Living with Aneurysm-osteoarthritis syndrome
A rare genetic condition with aneurysms and twisting of arteries throughout the body, plus joint arthritis that starts early.
Understanding Aneurysm-osteoarthritis syndrome
Arteries can bulge (aneurysms), twist (tortuosity), or tear (dissection) throughout the body. Osteoarthritis starts early, mostly in the spine, hands or wrists, and knees. People may also have mild facial differences, mild bone and skin differences, and heart differences such as mitral valve defects and atrial fibrillation. It can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Aneurysms in the arteries
- Twisted arteries (arterial tortuosity)
- Tears in artery walls (arterial dissection)
- Early osteoarthritis
- Leaking of the aortic valve
- Cleft or split uvula
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 and genetic specialists.
- 3Consider genetic testing
Changes in SMAD3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); 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
Changes in the SMAD3 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: aneurysms-osteoarthritis syndrome; loeys-dietz syndrome type 3; loeys-dietz syndrome with osteoarthritis; smad3-related loeys-dietz syndrome; smad3-related thoracic aortic aneurysms and aortic dissections
Patient organizations
- Loeys-Dietz Syndrome FoundationAneurysm-osteoarthritis syndrome · United States
- The Marfan FoundationAneurysm-osteoarthritis syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Aneurysm-osteoarthritis syndrome.
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