If you suspect you may have Loeys-Dietz Syndrome you should visit your GP as soon as possible.
Loeys-Dietz Syndrome is often misdiagnosed as atypical Marfan Syndrome or Vascular EDS. If there is a suspicion of Loeys-Dietz Syndrome from clinical findings you should be referred directly to a geneticist for confirmation of the diagnosis. Currently in Ireland Loeys-Dietz Syndrome is largely unknown, so it is vital to attend a geneticist. In the interim, the GP should order an urgent Echo and also an MRA (MRI with Contrast)/CT Angiogram scan of head to abdomen to firstly confirm the dimensions measured in the Echocardiogram and also to look for Arterial Torturosity (twisting of the arteries) and any other aneurysms that may be present outside of the Aorta.
Loeys-Dietz can be genetically tested and should initially be carried out on the person with the strong suspicion of having the condition and then on immediate relatives if it is positive.
There is no cure for Loeys-Dietz Syndrome. Thankfully there are successful treatment options for almost all complications which can help minimize the risks involved and also help prolong the patients life. All treatment must be discussed in depth with your relevant doctor/consultant to a programme that benefits you. The following information is a guide only.
Cardiovascular System – Regular (annual) heart examinations are important for patients with Loeys-Dietz Syndrome. If on an Echocardiogram examination it is found that there is enlargement in any part of the aorta, the Cardiologist may prescribe blood pressure lowering medication. This reduces the pressure of the blood going out of the heart and therefore reduces the amount of stress placed on the aorta. Thus medication may help to slow down or stop the growth of the aorta. Sometimes however there comes a point where surgery is required. If possible, surgery should be performed before the aorta gets to a critical stage where it is at risk of dissection. Cardiologists advice should be followed for any invasive procedure following surgery to ensure risk of a heart infection called Endocarditis is avoided (more particularly in patients with artificial valves). Patients should immediately attend their local Accident & Emergency if they experience sudden onset of chest pain, back pain or abdominal pain.
Skeletal System – It is particularly important monitor closely the skeletal system especially the spine and chest bone in children. Any changes in the spine or chest bone may need bracing or corrective surgery, especially if they are having an effect on the heart and lungs.
Vascular System – Following initial MRA, depending on presence or otherwise of aneurysms outside the aorta, a plan should be drawn up with the Cardiologist regarding regular monitoring of the vascular system from head to abdomen. It is generally advised not to leave interval any longer than 3-5 years between MRA scans. If an aneurysm is present these are advised on an annual basis.
There is no specific treatment for Dural Ectasia to date, but pain medication may be prescribed to help with the symptoms.
An XRay should be carried out to check for neck instability. This is vital to have confirmed prior to surgery.
Loeys-Dietz Syndrome is still a relatively new condition and therefore its history is undefined. It is therefore extremely important that all patients with Loeys-Dietz Syndrome educate themselves and their medical teams about the condition and keep up to date with guidelines for treatment. Primarily, as mentioned above, it is extremely important to keep check on both the aorta and vascular system for aneurysms on a regular basis. Loeys-Dietz Syndrome is considered much more aggressive to Marfan Syndrome so the diagnosis and treatment are vital.
Patients with Loeys-Dietz Syndrome are advised not to partake in strenuous activities or sports. Contact or competitive sports should be avoided; as should lift/pulling heavy weights. Recommended activities include walking, gentle cycling, and swimming. General guidelines are that the patient should be able to talk without being out of breath while walking/cycling.