What Is Loeys-Dietz Syndrome?
Loeys-Dietz syndrome is a genetic disorder that affects connective tissue. Connective tissue protects, supports and gives structure to all other tissues and organs in the body.
Most people with Loeys-Dietz syndrome inherit it, meaning it is passed down from parent to child. But sometimes it occurs spontaneously, with no prior history in the family.
The disorder is caused by a change (variant) in one of several genes and can cause problems in multiple body systems. Depending on what parts of the body are affected, Loeys-Dietz syndrome can cause life-threatening complications.
What Are the Symptoms of Loeys-Dietz Syndrome?
The symptoms of Loeys-Dietz syndrome can vary widely, even among members of the same family. Some people have symptoms early in life, while others don't develop any signs until adulthood.
Craniofacial Effects
People with Loeys-Dietz syndrome often have distinctive features of the face and head:
- Blue tinge in the whites of the eyes
- Submucous cleft palate (a hole in the roof of the mouth underneath the skin)
- Early fusion of the skull bones (craniosynostosis)
- Eyes that are widely spaced or slant downwards
- Small or receding chin
- Split or broad uvula (small piece of skin that hangs down in the back of the throat)
Effects on the Cardiovascular System
Loeys-Dietz syndrome can affect the heart and blood vessels. It can enlarge the aorta, the main blood vessel that carries blood from the heart to the rest of the body. Aortic enlargement can lead to a bulge (aneurysm) or tear (dissection) in the aorta. Other blood vessels in the body can also be affected including those in the head, neck, abdomen, and pelvis.
Many people with Loeys-Dietz syndrome have arterial tortuosity (twisted arteries) and heart valve defects.
Effects on the Musculoskeletal System
Loeys-Dietz syndrome can affect the bones in several ways:
- Breastbone grows inward or outward (pectus excavatum or carinatum)
- Clubfoot or flat foot
- Contractures in the fingers (tightening of muscle, tendons, ligaments or skin)
- Curved spine (scoliosis)
- Long fingers and toes
- Loose joints
- Osteoarthritis
- Spine instability
Effects on the Skin
The syndrome may lead to certain features in the skin, such as:
- Abnormal scarring
- Easy bruising
- Frequent hernias
- Translucent skin (seems see-through)
- Very soft or velvety skin
Effects on the Ocular System
Loeys-Dietz syndrome often affects vision:
- Detached retina, which can cause permanent vision loss
- Eye muscle disorders
- Nearsightedness
- Problems with the eye muscles
Other Side Effects of Loeys-Dietz Syndrome
In some people, Loeys-Dietz syndrome also might cause:
- Food or environmental allergies, sometimes severe
- Gastrointestinal disease
- Hollow organs that can rupture (for example, intestine, uterus and spleen)
Diagnosis of Loeys-Dietz Syndrome
Because symptoms of Loeys-Dietz syndrome be life-threatening condition, early diagnosis and treatment are critical.
If you are evaluated for Loeys-Dietz syndrome at Penn, you'll have:
- Physical exam and medical history: We ask you detailed questions about your medical history and family medical history. Then we do a thorough exam to look for features of Loeys-Dietz syndrome.
- Angiogram: This test looks closely at the arteries to detect aneurysms or arterial tortuosity.
- Echocardiogram (echo): This test uses ultrasound waves to take pictures of the heart to look for structural defects.
- Eye exam: We will examine your eyes for any abnormalities.
- Imaging tests: Computed tomography (CT) scans and magnetic resonance imaging (MRI) can take detailed pictures inside your body. This can help evaluate your spine and other structures.
- Genetic testing and counseling: A special genetic test evaluates the genes involved in Loeys-Dietz A genetic specialist can help you determine whether you or your family members should get genetic testing. Anyone having genetic testing should also have genetic counseling. A trained counselor can help you understand the process and what it might mean for you and your family.
Loeys-Dietz Syndrome Treatment at Penn
There's no cure for Loeys-Dietz syndrome, but treatment can help you live a long and full life. An essential part of treatment is monitoring certain body systems over time to catch any problems early.
Depending on how the condition affects you, treatment may include:
- Allergy testing and management of eating issues due to allergies
- Braces, orthotics or surgery for a curved spine, foot deformities or hip dislocations
- Genetic counseling to make sure any affected relatives receive early diagnosis and treatment
- Medications to lower heart rate and blood pressure, lessen strain on the aorta and arteries, and help prevent aneurysm
- Recommendations for lifestyle changes, such as restrictions on exercise
- Regular eye exams, including corrective procedures when necessary
- Regular imaging tests to check the aorta, arteries and spine
- Surgery called aortic root replacement to prevent tears in the aorta
The Penn network has experts in every medical subspecialty. They work as a team to provide complete care for any effects of Loeys-Dietz syndrome. Your Penn Medicine team may include experts in:
Penn Programs & Services for Loeys-Dietz Syndrome
Inherited cardiac disease affects multiple generations. The Penn Center for Inherited Cardiovascular Disease provides comprehensive care for genetic heart conditions.
Our team of specialists treats more people with aortic disease than any other center in the area.