Loeys Dietz Syndrome

Loeys Dietz Syndrome is another genetic connective tissue disorder like Marfan or Ehlers-Danlos Syndrome.

LDS is inherited in an autosomal dominant manner, through mutations in the genes of transforming growth factor receptors I and II (TGF beta).

LDS is pretty newly defined (2005) disease and LDS patients were classified as vascular EDS and Marfan patients in the past. It is estimated that 1 in 100000 people is suffering from LDS.

The main symptoms and at the same time the most serious problems occur in the blood vessels: vascular aneurysms (not only but mostly of the aorta), dissections, tortuosity of the arteries (especially in the neck/head region).

The skeletal, skin and eye involvements show large overlap with Marfan and EDS. Characteristic skeletal manifestation is the joint hypermobility.

LDS is diagnosed via imaging techniques and genetic blood tests.

Cervical spine instabilities occur frequently in LDS patients.

Also see publications.


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