Treatment

Treatment Philosophies for Loeys-Dietz Syndrome

An individualized approach

Treatment and management differ from person to person because LDS can affect individuals in different ways.

Multidisciplinary care

Loeys-Dietz syndrome can produce symptoms throughout the whole body. With multidisciplinary care, medical specialists from different disciplines can address different areas of the body.

Team members

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.

Care coordinator

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. 

Shared decision-making

Shared decision-making between medical professionals, patients, and families is key.

It considers the patient’s needs and wants, helps the patient and family to understand the condition and treatment options, and is particularly important for events such as surgery or pregnancy.

It is recommended that you talk with a medical professional about your individual health concerns and options for Loeys-Dietz syndrome treatment and management. 

Types of Treatment and Management for Loeys-Dietz Syndrome

Medication

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.

Learn more here: Loeys-Dietz Syndrome and Medication

Vascular Imaging

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. 

Cervical Spine Imaging

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

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

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 (at a level where you could have a conversation during the activity). Exercise can be beneficial to people with LDS as it 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
  • 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. 

Learn more about exercise and Loeys-Dietz syndrome

Orthopedics

Orthopedic treatment for LDS includes bracing, casting, stretching, orthotics, and orthopedic surgery. Read more about surgery for clubfoot, pectus carinatum, and pectus excavatum

Allergies

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. 

Family Planning

Family planning empowers individuals to determine the number of children they wish to have. It is vital that you reach out to a medical professional at the pre-conception stage in order to assess your health and discuss options.

The Family Planning with LDS booklet is a comprehensive resource designed to empower individuals and families with the knowledge they need to make informed choices. It goes beyond the basics, addressing specific aspects related to Loeys-Dietz syndrome and family planning, pregnancy, delivery, and postpartum care.
 
What’s Inside?
 
  • What is Family Planning?
    • An introduction to the concept and importance of family planning.
  • Loeys-Dietz Syndrome & Pregnancy
    • A deep dive into the intersection of LDS and the journey of pregnancy.
  • Preconception Checklist
    • Practical steps to consider before conception, ensuring a well-prepared journey.
  • Maternal Medical Assessments
    • Understanding the medical assessments crucial for maternal health during pregnancy.
  • Common LDS Medications During Pregnancy
    • Insights into medications commonly used in LDS and how they are managed during pregnancy.
  • Maternal Risks & Offspring Considerations
    • A thoughtful exploration of the risks and considerations during pregnancy.
  • Pregnancy Checklist
    • Practical steps to consider throughout each trimester.
  • Delivery Logistics
    • Guidance on navigating the logistics of delivery with Loeys-Dietz syndrome.
  • Postpartum
    • Guidance for navigating the postpartum period.
  • Surrogacy
    • Exploring the option of surrogacy and its considerations.
  • Fertility Preservation
    • Insights into preserving fertility for those with LDS.
  • IVF, IVM & IUI
    • An overview of assisted reproductive technologies and their relevance.
  • Adoption
    • Considerations and insights for those exploring the path of adoption.

How to Get Your Copy

This invaluable resource is available for free download here.

References

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 

Isselbacher E, Preventza O, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease. J Am Coll Cardiol. 2022 Dec, 80 (24) e223–e393.https://doi.org/10.1016/j.jacc.2022.08.004

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

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