Loeys-Dietz Syndrome (cont.)
Is Loeys-Dietz syndrome inherited?
Loeys-Dietz syndrome is inherited, meaning that it is a genetic syndrome that
tends to run in families. The mutated abnormal gene that causes Loeys-Dietz
syndrome is dominant, and only one
parent needs pass the gene to a child in order for the syndrome to develop.
(This is in contrast to recessive syndromes in
which each parent must pass the gene to a child in order for the syndrome to
develop.) A report published in the New England Journal of Medicine in August,
2006, reported that 52 affected families (with a total of 90 affected
individuals) have been identified.
What causes Loeys-Dietz syndrome?
The cause of Loeys-Dietz syndrome has been determined recently. TGF-beta is a
signaling molecule produced in the body that influences the growth, movement,
and activity of cells as well as the death of cells by changing the way many
genes within the cells are expressed. TGF-beta brings about the changes within
cells by binding to receptors on the surfaces of the cells. The genetic mutation
in Loeys-Dietz causes a change in the receptor that prevents TGF-beta from
working on the cells. A test is available that can detect the genetic mutation
associated with the syndrome; however, the test is not available in most
laboratories.
How is Loeys-Dietz syndrome diagnosed?
The diagnosis of aortic aneurysms, including those seen in the Loeys-Dietz
syndrome, usually is made by injecting a dye that is visible by x-ray,
computerized tomography (CT), or magnetic resonance imaging (MRI) into the blood
vessels. X-rays or scans by CT or MRI then are done that show the arteries and
aneurysms (because the aneurysms are filled with dye-containing blood). Although
aortic aneurysms are the hallmark of Loeys-Dietz Syndrome and the characteristic
facial features may suggest the diagnosis, the definitive diagnosis of
Loeys-Dietz Syndrome can only be established by the genetic test (described
above).
Next: How is Loeys-Dietz syndrome treated? »
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