As Loeys-Dietz syndrome (LDS) can affect individuals in different ways, treatment for LDS differs from person to person. It is recommended that you talk with a medical professional about your individual health concerns and options for treatment and management.
Loeys-Dietz syndrome can produce symptoms throughout the whole body and is best managed with a multidisciplinary team of medical professionals.
This team may include a primary care provider, cardiologist, orthopedist, clinical geneticist, ophthalmologist, cardiothoracic surgeon, mental health professional, and any other specialists needed to treat a patient’s symptoms.
In addition to a collaborative team of specialists, patients benefit from a care coordinator who can advocate for the patient and organize and track specialist care. Depending on the level of care needed and the available health care services, the care coordinator may be a primary care provider, a genetics professional, the patient, or the patient’s parent or caregiver.
Treatment and Care for Loeys-Dietz Syndrome
Medication can be used to lower blood pressure and heart rate in order to reduce stress on the body’s arteries (blood vessels carrying blood from the heart to the body) and aorta (an artery attached to the heart). Many people with LDS take classes of medication known as angiotensin receptor blockers (ARBs) (Losartan, Candesartan, Irbesartan, etc.) and beta-blockers (Atenolol, Propanolol, Metoprolol, etc). In research studies, ARBs have been shown to decrease aneurysm growth in mice with LDS. Medications should generally be taken at optimal titration (a personalized dose that aims to maximize the medication’s beneficial effects and minimize its side effects) and continued after vascular surgery.
The goal of vascular imaging is to spot and monitor aneurysms and dissections (ruptures in arteries). It is recommended that the aorta is imaged each year by echocardiogram, and that the head to pelvis (head, neck, chest, pelvis, and abdomen) is imaged after diagnosis by CTA (computed tomography angiogram) or MRA (magnetic resonance angiogram). People with LDS should then be imaged from head to pelvis at least once every two years. As there are some small arteries in the head and neck that may be difficult to monitor by MRA, individuals who receive MRA imaging should also regularly receive CTA imaging after a few MRAs. Individuals should meet with a cardiologist who can evaluate the growth rate and size of aneurysms and recommend a personalized imaging frequency.
X-ray imaging of the cervical spine in extension and flexion positions is recommended before surgery, intubation, or neck manipulation. If the X-ray detects cervical spine instability or abnormalities, an orthopedist should be consulted and, in rare cases, cervical spine fusion surgery may be needed to join vertebrae together.
Vascular surgery is performed in individuals with LDS to repair circulatory system manifestations. It is widely recommended as a preventative surgery for LDS patients with rapidly enlarging arteries (blood vessels that carry blood from the heart to the rest of the body), rapidly enlarging aorta (a candy cane-shaped artery that starts at the top of the heart and ends in the abdomen), or pronounced family history of arterial dissection. Preventative or prophylactic vascular surgery aims to prevent arterial dilations/aneurysms (abnormal bulges in arteries) from growing larger and dissecting (growing large enough to tear the artery). Vascular surgery is also performed in emergency situations, such as in the case of arterial dissections. Read more about the types of vascular surgery and tips for patients and parents.
Exercise restrictions aim to lessen the strain on the cardiovascular system, minimize growth of aneurysms, and avoid dissections. Individuals with LDS are encouraged to perform aerobic exercises (such as swimming, jogging, hiking, and biking) in moderation. A moderate level of activity means that you could have a conversation while exercising and can help to reduce blood pressure and heart rate and improve mental health and mood. It is recommended that individuals with LDS avoid: exercising to the point of exhaustion; muscle straining from bodyweight exercises (push-ups, sit-ups, and chin-ups) and weight lifting; competitive and contact sports; and movements that hyperextend joints or cause joint injury or pain. A cardiologist can use these guidelines to further explain the type and intensity of exercise that is appropriate for each individual.
Orthopedic treatment for LDS includes bracing, casting, stretching, orthotics, and orthopedic surgery. Read more about surgery for clubfoot, pectus carinatum, and pectus excavatum.
Individuals with Loeys-Dietz syndrome are more likely than the general population to have an allergic disease such as a food allergy, environmental allergy, eczema, asthma, eosinophilic esophagitis, and eosinophilic gastritis. Treatment varies depending on the individual and condition, but may include limiting exposure to triggers of food and environmental allergies and asthma. Eczema may be treated with moisturizers, medications, and changes in diet and lifestyle. Anaphylactic (severe) reactions should be treated immediately with an epinephrine injector and a call to emergency medical services like 911. Because of its effect on the circulatory system, an epinephrine injector should only be used to treat anaphylactic reactions or life-threatening symptoms (not mild symptoms) in people with LDS. Ask your cardiologist and/or allergist about exactly when to use an epinephrine injector. Allergy-related gastrointestinal symptoms include abdominal pain, diarrhea, feeling like food is stuck in the throat, and struggling to put on and maintain weight. Individuals may need treatment with medication and/or a feeding tube.
About Loeys-Dietz Syndrome. Loeys-Dietz Syndrome Foundation. (n.d.). Retrieved October 11, 2022, from https://www.loeysdietz.org/en/medical-information#treatment
Caffrey, A. R., & Borrelli, E. P. (2020). The art and science of drug titration. Therapeutic Advances in Drug Safety, 11, 204209862095891. https://doi.org/10.1177/2042098620958910
Gouda, P., Kay, R., Habib, M., Aziz, A., Aziza, E., & Welsh, R. (2022). Clinical features and complications of Loeys-Dietz Syndrome: A systematic review. International Journal of Cardiology, 362, 158–167. https://doi.org/10.1016/j.ijcard.2022.05.065
Loeys, B. L., & Dietz, H. C. (2008, February 28; updated 2018 March 1). Loeys-Dietz Syndrome. GeneReviews. Retrieved October 11, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1133/.
Loeys-Dietz Syndrome: Allergies. Loeys-Dietz Syndrome Foundation. (n.d.). Retrieved October 11, 2022, from https://static1.squarespace.com/static/5be355670dbda39d591a525e/t/6222b1c31c636258a8c1f654/1646440902459/LDSF_AllergyRevised_Design+Update+3.4.22.pdf
MacCarrick, G., Black, J. H., Bowdin, S., El-Hamamsy, I., Frischmeyer-Guerrerio, P. A., Guerrerio, A. L., Sponseller, P. D., Loeys, B., & Dietz, H. C. (2014). Loeys–Dietz Syndrome: A primer for diagnosis and management. Genetics in Medicine, 16(8), 576–587. https://doi.org/10.1038/gim.2014.11
Zaleska. (2022, August 18). Have eczema? How your diet may play a role. Cleveland Clinic Health Essentials. Retrieved October 11, 2022, from https://health.clevelandclinic.org/eczema-diet/?utm_source=feedotter&utm_medium=email&utm_campaign=FO-11-03-2021&utm_content=httpshealthclevelandclinicorgeczemadiet&mkt_tok=NDM0LVBTQS02MTIAAAGAi0vfOnlXY-4cUOjP_rE6BQzQyEHHkBTX5l_6VSE7oY6oybjBUu0qKH5dXGZ5zDHQSNxPLoG5TscRb_DukOdQ05K0iC7lSwL1agAl_Wi4eNRjM6E