People with Loeys-Dietz syndrome features need to see a doctor who knows about the condition to decide if they have the disorder; often this will be a medical geneticist. It is very important that people with Loeys-Dietz syndrome get an early and correct diagnosis so they can get the right treatment.
WHAT CAUSES LDS? Loeys-Dietz syndrome (type 1-5) is caused by a genetic mutation in one of five genes that encode for the receptors and other molecules in the transforming growth factor-beta (TGF-β) pathway. These genes are:
KEY FEATURES? Because connective tissue is found throughout the body, Loeys-Dietz syndrome features can occur throughout the body, too, including the heart, blood vessels, bones, joints, skin, and internal organs such as the intestines, spleen, and uterus. One of the key features of Loeys-Dietz syndrome is an enlargement of the aorta, the large blood vessel that carries blood from the heart to the rest of the body. The aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection). This is a life-threatening complication that can occur without warning. In Loeys-Dietz syndrome, aneurysms and dissections also can occur in arteries other than the aorta.
Cardiovascular:
Arteries that twist and wind (arterial tortuosity)
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 more 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