Physician guide
Help your doctor see Blau syndrome clearly.
Blau syndrome is extremely rare, and many physicians, even experienced specialists, have never seen a case. This downloadable guide helps you onboard your provider quickly, with the essential information they need to recognize, diagnose and manage Blau syndrome with confidence.
Why it matters
Blau is often mistaken for something else.
Without a clear picture of the disease, children can spend months or years being treated for the wrong condition. The guide gives your provider a concise clinical snapshot in one visit.
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Who wrote it
The guide is authored using insights from leading Blau experts, including Dr. Carlos Rose and Dr. Carine Wouters, based on the Foundation’s international roundtable discussions.
What's included
Eight topics, one short document.
Your physician will find a high-level overview of each of the following.
- What is Blau syndrome?
- Genetic cause
- Classic clinical triad
- Expanded systemic involvement
- Diagnostic workup
- Treatment overview
- Monitoring recommendations
- Resources and contact information
How to use it
Print it or email it before your next appointment.
We recommend that families print or email this guide to their primary doctor, pediatrician, rheumatologist or ophthalmologist.
Found a doctor who understands Blau?
Tell us about them so other families can find knowledgeable care.
Every dollar, every hour, every voice matters.
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