Loeys-Dietz Syndrome

Loeys-Dietz Syndrome is a recently discovered genetic disorder of the connective tissue. It shares some features with Marfan Syndrome, but it also varies and has important differences that are not found in Marfan Syndrome.

It is vitally important to have a proper and early diagnosis with Loeys-Dietz Syndrome. As a result of an early diagnosis, a person affected can be more closely monitored and also begin to receive appropriate medical treatment when necessary.

The causes of Loeys-Dietz Syndrome are the result of a genetic mutation of either one of the two genes that tell the body how to properly make proteins, including the proteins in connective tissue. The particular genes in question are called transforming growth factor beta-receptor 1 (TGFβR1) and transforming growth factor beta 2 (TGFβR2) As a result, when either of these genes has a mutation, growth and development of the body’s connective tissue, among other body systems are disrupted, which lead to the signs and symptoms characteristically associated with Loeys-Dietz Syndrome.

As a result of connective tissue being found throughout the body, the affect of Loeys-Dietz also occur throughout the body. These symptoms include, the heart, blood vessels, bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.

An important feature of Loeys-Dietz Syndrome is an enlargement of the aorta, which is the large blood vessel that carries blood from the heart to the rest of the body. As a result, the aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). And stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection). These occurrences are a life-threatening medical emergency and such complications can occur without warning and can cause death.

A person with Loeys-Dietz Syndrome, aneurysms and dissections can also occur in arteries other than the aorta.

Features also seen in those with Loeys-Dietz Syndrome may include:

Cardiovascular:

– arteries that twist and wind (arterial tortuosity)

– heart defects at birth (arterial septal defect, patent ductus arteriosis, bicuspid aortic valve)

Eyes, head and neck:

– widely-spaced eyes (hypertelorism)
– white of the eye looks blue or gray
– wide or split uvula (the tissue that hangs down in the back of the throat)
– cleft palate
– instability or malformation of the spine in the neck

Skin:

– easy bruising, wide scars, soft skin texture, and translucent skin (when it looks almost see-through)

Bones:

– club foot (when the foot is turned inward and upward at birth)
– poor mineralization of the bones (osteoporosis) that can make the bones mare likely to break)

Other:

– allergies to food and elements in the environment
– stomach and intestine problems, such as difficulty absorbing food and chronic (comes and goes but never really goes away) diarrhea, abdominal pain, and/or gastrointestinal bleeding and inflammation
– Rupture of the spleen or bowel
– Rupture of the uterus during pregnancy

A person that exhibits any or all of these expression and/or characteristics should consult with a doctor.

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