Loeys-Dietz Syndrome

Loeys-Dietz Syndrome (LDS) is an inherited connective tissue disorder first described in 2005 that primarily affects the blood vessels and skeleton. It shares some features with Marfan syndrome but is generally more aggressive in its vascular manifestations, with aortic aneurysms and dissections occurring at younger ages and smaller aortic diameters than in Marfan syndrome.

The syndrome has several characteristic features including widely spaced eyes (hypertelorism), a split or broad uvula (the tissue that hangs at the back of the throat), and arterial tortuosity (twisted arteries) throughout the body. However, features vary considerably among affected individuals, even within the same family. Some individuals have minimal physical features while still having significant vascular involvement.

Vascular complications are the most serious aspect of LDS. Aneurysms can develop in arteries throughout the body, not just the aorta. These aneurysms can rupture or dissect (tear), which is life-threatening. Other features may include joint hypermobility, easy bruising, thin skin, allergies including food allergies and asthma, and inflammatory conditions such as inflammatory bowel disease.

LDS is caused by mutations in genes involved in TGF-beta signaling, including TGFBR1, TGFBR2, and SMAD3 (among others). The condition is inherited in an autosomal dominant pattern. Management includes regular imaging surveillance of blood vessels, blood pressure control, and preventive surgery when aneurysms reach critical sizes. Surgery thresholds are typically lower than for other aortic conditions.

NutraHacker examines the following genes related to Loeys-Dietz Syndrome:

• TGFBR1
• SMAD3

For more information about your own genetic profile as related to Loeys-Dietz Syndrome, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload WGS raw DNA data and find out more about your critical genetics profile today.