Living with Loeys-Dietz Syndrome: Answers to Your Top Questions

These Frequently Asked Questions (FAQ) are a compilation of questions we commonly receive through our support groups and Help Center. The questions cover a wide range of topics related to Loeys-Dietz Syndrome (LDS) and are aimed at providing clear, reliable information to those affected by the condition. Each answer has been carefully reviewed and provided by our expert team, including our Chief Science Officer, Help and Resource Center Director, LDS Director, and Dr. Hal Dietz. We hope this document helps you better understand LDS and helps you better manage the condition.

• In general, can people with Loeys-Dietz Syndrome receive CPR? Are there occasions when CPR is not recommended?

  The American Heart Association (AHA) guidelines emphasize that the prompt initiation of CPR is crucial for improving survival and neurological outcomes in cardiac arrest, regardless of the underlying cause. This includes cases where aortic dissection is suspected. The potential harm from CPR in a patient who has been incorrectly identified as having cardiac arrest is low, and the benefits of initiating CPR outweigh the risks.

• Are people with Loeys-Dietz Syndrome eligible for Social Security benefits?

  Eligibility for Social Security Disability benefits depends on the severity of an individual’s features, how they impact daily functioning, and the ability to work –  but not the actual condition itself.  That is because Loeys-Dietz syndrome (LDS) affects each person differently. While some individuals may be able to work until retirement, others may face significant challenges that prevent them from joining or remaining in the workforce.

  If you are considering applying for Social Security Disability Insurance (SSDI), we encourage you to start by watching our webinar on Social Security Disability, available at the following link: https://www.youtube.com/watch?v=EGEak2ZnMXs&t=882s

• I was told my LDS is “dormant” or inactive. What does this mean?

  While the severity of signs and symptoms can vary widely among individuals with LDS, the condition itself doesn't go away or become dormant or inactive. In some cases, signs or symptoms may seem less pronounced or may stabilize for a time, but the underlying genetic mutation that causes LDS remains present. It's crucial for individuals with LDS to maintain ongoing care to manage risks, especially related to vascular issues.

  In some forms of LDS (e.g. types 4 or 5) some family members can appear entirely unaffected despite inheriting the causal mutation from an affected parent. This is called nonpenetrance. A child of this apparently unaffected individual who inherits the same mutation can go on to show the signs and symptoms of LDS. This situation is sometimes called a “skipped generation”. The basis for this is not entirely understood. The apparently unaffected mutation carrier should continue to receive imaging surveillance because important features such as aortic root enlargement can show up later in life.

• Phenotype and genotype—If I don’t have prominent physical characteristics, should I still be concerned about my condition?

  Loeys-Dietz syndrome (LDS) presents with a wide range of signs and symptoms, and while some individuals have prominent physical features (like widely spaced eyes, cleft palate, or skeletal abnormalities), others may not. However, the most serious concerns with LDS are vascular issues, such as aneurysms and arterial dissections, which can occur even in individuals who don’t have obvious external features.

  If you have been diagnosed with LDS or suspect you have it, it’s extremely important to stay proactive about your health. Regular monitoring by a cardiologist or vascular specialist, including imaging of your arteries (such as echocardiograms, MRIs, or CT scans), is crucial to assess any potential risks. Even without outward characteristics, the internal complications of LDS can still be present and even severe.

• When do I (or does my child) need to start taking medication?

  For most individuals, medications should be started for a patient with Loeys-Dietz syndrome (LDS) as soon as the diagnosis is confirmed. The American College of Cardiology and the American Heart Association recommend that treatment with an angiotensin receptor blocker (ARB) or a beta blocker, or both, in maximally tolerated doses, is reasonable for patients with LDS, unless contraindicated. This approach aims to both reduce hemodynamic stress and to normalize altered biochemical activity in the aortic wall, thus mitigating the risk of aortic aneurysm enlargement and dissection.

• What medications should I avoid? I hear different things from different community members, and I am not sure what is safe for me.

  In general, medications that can stimulate the cardiovascular system and increase heart rate and/or blood pressure should be avoided in people with a vascular connective tissue disorder, if possible. Many decongestants (e.g. pseudoephedrine, phenylephrine) are also cardiovascular stimulants, and while brief intermittent use will likely be tolerated, routine or prolonged use can be problematic. Choose a cold medication designed for people who have high blood pressure (it will indicate this on the label). Antihistamines (e.g. Benadryl, Zyrtec, Claritin, Allegra and Clarinex), cough suppressants (e.g. dextromethorphan), and expectorants (e.g. guaifenesin) are considered safe when used at the appropriate interval and dose. Some antihistamines are marketed in a combined form with a decongestant (e.g. Claritin-D), and should be avoided for prolonged use in LDS.  

  A class of antibiotics called fluoroquinolones (e.g. Cipro (ciprofloxacin), Levaquin (levofloxacin), Factive (gemifloxacin) and Avelox (moxifloxacin) have been associated with an increased risk of aortic aneurysm or tear. The use of these medications should be avoided in individuals with vascular connective tissue disorders unless there is no alternative to treat a serious infection.

  NSAIDS, such as Ibuprofen or Naproxen, are generally considered safe for intermittent use at the recommended interval and dose in people with vascular connective tissue disorders. Caution is strongly advised in people with LDS who are at increased risk for gastrointestinal bleeding including those with chronic gastrointestinal inflammation or taking anticoagulants.  

What Specialists should I prioritize seeing to manage LDS?

• Cardiologist

  • Why? LDS affects the aorta and arteries, increasing the risk of aneurysms and dissections.

  • What they do? Monitor your aorta and arteries with imaging (echocardiograms, CT scans, MRIs) and manage aneurysm risk with medications.

• Geneticist

  • Why? LDS is a genetic condition. A geneticist can confirm the diagnosis, explain inheritance patterns, and recommend screening for family members. Geneticists also commonly consider the entire spectrum of issues for individuals with a given diagnosis, as opposed to an individual organ system.

• Cardiothoracic Surgeon

  • Why? If imaging shows aortic aneurysm or vascular complications, they help determine whether surgery is needed and what intervention should be used.

• Vascular Surgeon

  • Why? If imaging shows aneurysms or vascular complications outside of the chest, they help determine whether surgery is needed and what intervention should be used.

Other Important Specialists

• Orthopedic Specialist

  • Why? Many with LDS experience joint hypermobility, scoliosis, cervical spine instability, and flat feet, among other skeletal features.

  • What they do? Monitor and treat bone/joint problems.

• Gastroenterology

  • Why? LDS can cause many gastrointestinal problems, including inflammation, gastroesophageal reflux (GERD), swallowing or feeding issues, chronic diarrhea or constipation, and poor weight gain.

  • What they do? Diagnose, monitor and treat gastrointestinal problems.

• Ophthalmologist

  • Why? LDS can cause eye problems such as myopia, strabismus, and retinal detachment.

  • What they do? Diagnose, monitor and treat eye problems.

• Allergist/Immunologist

  • Why? LDS can be associated with many different allergic or inflammatory conditions.

    • Eosinophilic esophagitis (EoE) is an inflammation of the esophagus caused by an overabundance of specific white blood cells. Food allergies are thought to be one cause of the condition. Among the symptoms of eosinophilic esophagitis are heartburn, chest pain and difficulty swallowing. An Allergist/Immunologist or Gastroenterologist may treat EoE.

  • What they do? Identify and manage allergic reactions or immune dysfunction. This can sometimes include recommendations regarding exposures or foods to avoid. Occasionally powerful modulators of the immune system are used to control inflammation.

• Otolaryngologist (ENT Specialist)

  • Why? LDS can cause cleft palate, recurrent sinus infections, upper respiratory and hearing issues.

  • What they do? Treat airway problems, palate issues, and chronic infections.

• Dentist/Orthodontist

  • Why? LDS can affect jaw structure, palate shape, and dental crowding and the quality of tooth enamel.

  • What they do? Diagnose, monitor and treat dental issues.

• Neurosurgeon (if needed)

  • Why? Some individuals have cervical spine instability or aneurysms or tears in blood vessels in the central nervous system.

  • What they do? Diagnose and manage cervical spine and cerebrovascular issues.

• Pain Specialist

  • Why? Some individuals with LDS have chronic pain including musculoskeletal pain

  • What they do? Diagnose the source of pain and help to identify a safe and effective treatment plan.

Need help finding a specialist? Reach out to our Help and Resource Center to see if they have a recommendation for someone local to you.