August is the awareness month for autoinflammatory diseases. In a press release, Jurgita Sabaliauskienė, a rheumatologist at Kaunas Clinics specializing in rare and complex connective tissue diseases, talks about the characteristics, origins, and main differences of these diseases from autoimmune conditions.
What are autoinflammatory diseases and how do they differ from autoimmune diseases?
Autoinflammatory diseases are disorders caused by an improperly activated innate immune system. Normally, this system is the first to respond to infections or tissue damage, but in autoinflammatory diseases, inflammation arises without a clear cause. In such cases, it does not perform a protective function and can damage tissues and organs.
The main difference between autoinflammatory and autoimmune diseases lies in the different mechanisms of the immune system. In autoimmune diseases, the immune system mistakenly recognizes the body’s own tissues or organs as foreign and attacks them. In contrast, in autoinflammatory diseases, the inflammatory response activates on its own—as if the body is defending itself against a danger that does not actually exist.
However, there is no strict boundary between autoinflammation and autoimmunity. The innate and adaptive immune systems closely interact, so in some cases, a patient may exhibit signs of both conditions.
What symptoms should prompt someone to see a doctor for a possible autoinflammatory disease?
The most common symptom is recurrent fever. Skin rashes, joint pain, abdominal or chest pain, and eye damage may also occur. In rarer cases, the nervous system, blood vessels, lungs, or hearing may be affected.
In autoinflammatory diseases, fever often recurs at similar intervals and lasts for a similar duration. Such fever occurs without a runny nose or cough, similar symptoms do not appear in other family members, and antibiotic treatment is ineffective.
It is important to emphasize that neither recurrent fever nor other isolated symptoms necessarily indicate an autoinflammatory disease. Suspicion arises from the combination of these symptoms, especially when other possible causes are ruled out.
Do these diseases have symptom flare-ups and periods when the person feels well?
Yes, many autoinflammatory diseases are characterized by recurring flare-ups, between which the patient feels well. These episodes usually recur almost identically—the patient experiences very similar symptoms, and their duration is similar.
However, not all autoinflammatory diseases have an episodic course. In some forms, inflammatory activity persists between flare-ups. In such cases, even without symptoms, blood tests may show elevated inflammation markers.
Which autoinflammatory diseases are most commonly diagnosed in children and adults?
The spectrum of autoinflammatory diseases is broad. Some are hereditary and manifest in early childhood, but some diseases may first appear at an older age.
In children, one of the most common causes of recurrent non-infectious fever is PFAPA syndrome. It is characterized by recurring fever episodes, mouth mucosal ulcers, pharyngitis, and enlarged neck lymph nodes. Among hereditary autoinflammatory diseases, familial Mediterranean fever is the most common.
Autoinflammatory disease in adults may be diagnosed due to a milder form of the disease that was not recognized in childhood, or because some diseases—adult-onset Still’s disease, Schnitzler syndrome, and VEXAS syndrome—first appear only in adulthood.
Why are these diseases sometimes difficult to diagnose and how long can it take to establish an accurate diagnosis?
Diagnosing autoinflammatory diseases is challenging because most of them are very rare, and their symptoms are not unique to these diseases. Diagnosis is complicated by the episodic nature of the disease—between flare-ups, the person may feel well, and test results may normalize. Additionally, symptoms of different diseases may overlap.
For these reasons, it can sometimes take several years from the first symptoms to an accurate diagnosis. International data show that patients with some hereditary autoinflammatory diseases wait on average from 2 to 6 years for a correct diagnosis.
What tests help to identify autoinflammatory disease and confirm the diagnosis?
Diagnosis of autoinflammatory diseases is based on a combination of clinical signs, laboratory, and genetic tests. First, doctors need to rule out infectious, oncological, and other diseases that can cause similar symptoms.
When establishing a diagnosis, careful consideration is given to the age at which the first symptoms appeared, how often and how long fever or inflammation episodes last. The patient’s ethnic background and information about similar illnesses in the family are also important.
Additional laboratory, microbiological, and other necessary tests are selected individually for each patient, depending on their symptoms. The final diagnosis is made by evaluating the overall clinical picture, test results, and excluding other possible causes of symptoms.
What can be the long-term consequences for a patient’s health if autoinflammatory diseases are untreated or insufficiently controlled?
Prolonged active inflammation gradually damages various organs and tissues—it can impair vision, hearing, joint, lung, or nervous system function.
The greatest threat is one of the main complications—AA amyloidosis. During this condition, amyloid—a protein substance—accumulates in tissues and can gradually damage kidney function. This risk is especially significant for patients with familial Mediterranean fever, TRAPS, or CAPS syndromes.
How are autoinflammatory diseases treated today and what results can be achieved with modern treatment?
In recent years, treatment options for autoinflammatory diseases have greatly expanded. Today, treatment can target specific mechanisms of inflammation spread. Biological therapy allows suppression of certain substances involved in the inflammatory process, helping to control the disease. For acute symptoms, nonsteroidal anti-inflammatory drugs, colchicine, or hormonal preparations are sometimes also used.
The goal of treatment is to achieve long-term inflammation control and prevent irreversible organ damage. With appropriate treatment, in many cases, the frequency of flare-ups can be reduced, and in some diseases, long-term remission and improved quality of life can be achieved.
Can a person with autoinflammatory diseases live a full life, and what is most important for patients and their relatives to know?
It is important for patients to learn to recognize disease flare-ups and know when to see a doctor. In some diseases, inflammatory activity may persist even without obvious symptoms, so regular medical supervision is necessary. Since some autoinflammatory diseases are hereditary, genetic counseling and family member testing may also be important.
An autoinflammatory disease does not necessarily have to limit a person’s life. With timely diagnosis and appropriate treatment, many patients can live an active and full life.
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