The multiple disorders that comprise the disease complex known as Ehlers-Danlos (EDS) all involve some defect in connective tissue. This is an important part of our bodies that holds together all of the organs and structures. Hence, defects in connective tissue have wide-ranging and often serious consequences.
Type VIA is a subcategory of type VI EDS that involves joints, major arteries, skin, spine, and the eye. The eyeball is structurally fragile and at risk of rupturing with minimal trauma. The cornea is also fragile and sometimes misshapen. Nearsightedness is common and the risk of retinal detachments is increased compared with the unaffected population.
Infants are often born with clubfeet. They tend to be ‘floppy’ with low muscle tone. The joints are highly flexible and dislocations can easily occur. The spine may have an abnormal curvature at birth (scoliosis) and with age this often progresses to marked kyphoscoliosis which may cause respiratory difficulties. The skin is soft and easily stretched. Easy bruising has been noted. The greatest risk to longevity lies in the tendency for spontaneous rupture of major arteries such as the aorta and those in the brain. Mental functioning is normal and lifespan is not reduced unless catastrophic events intervene.
This is an autosomal recessive disorder that results from a gene mutation responsible for making an enzyme necessary for the structural integrity of connective tissue. Both normal parents who carry the gene may each pass it on to their children resulting in the clinical disease.
The diagnosis of Ehlers-Danlos syndromes requires a multidisciplinary approach with ophthalmologists, orthopedists, pediatricians and medical geneticists. The prognosis is excellent if urgent conditions such as eyeball and vascular ruptures, and joint dislocations are promptly treated.