Loeys-Dietz syndrome

What is Loeys-Dietz syndrome?

Loeys-Dietz is a genetic condition that affects connective tissue in the body.
Identified in 2005, research is still ongoing into the different gene mutations that trigger the syndrome.

The disease presents with a wide variety of symptoms, some of them severe in nature. Often the symptoms of this rare disease mirror those of Marfan syndrome and Ehlers Danlos (the vascular type).

It is characterized by symptoms that affect the cardiovascular, muscoskeletal and gastrointestinal systems of the body.

What gene changes cause Loeys-Dietz syndrome?

The syndrome is the result of mutations in one of the following 5 genes,

Type 1: TGFBR1, type 2: TGFBR2; type 3: SMAD3; type 4: TGFB2; type 5: TGFB3

It is an autosomal dominant inherited syndrome. However most incidences are the result of a de novo mutation, and are the first in the family.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Loeys-Dietz syndrome?

The main symptoms include enlargement of the aorta, and with this the potential for life threatening aneurysms and aortic dissection.

Other serious health conditions associated with the syndrome include congenital heart defects and twisted arteries.

Unique facial features of the syndrome include widely spaced eyes, blue or gray in the whites of the eye, flat cheekbones, a small or receding chin, a wide or split uvula (the skin at the back of the neck) and long fingers and toes. A club foot is another possible symptom, as is soft skin that bruises easily. Individuals may also have a cleft palate.

Other health conditions associated with the syndrome include malformed spine in the neck, scoliosis, hernias, osteoporosis, gastrointestinal issues and allergies both food related and environmental.

How does someone get tested for Loeys-Dietz syndrome?

The initial testing for Loeys-Dietz syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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