Blau Syndrome: Autoimmune Symptoms in Children and Adults
Medically reviewed by Jonathan B. Jassey, DOMedically reviewed by Jonathan B. Jassey, DOBlau syndrome, otherwise known as early-onset sarcoidosis, is an inflammatory or autoimmune disorder that typically develops before the age of 4. It is a genetic or inherited disease passed down from one parent to a child.The symptoms develop as a triad, affecting the skin, eyes, and joints. The condition can lead to various health issues throughout childhood and adulthood. Since there is no cure, treatments are used to manage it to avoid complications as the disease progresses.
Reproduced with permission from © DermNet dermnetnz.org 2023.
Blau Syndrome Onset in ChildrenBlau syndrome is considered a rare disease. It is degenerative and progressive and can be life-threatening in some cases. It is characterized by the onset of uveitis, granulomatous dermatitis, and arthritis. The symptoms that develop can flare at different times, so a person could be symptom-free sometimes and experience sporadic onsets of inflammation that drive symptoms.Uveitis is swelling and inflammation of the eyes and can lead to symptoms, including:Blurry visionDamage to other parts of the eye that can lead to vision impairment and blindnessEye irritation and painIncreased light sensitivityGranulomatous dermatitis, often the earliest sign of Blau syndrome, affects the skin. Symptoms include:Dry skinHard lumps that can be felt beneath the skinHyperpigmentation (patches of darker skin)Papules (small, raised bumps) on the skinPersistent rashesScales on the skinSkin rednessUlcersThe third presentation is arthritis, which is inflammation of the lining of the joints. It can lead to symptoms including:Swelling in the jointsJoint pain and stiffnessJoint deformitiesErosion of the jointsOther symptoms can also develop, although they are rarer. They affect other organ systems in the body. Rarer symptoms of Blau syndrome include:Inflammation or damage to vital organs, including the liver, kidneys, spleen, brain, lungs and heartInflammation of tissues and glands, including the blood vessels and lymph nodesNeuropathyHigh blood pressureDry mouthFeverAll of these symptoms can make day-to-day life challenging for those who develop Blau syndrome.
Age of OnsetThe signs and symptoms that develop due to Blau syndrome can be detected at birth up to the age of 4. The most common time symptoms surface is between newborn age and two years.
Related: Early-Onset Arthritis: Types, Symptoms, and Treatment
Autoimmune ComponentThe symptoms of Blau syndrome develop because of a genetic mutation. This change in a person's genes negatively affects the protein designed to help the immune system protect the body against foreign pathogens, driving the onset of the syndrome.It is classified as autoimmune because the immune system mistakenly causes inflammation to occur in healthy regions of the body.
The Genetic Mutation That Drives Blau SyndromeMutations in the NOD2 gene are responsible for Blau syndrome. This gene plays a role in producing proteins designed to assist the immune system. Because the gene is faulty, it drives the overproduction of the proteins, which causes an abnormal inflammatory response in the body.
Blau Syndrome in AdultsSince there is no cure for Blau syndrome, treatment is the only option to improve quality of life for people with it. Studies examining disease progression found that, with treatment, roughly 41% of adults will retain their normal function.Mild and moderate impairment is found in 31% and 17% of people living with the syndrome, respectively, and 11% of people living with Blau disease have severe impairment.Overall well-being is also affected, with 48% of adults noting moderate to severe impacts to their well-being and 26% seeing no effect. Chronic pain is also high in those living with Blau syndrome as adults at a rate of 43%.Goal of Blau Syndrome TreatmentTreating Blau syndrome is designed to prevent progression to severe symptoms, such as joint deformation and blindness. Treatments include:CorticosteroidsCorticosteroids are used in high doses to help reduce symptoms of Blau syndrome during flare-ups. These drugs work by producing anti-inflammatory effects.ImmunosuppressantsImmunosuppressants reduce the immune system's action to help reduce inflammation. By keeping the immune system working at a reduced rate, the level of inflammation also goes down.Certain drugs that act as immunosuppressants, known as tumor necrosis factor-alpha (TNF-alpha) inhibitors, may also be used. These drugs stop TNF-alpha from performing its job of causing inflammation.
Related: Benefits and Risks of Immunosuppressive Drugs
Complementary TreatmentsThere are no complementary treatments available for Blau syndrome.Finding an Interdisciplinary Blau Syndrome Care TeamSince Blau syndrome is so rare, affecting less than 1 in 1 million children worldwide, it can be challenging to find a care team. You may need to see several specialists to arrive at a proper diagnosis and treatment.The Genetic and Rare Diseases Information Center (GARD) can help people connect with the right specialists, which could include:DermatologistsGenetic specialistsImmunologistsOphthalmologists PulmonologistsRare disease expertsRheumatologistsEach specialist focuses on treating certain features of Blau syndrome, such as a rheumatologist to manage joint issues and an ophthalmologist for eye care.
Advocating for Your ChildWorking with a multidisciplinary care team and combine approaches of care for Blau syndrome can be overwhelming. Also, because it’s a rare disease, it may be challenging to get a proper diagnosis quickly.It’s important to understand as much as possible about the disease and continue to advocate for your child’s symptoms and the appropriate tests so that you can find the best possible care team and ensuing treatment.
Blau Syndrome Flares and Trigger ManagementThe symptoms that develop in Blau syndrome are not typical in newborns, so it’s important to note when symptoms occur. Once a diagnosis is reached, watch for flares by gauging your child’s symptoms daily. That way, you can stay on top of any worsening symptoms and contact a healthcare provider when necessary. It’s possible to achieve remission, but it’s not always common, as symptoms can persist even with treatment.
Related: Why Autoimmune Diseases Affect More Women Than Men
SummaryBlau syndrome is a rare disease that develops in early infancy. It can cause a range of painful and debilitating symptoms in children and continues to progress as people age. In some cases, early treatment and diagnosis of Blau syndrome can delay the damage it causes, and close to half of all adults with Blau syndrome have only mild cases of the syndrome.Treatment using corticosteroids and immunosuppressants is available to keep symptoms at bay in people living with Blau syndrome, but they do not cure the disease. People living with the syndrome will have to keep a watchful eye on symptom flare-ups and see a healthcare provider if their medication stops working or experience a flare. Read the original article on Verywell Health.
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