Conditions
Loeys-Dietz syndrome (LDS)
A genetic condition of connective tissue that can affect the aorta and other arteries, the bones and joints, the skin and the face.
About Loeys-Dietz syndrome
Loeys-Dietz syndrome is a genetic condition that affects connective tissue. Connective tissue is the material that supports and holds the body together. The condition comes from changes in one of several genes. These genes help control a signal, called TGF-beta, that guides how tissues grow.
It can affect the aorta and other arteries anywhere from the head to the pelvis. It can also affect the bones and joints, the skin, the face and the roof of the mouth. Some people also have allergies, asthma, eczema or stomach and bowel problems. Signs can differ a lot, even within one family.
There are no agreed clinical criteria for Loeys-Dietz syndrome, and a genetic test plays a central role. Common tests include an ultrasound of the heart (echocardiogram), an MRI or CT scan of the blood vessels from head to pelvis, an eye exam and a genetic test. Some features overlap with Marfan syndrome and vascular Ehlers-Danlos syndrome, so clinicians check for those too.
Who usually evaluates it: Often a clinical geneticist or genetic counselor, working with a heart doctor (cardiologist) and an eye doctor (ophthalmologist).
What you can record in Selihc Health
- Heart ultrasound and blood vessel scan reports, and what they mention
- Genetic test reports and the genes they name
- Past problems such as a cleft palate, clubfoot at birth, skull bones that joined early, or neck bone problems
- Allergies, asthma, eczema, and stomach or bowel conditions
- Your own checks of your skin, fingers, chest and the whites of your eyes, labeled as self-reported
- Relatives with Loeys-Dietz syndrome or with aorta or artery problems
What only a clinician can do
- Measuring the aorta and other arteries on scans and deciding what the measurements mean
- Examining the face, mouth, skin, joints and spine
- Deciding what a genetic test result means
- Checking for conditions that look similar, such as Marfan syndrome and vascular Ehlers-Danlos syndrome
In an emergency
Call 911 right away for sudden, severe pain in the chest, back, belly or neck, especially pain that feels sharp, tearing or ripping, or that moves. Also call 911 for fainting, sudden trouble breathing, or signs of a stroke such as a drooping face, a weak arm or trouble speaking. Do not drive yourself.
Call 911 right away for signs of a stroke: a drooping face, a weak or numb arm or leg, especially on one side, sudden trouble speaking or understanding, sudden trouble seeing, sudden trouble walking or loss of balance, or a sudden, very bad headache with no known cause.
Call 911 right away for sudden shortness of breath, or sharp chest pain that gets worse with a deep breath. This can be a collapsed lung. Do not drive yourself.
Call an eye doctor right away, or go to an emergency room, for sudden flashes of light, a shower of new floaters, or a shadow or curtain over part of your vision.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Loeys-Dietz syndrome: suggestive findings and molecular diagnosis (GeneReviews, 2024 update)
Loeys BL, Dietz HC. Loeys-Dietz Syndrome. In: Adam MP, Bick S, Mirzaa GM, et al., eds. GeneReviews. University of Washington, Seattle; 1993-2026. Initial posting 28 Feb 2008; last comprehensive update 12 Sep 2024. PMID 20301312.
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This page is general information written for patients, not medical advice. Content is a draft awaiting clinical review.
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