitches, because the skin often isn't strong enough to hold them. A more severe form of the disorder can cause the blood vessel walls, intestines or uterus to rupture.
Symptoms include: hypermobility of the fingers, thin and almost translucent skin, easily bruised skin, large and irregular collagen fibers, and most importantly, a type III collagen deficiency. There are several different types of this disorder, but all are caused by the type III collagen deficiency.
Molecular Genetics
The gene involved with this disorder is the COL3A1 located on Chromosome 2q32.2. Normal function of this gene is that it provides instructions for producing an element of collagen. Collagens form a group of proteins that toughen and support many tissues in the body. Type III collagen is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. When this gene does not function properly, causes the collagen to become thinner and more flexible, leading to the many symptoms of the syndrome.
Management
There is currently no cure for Ehlers-Danlos syndrome, but treatment can help a patient manage their specific symptoms and prevent further complications. Each person with the disorder has different symptoms and must be treated specifically for those symptoms. Doctors may prescribe medications for pain and for blood pressure; keeping the blood pressure low is important because its keeps the stress levels on the blood vessels lower. Surgery is a very rare form of treatment used to repair damaged joints.
The most common treatment is physical therapy. Joints with weak connective tissue are more likely to dislocate. Exercises to strengthen the muscles around a joint can help stabilize the joint. Physical therapists may also recommend specific braces to help prevent joint dislocations. These patients will need regular physical therapy sessions depending on pain and amount of dislocations. Pain medication will most likely be needed because over-the-counter pain medication such as ibuprofen will not be enough.
Inheritance
In almost all cases, the mode of inheritance is autosomal