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When to Suspect Autoinflammatory Diseases

Autoinflammatory diseases are conditions where your body’s immune system attacks its own cells, causing inflammation. These diseases can be hard to spot because they’re rare, and their symptoms vary greatly. But catching them early and getting the proper treatment can help prevent serious health problems and improve quality of life. Here are some signs that you or your child might have an autoinflammatory disease:

Regular Symptoms

Autoinflammatory diseases often cause symptoms that come and go regularly. These symptoms include fever, rash, joint pain, and stomach pain. If you or your child have these symptoms regularly, it might indicate an autoinflammatory disease.

Family History

If you have family members with an autoinflammatory disease, you might also be more likely to have one. These diseases can be passed down in families

Starting Young

Many autoinflammatory diseases start when you’re a child, but some can begin as an adult. If you or your child have regular symptoms of inflammation, it might be a sign of an autoinflammatory disease.

Not Getting Better

If you or your child have symptoms that don’t improve with standard treatment, it might indicate an autoinflammatory disease. For example, if you have a fever that doesn’t get better with regular fever medicine, it might indicate an autoinflammatory condition.

Triggers

Some autoinflammatory diseases can be triggered by things like cold weather, stress, or even certain medications. If you notice that your symptoms get worse after these kinds of triggers, it might be a sign of an autoinflammatory disease.

Remember, these are just signs that you might have an autoinflammatory disease. If you think you or your child might have one of these diseases, talking to a doctor is essential. They can do tests to find out if you have an autoinflammatory disease and help you get the proper treatment.

Suspecting an Autoinflammatory Disease: What to Do

Autoinflammatory diseases are a group of rare conditions that cause the immune system to attack the body’s own tissues, resulting in inflammation. If you or your child are experiencing symptoms that you suspect may be due to an autoinflammatory disease, seeking medical attention is essential. Here’s what you can expect:

Step 1: Contact Your Family Physician

The first step is to contact your family physician. They know your medical history and can evaluate your symptoms in that context. Describe your symptoms in detail, and don’t hesitate to express your concerns about the possibility of an autoinflammatory disease.

Step 2: Referral to a Specialist

If your family physician suspects an autoinflammatory disease, they will refer you or your child to a specialist, such as a rheumatologist or an immunologist.

This specialist will conduct a more detailed evaluation, which may include a physical examination, medical history review, and various tests.

Step 3: Diagnostic Tests

Diagnostic tests for autoinflammatory diseases include blood, genetic, and imaging studies. These tests help the specialist identify the specific condition and understand its severity.

Step 4: Genetic Counseling and Testing

If a genetic test is recommended, you will receive genetic counseling before and after the test. The genetic counselor will explain the test’s purpose, process, and implications and communicate the results clearly and understandably.

Step 5: Treatment Plan

Once a diagnosis is made, your specialist will develop a treatment plan tailored to your or your child’s specific condition and needs. This plan may include medications, lifestyle changes, and regular followup appointments.

Step 6: Ongoing Management

Autoinflammatory diseases are typically chronic conditions that require ongoing management. This includes regular check-ups with your specialist, taking medications as prescribed and managing symptoms. Remember, you’re not alone in this journey. Resources and support are available to help you navigate the challenges of living with an autoinflammatory disease. Don’t hesitate to ask your healthcare team any questions — they’re there to help.

Dear Parent or Health Care Professional,

If you suspect that a child or patient with recurrent fever may have an autoinflammatory disease, you can schedule an outpatient examination here: