Living with Lymphedema-cerebral arteriovenous anomaly syndrome
An extremely rare inherited condition with a brain blood vessel difference, foot swelling, and high blood pressure in the lung arteries.
Understanding Lymphedema-cerebral arteriovenous anomaly syndrome
These features occur in varying combinations. It has been described in a woman and four of her children. GARD notes no further descriptions in medical papers since 1986. It begins in the teen years.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes these features:
- Brain blood vessel malformation
- Swelling of the feet from lymph fluid (lymphedema)
- High blood pressure in the lung arteries (primary pulmonary hypertension)
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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 listed as autosomal dominant, which means one changed copy of a gene is enough. GARD does not name a gene.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lymphedema-cerebral arteriovenous anomaly syndrome.
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