Blau Syndrome
Description
Blau Syndrome is a rare, inherited disorder that causes chronic inflammation in multiple parts of the body, primarily affecting the joints, eyes, and skin. This condition, often manifesting in early childhood, can be challenging but with appropriate management, individuals can lead fulfilling lives.
Genes Involved
Blau Syndrome is caused by mutations in the NOD2 gene. This gene plays a crucial role in the immune system‘s response to bacterial infections. Mutations in NOD2 disrupt this normal function, leading to chronic inflammation.
Recognizing the Signs and Symptoms
The symptoms of Blau Syndrome typically appear in early childhood, but can sometimes manifest later in life. Key signs include:
- Joint inflammation: This is often the first symptom, causing pain, swelling, and stiffness in multiple joints, especially knees, ankles, and wrists.
- Uveitis: Inflammation of the middle layer of the eye (uvea) leads to eye pain, redness, sensitivity to light, and blurred vision.
- Skin lesions: These can range from rashes to inflammatory nodules, commonly seen on the face, arms, and legs.
- Fever: Persistent low-grade fever is common, particularly during active periods of inflammation.
- Fatigue: Chronic inflammation can lead to persistent fatigue and tiredness.
- Other potential symptoms: Some individuals may experience inflammation in other organs, such as the lungs, intestines, or heart, although this is less common.
Causes
Blau Syndrome is caused by genetic mutations in the NOD2 gene. These mutations are inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene from either parent is enough to cause the disease. Individuals with Blau Syndrome have a 50% chance of passing on the mutated gene to their children.
Inheritance/recurrence risk
The inheritance pattern for Blau Syndrome is autosomal dominant. This means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. If one parent has Blau Syndrome, each of their children has a 50% chance of inheriting the mutated gene and developing the disease.
