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Frequently Asked Questions
How many people have been diagnosed with LDS?
Approximately 300 to 500 individuals world-wide have been diagnosed with Loeys-Dietz syndrome. New diagnoses are being made around the world at a rapidly increasing rate due to increased awareness and recognition of the medical and physical findings associated with LDS.
Which imaging technique is best to assess for aneurysms?
Both CT with contrast and MRI with contrast can be used to diagnose and monitor aneurysm growth.
Computed Tomography Angiograms (CTA) are scans that can be completed quickly and an entire body scan can be completed within one sitting (depending on the institution where images are obtained). These scans are usually recommended for small children because they can be completed rapidly.
The downside is that CTs expose individuals to radiation. While the CT delivers a relatively low dose of radiation in each scan, its cumulative effect is unknown.
Magnetic Resonance Imaging (MRI) angiograms are beneficial in that they do not expose the patient to any harmful radiation.
The downside to this method is that it takes a considerable amount of time to complete and it requires that an individual remain relatively still throughout the scan, making it less desirable as an option for small children. Another potential drawback is that MRI machines is that a patient's body may not be able to be visualized in one sitting, so multiple scans at different times may need to be obtained. Additionally, because of the time involved, MRIs are more likely to require sedation in some children.
My child was diagnosed with Marfan Syndrome (MFS) or Ehlers Danlos Syndrome (EDS) but he/she has many symptoms that aren't characteristic of either disorder. What should I do?
Since LDS was recently characterized, many individuals have been previously diagnosed with MFS, EDS or an "atypical" variant of either disorder. This is due to the significant overlap of physical and cardiovascular findings. It is important to contact your physician if you feel that you or a relative may fit the criteria for LDS and need to be re-assessed for the appropriate connective tissue disorder diagnosis.
I've been hearing a lot about a drug called Losartan. What is this, and how can it help?
The use of Losartan is a very promising development as a potential treatment for cardiovascular concerns associated with some connective tissue disorders. Losartan is a drug that has been approved by the FDA and is administered to lower blood pressure. In this aspect, Losartan resembles the beta-blockers that may be currently recommended as treatment for individuals with aortic aneurysms. The added benefit and interesting characteristic of Losartan is that it also decreases the amount of TGF-beta activity, which is believed to be increased in individuals with LDS and responsible for causing many of the medical complications found in LDS.
Studies of Losartan's impact on mouse models of LDS have not been performed yet. In mouse models of MFS, Losartan has been shown to decrease TGF-beta activity and halt aortic aneurysm growth. It has also had impact on the respiratory and muscle systems in the MFS mouse models. Impact of Losartan use on individuals with LDS is currently unknown.