Loeys-Dietz Syndrome

Loeys-Dietz Syndrome is a 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 a newly defined (2005) disease, which was classified as vascular EDS and Marfan in the past. It is estimated that 1 in 100.000 people is suffering from LDS.

The main symptoms and at the same time the most serious problems occur in 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 a large overlap with Marfan and EDS. The characteristic skeletal manifestation is 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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