Physician Guide

Blau Syndrome is extremely rare, and many physicians — even experienced specialists — have never seen a case. It’s often mistaken for juvenile idiopathic arthritis (JIA), sarcoidosis, or autoimmune eye disease. This downloadable guide is designed to help you onboard your provider quickly, giving them the essential information they need to recognize, diagnose, and manage Blau Syndrome with confidence.

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We recommend that families print or email this guide to their primary doctor, pediatrician, rheumatologist, or ophthalmologist. It provides a concise clinical snapshot and is authored using insights from leading Blau experts, including Dr. Carlos Rose and Dr. Carine Wouters, based on our international roundtable discussions.

📘 What’s Included in the Guide:

Your physician will find a high-level overview of the following:

• What is Blau Syndrome?

• Genetic Cause

• Classic Clinical Triad

• Expanded Systemic Involvement

• Diagnostic Workup

• Treatment Overview

• Monitoring Recommendations

• Resources & Contact Information
   

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