Does your baby often have unexplained fevers? This could be due to SAIDs (Systemic Autoinflammatory Diseases)!

Does your little one get a fever all the time? Sometimes they get a fever once or twice a month, but the doctors say that there is no infection, that is, no virus or bacteria in the body. At such times, as a mother or father, you are very reasonable to feel a lot of fear and anxiety. "Why is this happening to my child?" You have probably thought a thousand times. Perhaps the reason for this is something you have not heard of before. Today, we will talk about SAIDs (Systemic Autoinflammatory Diseases), which are difficult to understand and can cause frequent fevers. In the past, these were called `(Periodic Fever Syndromes)` or `(Recurrent Fever Syndromes)`.

What are these SAIDs (Systemic Autoinflammatory Diseases)?

Simply put, SAIDs are a group of diseases that occur due to a malfunction or control problem in our body's natural immune system . What happens is that, without any external cause, that is, a virus or bacteria, the body simply creates inflammation. That is why this frequent fever comes.

Now you might be thinking, "Oh, is this one of those Autoimmune Diseases?" No, these two are a little different. In Autoimmune Diseases, for example, in diseases like Rheumatoid Arthritis or Lupus, our body's adaptive immune system mistakenly attacks its own healthy cells. But in SAIDs, the problem lies with the innate immune system.

SAIDs are much rarer than Autoimmune Diseases. Most of the time, these are hereditary , meaning they are caused by a genetic mutation or variant.

These SAIDs usually (but not always) start when your child is a baby or toddler . The child will have episodes or attacks of the disease at certain times. During these episodes, the fever and other symptoms may appear. However, between these "attacks," the child may be symptom-free. There is no cure for SAIDs, but there are often effective treatments to control the symptoms.

What are the main types of SAIDs?

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

• 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 usually starts in young children, usually before the age of 4. However, in some children, this condition may go away after the age of 10.
• Tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS): This can occur from childhood to adolescence, and sometimes into adulthood.
• Mevalonate kinase deficiency (MKD): Previously known as Hyper-IgD syndrome, this usually begins before the child is one year old.
• NLRP3-associated autoinflammatory diseases: This was previously called Cryopyrin-associated periodic syndromes (CAPS). There are three other subtypes within this.
• Adult-onset Still's disease (AOSD): As the name suggests, this disease begins in adulthood. It is the adult form of a condition called systemic juvenile idiopathic arthritis (JIA).
• NOD-2-associated granulomatous disease (Blau syndrome): This also usually begins before the age of 4. It mainly affects the child's skin, eyes, and joints.

What are the symptoms of SAIDs?

Symptoms of SAIDs usually begin in early childhood. The main and most common symptom is periodic or episodic fever . As mentioned earlier, the child may be fine during periods when there is no fever. However, there are other symptoms that are specific to each type of SAID:

• In FMF: The child's abdomen, chest, and joints may become very painful and swollen. Sometimes, there may be a skin rash on the lower legs or ankles.
• In PFAPA: Sore throat, mouth ulcers, swollen lymph nodes in the neck. These are the main symptoms.
• In TRAPS: The body may become cold and feverish. The child may have muscle pain in the torso and arms. A painful red rash may appear, which may spread from the arms to the legs and then to the body.
• In MKD: You may experience flu-like symptoms such as chills, headache, stomach ache, loss of appetite, and other symptoms.
• In NLRP3 diseases: skin rashes, headaches, malaise, joint pain, and eye inflammation (conjunctivitis) may occur.
• In AOSD: skin rashes, joint pain, muscle pain. Some people may also experience sore throat, stomach pain, fatigue, and a feeling of weakness.
• In Blau syndrome: The baby may develop skin lesions on the arms, legs, or midsection. They may also experience joint pain and eye pain.

Imagine, Nalini's little daughter has been having a high fever for three to four days every month for the past few months. Along with that, she's also developing small sores in her mouth and lumps on her neck. When she showed it to a doctor, he said it could be PFAPA.

What are the causes of SAIDs?

Most SAIDs are genetic diseases . This means that each of these syndromes is caused by a variation in our genes. Here are the most common types of SAIDs and the genes that affect them:

• FMF: The gene called `(MEFV)`. This gene instructs the production of the protein `(pyrin)`.
• PFAPA: The exact gene that affects this has not yet been identified.
• TRAPS: The gene called `(TNFRSF1A)`. This is where the instructions for making the protein `(tumor necrosis factor receptor - TNFR)` come from.
• MKD: The gene `(MVK)`. This instructs the production of a protein called `(mevalonic kinase)`.
• NLRP3 diseases: The gene called `(NLRP3)`. This provides instructions for making a protein called `(cryopyrin)`.
• AOSD: The exact reason for this is still unknown.
• Blau syndrome: The gene `(NOD2)`. This instructs the production of the protein `(NOD2)`.

The details of these genes may seem a bit complicated to you. Simply put, these genes affect the production of certain proteins that control inflammation in our bodies. That's why the body creates inflammatory conditions for no reason.

What can happen if SAIDs are not treated properly?

It is very important to get proper treatment for these SAIDs. Because if the inflammation in the body continues, a condition called `(amyloidosis)` can occur. This means that a type of protein is deposited in our kidneys, which can cause permanent damage to the kidneys . Therefore, if there are symptoms, it is very important to seek medical advice without ignoring them.

How do doctors diagnose SAIDs?

Diagnosing SAIDs can be challenging because the symptoms can be similar to those of other serious conditions, such as lupus or lymphoma. Therefore , it is best to see a rheumatologist, a doctor who has special training in inflammatory diseases , to accurately diagnose and manage your child's condition.

Your child's rheumatologist will look at several things to diagnose SAIDs. He or she will ask you about your child's symptoms and whether anyone in your family has a history of frequent colds. The doctor may suspect this condition if:

• If the child has frequent fever .
• If anyone in the family has a history of frequent fevers .
• If the child belongs to an ethnic group that is more likely to experience frequent fevers like this.

What tests are used?

To confirm the diagnosis, your child's rheumatologist may recommend several tests. Some of these include:

• Lab tests: Blood tests such as `(C-reactive protein - CRP)` and `(Complete blood count - CBC)` can check for inflammation in the body. These tests are `(positive)` when you have a fever and return to normal when the fever subsides.
• Urine test: The urine is checked for high levels of protein. In cases of MKD, the urine is also checked for high levels of an organic acid called ``mevalonic acid''.
• Genetic testing: Genetic testing can detect the genetic variants mentioned above. However, some children with SAIDs may not have the genetic variants detected, so the test results may be negative.

What are the treatments for SAIDs?

Treatment for SAIDs depends on the type and severity of the condition . There is no cure for these conditions, but medications can help control your child's symptoms . If your child has these attacks only a few times a year, you can usually relieve the symptoms with painkillers and nonsteroidal anti-inflammatory drugs (NSAIDs). However, if the condition is more severe, your doctor may recommend other treatments:

• FMF: This can be treated with a medicine called `(Colchicine)` to reduce inflammation. If `(Colchicine)` cannot be given to the child, you can try a `(biologic)` type of medicine called `(Canakinumab)`.
• PFAPA: Steroids such as prednisone can shorten the duration of a PFAPA "attack." Cimetidine, a medicine given to some children for stomach ulcers, can also help relieve symptoms.
• TRAPS: The drug `(Canakinumab)` is very effective for TRAPS. Also, the symptoms can be controlled with anti-inflammatory drugs such as `(glucocorticoids)` prescribed by the doctor.
• MKD: `(Canakinumab)` is also an effective treatment for MKD. `(NSAIDs)` or `(steroids)` can help during an "attack".
• NLRP3 diseases: Immunomodulators such as Canakinumab, Rilonacept, and Anakinra have been successfully used to treat NLRP3-related diseases.
• 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.

Reading about these medications may make you feel a little scared. But remember, all of these medications are given under the strict supervision of a doctor, in a way that is best suited to the child. Therefore, it is important to follow the treatment exactly as the doctor says.

Is SAIDs status going away?

Some SAIDs 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 attacks may decrease and the symptoms may become less severe. Your doctor will explain the specifics of your child's condition to you.

Caring for a child with SAID can be challenging. If you have SAID yourself, you can use your experience to help with your child's care. Your understanding is also important in helping your child live with this lifelong condition.

The most important thing is to seek treatment from experienced doctors who are knowledgeable about SAIDs. They can help manage your child's symptoms and help them have the best possible childhood.

The most important things to remember (Take-Home Message)

Okay, so let's recap some of the key points you need to remember from what we've talked about:

• If your child has frequent, unexplained fevers , it could be a sign of SAID.
• SAIDs are not caused by an infection , but rather a problem with the body's own immune system.
• These are rare diseases that are often caused by genetic causes .
• Symptoms may vary depending on the type of SAID, but frequent fever is the main symptom .
• It is important to see a Rheumatologist for a correct diagnosis and treatment.
• Although treatment cannot completely cure the disease, the symptoms can be well controlled .
• Don't ignore symptoms, as they can lead to kidney damage if left untreated.

If you have any further questions about this, don't hesitate to talk to your family doctor or a rheumatologist. They will be able to help you further.

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