Imagine, for no apparent reason, you constantly get a fever, aching joints, and small rashes all over your body. These disappear in two or three days, then reappear. If something like this happens to you or your child, the cause may be a rare disease that many people have not even heard of. Today we are talking about one such disease, CAPS.
What does CAPS mean?
Simply put, Cryopyrin-Associated Periodic Syndromes, or CAPS, are a group of very rare genetic diseases that affect our immune system. Normally, our immune system protects us from germs and other diseases. However, in this CAPS condition, due to a defect in the immune system itself, it starts attacking our own body. This is called an 'autoinflammatory disease' in medical science. This causes unnecessary inflammation in the body, causing symptoms such as skin rashes, fever, joint pain and swelling, and red eyes.
There are three main types of CAPS. Let's see what they are.
| Syndrome Name | Description and severity |
|---|---|
| Familial Cold Autoinflammatory Syndrome (FCAS) | This is the least serious of the three types of the disease. As the name suggests, symptoms are triggered by exposure to cold. The main symptoms are fever, joint pain, and skin lesions. It usually does not cause long-term damage to the body. |
| Muckle-Wells Syndrome (MWS) | This is a bit more serious than FCAS. Symptoms can be triggered not only by colds, but also by stress and exercise . Symptoms can be severe, and some people may also experience hearing loss . |
| Neonatal Onset Multisystem Inflammatory Disease (NOMID) | This is the most serious and rare type of this disease. It begins as soon as a child is born. It causes inflammation in many organs of the body. It is also called CINCA. If not treated properly, it can cause serious damage to the brain, eyes, and other organs . |
What causes CAPS?
The main reason for this is a change in a gene in our body. To be precise, this disease is caused by a mutation in the gene called `NLRP3` .
Think of this `NLRP3` gene as a blueprint that instructs our body to make a protein called `cryopyrin`. Normally, this `cryopyrin` protein helps our body produce a substance called `interleukin-1 (IL-1)`, which helps our body fight infections.
But because the `NLRP3` gene in a person with CAPS is mutated, the `cryopyrin` protein also doesn`t work properly. It constantly signals the body to make too much `IL-1`. This excessive production of `IL-1` is what causes unnecessary inflammation in the body and causes the symptoms of CAPS.
This disease can occur if the child inherits the mutated gene from only one parent, either the mother or the father. Sometimes, the gene can change spontaneously in the womb, without the parents.
What are the symptoms?
The main and most common symptom of CAPS is a rash that appears as small, non-itchy blisters all over the body . This is often visible at birth. Some people have these lesions continuously, but they become more severe during flares. Other symptoms vary depending on the type of CAPS you have.
Symptoms that can be seen in FCAS
These symptoms usually last for 1-2 days.
- Fever
- Swollen eyes
- Chills
- Joint pain
- Nausea
- Headache
Symptoms seen in MWS
These symptoms come and go. They can last for 1-3 days at a time.
- Skin rash
- Fever and chills
- Redness of the eyes
- Joint pain
- Severe headache
- Hearing loss (children with MWS may lose all or part of their hearing by the time they reach adulthood)
- Stomach ache
Symptoms seen in NOMID
These are the most serious symptoms.
- Severe headache
- Bulging eyes
- Joint pain and swelling
- Vomiting
- Loss of vision
- Hearing loss
Important: If NOMID is not treated properly, a protein called amyloid can deposit in vital organs like the kidneys and joints, causing serious damage over time.
How to diagnose the disease?
When you see your doctor with these symptoms, he or she will first ask you about your medical history and that of your family. Then, they will examine you and, if necessary, may refer you for some tests, such as:
- Blood and urine tests: These tests look for elevated levels of white blood cells and C-reactive protein, which are indicators of inflammation, and for excess protein in the urine.
- Skin biopsy: A very small sample of your skin is taken and examined under a microscope.
- Genetic test: This test can confirm whether you have a mutation in your NLRP3 gene. However, sometimes people with CAPS may have this gene normally.
- Eye and ear tests: These tests are done to see if your vision or hearing is affected.
- Lumbar puncture: A small amount of spinal fluid is taken from the spinal cord and examined for signs of inflammation.
- MRI scan: This can take detailed pictures of the structures inside the brain and ears to see if there are any changes.
Questions to ask the doctor
It's a good idea to write down some questions you have on paper when you go to see the doctor. That way, you won't forget anything. You can ask questions like these:
- What type of CAPS do I (or my child) have?
- What symptoms might my type of disease cause?
- What treatments do you recommend? How will they help me?
- Are there any side effects of the treatment?
- What can I do at home to reduce symptoms?
- What additional tests should I have done? When should I have them done?
- Do I need to see a genetic counselor?
What are the treatments?
It is very important to start treatment for this disease as soon as possible, because once the eyes, ears, bones, or brain are damaged, it is very difficult to restore them to normal.
The main treatment is drugs that block the body's overproduction of a substance called IL-1. These control inflammation.
- Anakinra (Kineret)
- Canakinumab (Ilaris)
- Rilonacept (Arcalyst)
In addition to these, your doctor may also recommend other treatments, such as:
- Wearing splints for joint pain and swelling
- Physical therapy
- Medications such as NSAIDs, steroids, or methotrexate to reduce fever and inflammation
- Hearing aids for the hearing impaired
- Surgery if the joints are damaged
How can you take care of yourself?
Along with treatment, making small changes to your lifestyle can go a long way in controlling symptoms.
- Avoid cold: If you have a condition like FCAS, cold weather can worsen your symptoms. So try to stay away from things like staying in AC rooms and living in cold areas.
- Reduce stress: Things like meditation, deep breathing exercises, and yoga can help a lot with this.
- Healthy life:
- Sleep well.
- Eat a nutritious diet.
- Avoid smoking, alcohol, and processed foods.
Take-Home Message
- CAPS is a rare, genetic condition caused by a defect in the immune system.
- Its main symptoms are recurring fever, non-itchy skin lesions, and joint pain.
- This is caused by a mutation in the gene called
NLRP3. - It is essential to diagnose the disease and begin treatment as soon as possible to prevent permanent damage to the eyes, ears, and other organs.
- If you or your child has any of these symptoms, never ignore them and consult your doctor immediately for advice.
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