Table of ContentsView AllTable of ContentsOnset in ChildrenBlau Syndrome in AdultsTreatmentFinding a Care TeamFlare and Trigger Management
Table of ContentsView All
View All
Table of Contents
Onset in Children
Blau Syndrome in Adults
Treatment
Finding a Care Team
Flare and Trigger Management
Blau syndrome, otherwise known as early-onsetsarcoidosis, is an inflammatory orautoimmune disorderthat 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 © DermNetdermnetnz.org2023.
Blau Syndrome Onset in Children
Uveitis is swelling and inflammation of the eyes and can lead to symptoms, including:
Granulomatous dermatitis, often the earliest sign of Blau syndrome, affects the skin. Symptoms include:
The third presentation isarthritis, which is inflammation of the lining of the joints. It can lead to symptoms including:
Other symptoms can also develop, although they are rarer. They affect other organ systems in the body. Rarer symptoms of Blau syndrome include:
All 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.
Age of Onset
The 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.
Early-Onset Arthritis: Types, Symptoms, and Treatment
Autoimmune Component
The 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 foreignpathogens, driving the onset of the syndrome.
It is classified as autoimmune because the immune system mistakenly causesinflammationto 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.
The Genetic Mutation That Drives Blau Syndrome
Mutations 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.
Since 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 painis also high in those living with Blau syndrome as adults at a rate of 43%.
Goal of Blau Syndrome Treatment
Treating Blau syndrome is designed to prevent progression to severe symptoms, such as joint deformation and blindness. Treatments include:
Corticosteroids
Immunosuppressants
Immunosuppressants 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 asimmunosuppressants, known astumor necrosis factor-alpha(TNF-alpha) inhibitors, may also be used. These drugs stop TNF-alpha from performing its job of causing inflammation.
Benefits and Risks of Immunosuppressive Drugs
Complementary Treatments
There are no complementary treatments available for Blau syndrome.
Finding an Interdisciplinary Blau Syndrome Care Team
Since 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 seeseveral specialiststo 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:
Each specialist focuses on treating certain features of Blau syndrome, such as a rheumatologist to manage joint issues and anophthalmologistfor 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.
Advocating for Your Child
Working 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.
Working 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 Management
Why Autoimmune Diseases Affect More Women Than Men
Summary
Blau 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.
10 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.American Academy of Ophthalmology.What is uveitis?Dermnet.Granulomatous dermatitis.Shmerling RH.Patient education: Arthritis (Beyond the Basics). UpToDate.MedlinePlus.Blau syndrome.Cure Blau Syndrome Foundation.What is blau syndrome?Kumrah R, Pilania RK, Menia NK, et al.Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India.Front Immunol.2022 Sep 15;13:932919. doi:10.3389/fimmu.2022.932919National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center.Blau syndrome.Rosé CD, Pans S, Casteels I, et al.Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.Rheumatology (Oxford).2015 Jun;54(6):1008-16. doi:10.1093/rheumatology/keu437Caso F, Galozzi P, Costa L, et al.Autoinflammatory granulomatous diseases: From Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn’s disease.RMD Open.2015 Jul 20;1(1):e000097. doi:10.1136/rmdopen-2015-000097Lassoued Ferjani H, Kharrat L, Ben Nessib D, et al.Management of Blau syndrome: review and proposal of a treatment algorithm.Eur J Pediatr.2024 Jan;183(1):1-7. doi:10.1007/s00431-023-05204-9
10 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.American Academy of Ophthalmology.What is uveitis?Dermnet.Granulomatous dermatitis.Shmerling RH.Patient education: Arthritis (Beyond the Basics). UpToDate.MedlinePlus.Blau syndrome.Cure Blau Syndrome Foundation.What is blau syndrome?Kumrah R, Pilania RK, Menia NK, et al.Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India.Front Immunol.2022 Sep 15;13:932919. doi:10.3389/fimmu.2022.932919National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center.Blau syndrome.Rosé CD, Pans S, Casteels I, et al.Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.Rheumatology (Oxford).2015 Jun;54(6):1008-16. doi:10.1093/rheumatology/keu437Caso F, Galozzi P, Costa L, et al.Autoinflammatory granulomatous diseases: From Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn’s disease.RMD Open.2015 Jul 20;1(1):e000097. doi:10.1136/rmdopen-2015-000097Lassoued Ferjani H, Kharrat L, Ben Nessib D, et al.Management of Blau syndrome: review and proposal of a treatment algorithm.Eur J Pediatr.2024 Jan;183(1):1-7. doi:10.1007/s00431-023-05204-9
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
American Academy of Ophthalmology.What is uveitis?Dermnet.Granulomatous dermatitis.Shmerling RH.Patient education: Arthritis (Beyond the Basics). UpToDate.MedlinePlus.Blau syndrome.Cure Blau Syndrome Foundation.What is blau syndrome?Kumrah R, Pilania RK, Menia NK, et al.Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India.Front Immunol.2022 Sep 15;13:932919. doi:10.3389/fimmu.2022.932919National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center.Blau syndrome.Rosé CD, Pans S, Casteels I, et al.Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.Rheumatology (Oxford).2015 Jun;54(6):1008-16. doi:10.1093/rheumatology/keu437Caso F, Galozzi P, Costa L, et al.Autoinflammatory granulomatous diseases: From Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn’s disease.RMD Open.2015 Jul 20;1(1):e000097. doi:10.1136/rmdopen-2015-000097Lassoued Ferjani H, Kharrat L, Ben Nessib D, et al.Management of Blau syndrome: review and proposal of a treatment algorithm.Eur J Pediatr.2024 Jan;183(1):1-7. doi:10.1007/s00431-023-05204-9
American Academy of Ophthalmology.What is uveitis?
Dermnet.Granulomatous dermatitis.
Shmerling RH.Patient education: Arthritis (Beyond the Basics). UpToDate.
MedlinePlus.Blau syndrome.
Cure Blau Syndrome Foundation.What is blau syndrome?
Kumrah R, Pilania RK, Menia NK, et al.Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India.Front Immunol.2022 Sep 15;13:932919. doi:10.3389/fimmu.2022.932919
National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center.Blau syndrome.
Rosé CD, Pans S, Casteels I, et al.Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.Rheumatology (Oxford).2015 Jun;54(6):1008-16. doi:10.1093/rheumatology/keu437
Caso F, Galozzi P, Costa L, et al.Autoinflammatory granulomatous diseases: From Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn’s disease.RMD Open.2015 Jul 20;1(1):e000097. doi:10.1136/rmdopen-2015-000097
Lassoued Ferjani H, Kharrat L, Ben Nessib D, et al.Management of Blau syndrome: review and proposal of a treatment algorithm.Eur J Pediatr.2024 Jan;183(1):1-7. doi:10.1007/s00431-023-05204-9
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