Tall, thin, young individuals, with longer upper limb length and
width is the primary identification, with highly placed and an
arched palate...
This disease is inherited and is the most common hereditary
connective tissue disorder (1 in every 10000 individual) and is
basically due to a defect in the production of certain
extracellular matrix glycoprotein (refer to a molecular biologist
for more information, clinically insignificant)...
With this condition, there is lack of support (the normal matrix
supports the cells in the network and holds them in position), and
this leads to a great elasticity of the skin, ligaments, tendons
and blood vessels or even the muscles in the eye itself.
This is autosomal dominant, basically meaning that your future
children will be affected no matter what are the circumstances if
you are affected.
Severity of the types, that I am not very sure of, you may want to
ask an orthopedist or a rheumatologist, but for medical risk
factors, there happened to be a raised risk of heart valve
problems, aortic dissection (where the aorta literally dissects
open due to lack of stability and hence are torn easily)...
As it also involves the eye, you would also experience some blurred
vision (shortsightedness usually) and eye lens protrusion or
dislocation because of the weak muscles that holds it in place
(ciliary muslces) under this condition.
There are hardly any treatment available, and death results usually
from the aortic dissection and hence frequent follow up is done to
ensure that the patient is alright. Modes of reducing this chances
is by giving something to the patient that would reduce the heart
rate and hence reducing the blood flow rate and pressure so that it
would not induce such a high jet like pressure to tear the blood
vessel. Such a medication is called the beta blockers (metoprolol,
atenolol or the trade name - Betaloc).
If detected that the aorta is going into failure (by measuring its
diameter), a surgical approach can be done to repair it.
Antibiotics should be given every time the patient is subjected to
any invasive procedures such as dental surgery, catheterization or
blood taking procedures for fear of bacterial infection of the
already weakened and traumatized heart valves. This is called
bacterial endocarditis.
Best is to prevent through genetic counselling...
