Does your little one have a persistent fever? This could be due to SAIDs (Systemic Autoinflammatory Diseases)!

Does your child often get a fever ? Does the fever come without any reason, that is, without a virus or bacteria ? Then perhaps it is very important for you to know about these diseases called SAIDs that we are talking about today. Don't worry, we will talk about this simply, in a way that you can understand.

What are SAIDs (Systemic Autoinflammatory Diseases)?

Simply put, SAIDs are a group of diseases that are caused by a defect or regulation problem in our body's innate immune system . This is characterized by recurring fevers without any infection, that is, without anything like a virus or bacteria entering the body. Previously, this condition was called `Periodic Fever Syndromes` or `Recurrent Fever Syndromes`.

Now you might be wondering if this is an autoimmune disease like Rheumatoid Arthritis or Lupus. No, these two are a little different. In autoimmune diseases, the adaptive immune system that develops later in our body malfunctions and attacks healthy cells. But in SAIDs, the problem lies with the innate immune system.

These conditions, called SAIDs, are much rarer than autoimmune diseases. They are often hereditary, meaning they are caused by a genetic mutation. Things caused by genetic mutation / variant).

Often, SAID symptoms begin when your child is a baby or toddler . Your child will have episodes or attacks of the disease. During these episodes, other symptoms may appear along with the fever. However, your child may be completely symptom-free during periods when the disease is not severe. Although there is currently no cure for SAID, there are treatments that can help control the symptoms and provide relief for your child.

What types of SAIDs are there?

Researchers have identified about 60 types of SAIDs so far, and more are being discovered. Here are some of the most common types of SAIDs:

• Familial Mediterranean fever (FMF): This is the most common of the genetically determined, recurrent fever syndromes. It can cause painful swelling in the child's abdomen, chest, and joints.
• Periodic fever, aphthous-stomatitis, pharyngitis, adenitis (PFAPA): This condition usually affects young children before the age of 4. Symptoms may disappear after the age of 10.
• Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): This can occur in childhood, adolescence, or adulthood.
• Mevalonate Kinase Deficiency (MKD): Previously known as Hyper-IgD syndrome, this condition usually begins before a child is 1 year old.
• NLRP3-associated autoinflammatory diseases: Previously known as Cryopyrin-associated periodic syndromes (CAPS), there are three distinct subtypes of this disease.
• Adult-onset Still's disease (AOSD): This is a condition that begins in adulthood. It is similar to the adult form of a condition called systemic juvenile idiopathic arthritis (JIA).
• Blau Syndrome - NOD-2-associated granulomatous disease: This usually begins before the age of 4. It mainly affects the child's skin, eyes, and joints.

How do these symptoms manifest?

Symptoms of SAIDs usually begin in childhood. The main and most common symptom of this condition is periodic or episodic fever. During periods of mild illness, people are usually asymptomatic. However, each type of SAID can present with different symptoms.

Think about it this way,

• A child with FMF may experience severe pain with swelling in the abdomen, chest, and joints. There may also be a rash on the lower legs or ankles.
• A child with PFAPA may have a sore throat, mouth sores, and swollen lymph nodes in the neck.
• A child with TRAPS may experience chills, muscle pain in the torso and arms, and a painful red rash that starts in the arms and legs and spreads to the trunk.
• A child with MKD may experience chills, headaches, stomach pain, loss of appetite, and flu-like symptoms.
• In the NLRP3 group of diseases, symptoms such as skin rashes, headaches, malaise, joint pain, and conjunctivitis / pink eye can be seen.
• A person with AOSD may experience skin rashes, joint pain, and muscle pain. Some may also experience a sore throat, stomach pain, fatigue, and malaise.
• A baby with Blau syndrome may develop a skin rash on the arms, legs, or trunk. They may also experience joint pain and eye pain.

What are the causes of SAIDs?

Many SAIDs are genetic diseases . This means that a mutation (variant) in a specific gene causes each syndrome. Here are the genes that cause several of the most common types of SAIDs:

• FMF: The gene `MEFV`. This instructs how to make a protein called `pyrin`.
• PFAPA: The exact reason is not known.
• TRAPS: The gene `TNFRSF1A`. This instructs how to make a protein called `(tumor necrosis factor receptor - TNFR)`.
• MDK: The gene called `MVK`. This instructs how to make a protein called `mevalonic kinase`.
• NLRP3 diseases: The gene called `NLRP3`. This instructs how to make a protein called `cryopyrin`.
• AOSD: The exact reason is not known.
• Blau syndrome: The gene `NOD2`. This instructs how to make the protein `NOD2`.

What complications can this cause?

It is very important to get proper treatment in such a condition. Because, if inflammation continues in the body, it can cause a condition called ``amyloidosis``. This means that a type of protein can be deposited in your kidneys, causing permanent damage to the kidneys. Therefore, it is essential to take care of this.

How do doctors diagnose this?

In fact, diagnosing SAIDs can be a bit of a challenge, as the symptoms can be similar to other serious conditions like lupus and cancers like lymphoma. Therefore, it is important to see a doctor who is trained in inflammatory diseases, such as a rheumatologist, to accurately diagnose and manage your child's condition.

Your child's rheumatologist will use several factors to diagnose SAIDs. He or she will ask about your child's symptoms and whether anyone in your family has these conditions (biological family history). The doctor may suspect periodic fever syndrome if:

• If the child has frequent fevers.
• If anyone in the family has a history of recurring fevers.
• If the child belongs to an ethnic group that frequently experiences this type of fever.

What tests are used?

Your child's rheumatologist may recommend several tests to confirm the diagnosis. These may include:

• Lab tests: Tests such as `(C-reactive protein - CRP)` or `(complete blood count - CBC)` can be used to check for inflammation in the body. These tests are ``positive`` when the disease is severe, and return to normal when the disease subsides.
• Urine test: A urine protein test can be done to check for high levels of protein in the urine. In MKD, a urine test for organic acids (acids containing one carbon atom) will show elevated levels of mevalonic acid.
• Genetic testing: Genetic testing can detect genetic variants. However, some children with SAIDs may not have the genetic variant detected. Therefore, the test results may be negative.

What are the treatments for SAIDs?

Treatment for SAIDs varies depending on the type and severity of the condition. Although these conditions cannot be cured completely, medications can usually help control your child's symptoms. If your child has flare-ups only a few times a year, painkillers and anti-inflammatory drugs, such as nonsteroidal anti-inflammatory drugs (NSAIDs), can usually help. However, if the condition is more severe, your doctor may suggest other treatment options. These include:

• FMF: This can be controlled with a drug called `colchicine`. This reduces inflammation. If you can't take `colchicine`, you can try a `biologic` drug called `canakinumab`.
• PFAPA: PFAPA flare-ups can be shortened with steroids (usually prednisone). In some children, cimetidine, a medicine used to treat stomach ulcers, can also help control symptoms.
• TRAPS: The drug `Canakinumab` is an effective treatment for `TRAPS`. Also, anti-inflammatory medications such as `glucocorticoids` prescribed by doctors can help control symptoms.
• MKD: `Canakinumab` is an effective treatment option for `MKD`. The use of `NSAIDs` or `steroids` may also be helpful during exacerbations.
• NLRP3 diseases: Canakinumab and other immunomodulators such as rilonacept and anakinra have been successfully used to treat diseases that fall under the NLRP3 category.
• AOSD: Various anti-inflammatory medications, such as steroids, disease-modifying anti-rheumatic drugs (DMARDs), and biologics, are used to treat AOSD.
• Blau syndrome: Depending on the child's symptoms, immunosuppressants, tumor necrosis factor (TNF) inhibitors, and/or topical eye medications may be tried.

Will SAIDs get better over time? Or will they persist?

Some autoinflammatory diseases are lifelong conditions . Others may last for a few years and go away with age. Some conditions are lifelong, but over time, the frequency of flare-ups may decrease and the symptoms may become milder. You can ask your doctor for specific details about your child's condition.

Indeed, raising a child with an `autoinflammatory` disease can be challenging. Perhaps if you have SAID yourself, you can use your personal experience to better help your child's care. And your experience will be useful in helping your child cope with this potentially lifelong disease.

It is important to seek treatment from specialists who are well-versed in the intricacies of SAIDs. These doctors can help manage your child's symptoms and help them have the best possible childhood.

The most important thing for you to remember (Take-Home Message)

Okay, so let's remind you of some of the most important points from what we've talked about:

• If your child has frequent, unexplained fevers , seek medical advice. Don't dismiss them as normal.
• SAIDs are a group of diseases caused by an inborn problem with the immune system , often with a genetic link.
• These are different and rarer than autoimmune diseases.
• Symptoms may vary depending on the type of SAID, but the main symptom is periodic fever.
• It is important to see a specialist, such as a rheumatologist, for an accurate diagnosis.
• Although SAIDs cannot be completely cured, medications can help control symptoms and help the child live a normal life.
• It is essential to seek proper medical treatment, as complications such as amyloidosis can occur if left untreated.

Don't worry, you're not alone. There are doctors and organizations that can help children and families living with these conditions. The most important thing is to get the right advice and treatment as soon as possible.

` Fever, SAIDs, Systemic Autoinflammatory Diseases, Periodic Fever Syndromes, Immune System, Genetic Diseases, Fever in Children