Living with Loeys-Dietz syndrome
An inherited connective tissue condition that mainly enlarges the aorta and can affect the skeleton, face, and skin.
Understanding Loeys-Dietz syndrome
The aorta, the main blood vessel from the heart, can enlarge, bulge (aneurysm), or tear (dissection). Arteries elsewhere may also be affected. Skeletal differences can include early fusing of skull bones, scoliosis, and chest wall differences. There are five types, and signs may appear anytime from childhood through adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bulge in the aorta wall (aortic aneurysm)
- Tear in an artery wall (dissection)
- Twisting arteries (arterial tortuosity)
- Split uvula (bifid uvula)
- Cleft palate
- Asthma
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
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists and genetic specialists.
- 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
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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 caused by changes in genes, and the five types are distinguished by their genetic cause. It can be inherited in an autosomal dominant or autosomal recessive way.
Also known as: aortic aneurysm syndrome due to tgf-beta receptors anomalies; lds
Patient organizations
- Loeys-Dietz Syndrome FoundationLoeys-Dietz syndrome · United States
- The Marfan FoundationLoeys-Dietz syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Loeys-Dietz syndrome.
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