Loeys-Dietz Syndrome is a rare, genetic connective tissue disorder that shares some features with Marfan Syndrome. Like Marfan Syndrome, people with Loeys-Dietz syndrome can have changes affecting their heart, bones, joints, skin, eyes, blood vessels and internal organs. We would like to raise awareness of Loeys-Dietz Syndrome, to allow more people with this syndrome to gain a diagnosis and appropriate management of the condition.

Many individuals with Loeys-Dietz Syndrome are the first in their family to have the condition, and therefore it is likely to be underdiagnosed in the population.

There are four main characteristics often seen together in Loeys-Dietz syndrome, that are not typically seen together in other connective tissue disorders such as Marfan Syndrome. These are:

1)    Aneurysms – an aneurysm is a widening or dilation of an artery. This is most often seen in the aortic root- where your aorta (the large blood vessel that carries blood from the heart to the rest of the body) meets the heart.

2)    Arterial tortuosity- twisting or spiralling arteries.

3)    Hypertelorism - widely spaced eyes

4)    Bifid (split) or broad uvula- the uvula is the small piece of flesh that hangs down from the back of the mouth

However, not all patients with the syndrome will have all four of these characteristics, and people with the condition can have a wide range of symptoms. More information on these can be found at: https://www.loeysdietz.org/en/medical-information

Based upon the success of our Marfan Syndrome support group, we would like to create a support group for patients either diagnosed with Loeys-Dietz syndrome, or those who suspect they might have the condition. This group would allow people to reach out with any questions they might have regarding their condition, or to seek assistance with getting a diagnosis. We are also aiming to create patient webinars for our support group, to allow patients to speak to experts about Loeys-Dietz syndrome.

For more information on Loeys-Dietz Syndrome, there are several helpful resources. Examples include the Loeys-Dietz Syndrome Foundation Canada: http://www.loeysdietzcanada.org and the Marfan Foundation: https://marfan.org/conditions/loeys-dietz/.

If you have any questions regarding the support group, or if you have a diagnosis of Loeys-Dietz syndrome and would like to complete our questionnaire, please email [email protected] for further information.

The Marfan Trust is registered in England and Wales under charity number 328070 at c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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