Living with Loeys-Dietz syndrome 1
A genetic condition that affects blood vessels, bones, face, skin, and the immune and digestive systems.
Understanding Loeys-Dietz syndrome 1
Blood vessel problems include enlarged, weakened arteries (aneurysms) and tears (dissections) in the brain, chest, or belly. Bone and joint features include chest wall differences, curved spine, and loose joints. The skin may be soft, thin, bruise easily, and scar unusually. Allergies, asthma, and digestive inflammation are more common. Features vary widely, even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Aortic root aneurysm
- Tear in the aorta wall (aortic dissection)
- Twisting arteries (arterial tortuosity)
- Split uvula (bifid uvula)
- Bulging eyes
- Clubfoot
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Loeys-Dietz Syndrome Foundation and The Marfan Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Loeys-Dietz Syndrome Foundation, The Marfan Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Loeys-Dietz Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is inherited in an autosomal dominant way, which means one changed copy of a gene is enough. GARD does not name a gene for this listing.
Also known as: aortic aneurysm, familial thoracic 5; furlong syndrome; lds1; loeys-dietz syndrome caused by mutation in tgfbr1; loeys-dietz syndrome type 1; tgfbr1 loeys-dietz syndrome
Patient organizations
- Loeys-Dietz Syndrome FoundationLoeys-Dietz syndrome 1 · United States
- The Marfan FoundationLoeys-Dietz syndrome 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Loeys-Dietz syndrome 1.
Explore research for Loeys-Dietz syndrome 1
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- Eligibility is confirmed by the study team
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