For physicians
As a family physician, you play a crucial role in the early identification and management of autoinflammatory diseases. While rare, these conditions can significantly impact a patient’s quality of life, making early detection and treatment essential.
When to Suspect Autoinflammatory Diseases
Autoinflammatory diseases are a group of conditions characterized by recurrent episodes of inflammation, often with a significant periodicity. These diseases can be challenging to diagnose due to their rarity and the variability of their symptoms. However, early recognition and appropriate management can prevent longterm complications and improve quality of life. Here are some key indicators that should raise suspicion about an autoinflammatory disease:
Clinical Presentation
Autoinflammatory diseases commonly include symptoms such as fever, rash, joint pain, abdominal pain, and organspecific manifestations. The pattern and duration of these episodes are essential for diagnosis.
Family History
A family history of autoinflammatory disease is often present in affected individuals. Many autoinflammatory disorders have a genetic basis and follow an autosomal dominant or recessive inheritance pattern. Inquir-ing about family history is crucial in suspecting an autoinflammatory disease.
Age of Onset
Autoinflammatory diseases often have an early age of onset, typically in childhood. However, some disorders may present in adulthood as well. The age of onset can vary depending on the specific disease.
Recurrent Episodes
Autoinflammatory diseases are characterized by recurrent episodes of inflammation separated by symptomfree intervals. These episodes’ duration, frequency, and severity can vary between different conditions.
Exclusion of Other Conditions
In diagnosing an autoinflammatory disease, excluding infectious causes of recurrent inflammation is essential. A thorough evaluation should be conducted to rule out infectious etiologies, malignancy, and autoimmune diseases.
Laboratory Findings
During an episode of inflammation, laboratory investigations may reveal elevated acute-phase reactants such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). However, it’s important to note that these markers may be normal between episodes. Genetic testing can also play a significant role in confirming the diagnosis of specific monogenic autoinflammatory diseases.
Response to Treatment
During an episode of inflammation, laboratory investigations may reveal elevated acute-phase reactants such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). However, it’s important to note that these markers may be normal between episodes. Genetic testing can also play a significant role in confirming the diagnosis of specific monogenic autoinflammatory diseases.
Triggers
Summary
Autoinflammatory diseases often present with recurrent episodes of inflammation, often with a significant periodicity. Symptoms include fever, rash, joint pain, abdominal pain, and organ-specific manifestations. A family history of autoinflammatory disease, early onset, and recurrent episodes of inflammation are key indicators.
If you observe these signs in a patient, it’s crucial to consider autoinflammatory diseases in your differential diagnosis.
What to Do If You Suspect an Autoinflammatory Disease
If you suspect an autoinflammatory disease in a patient, here are some steps to take:
Document Symptoms
Keep a detailed record of the patient’s symptoms, including their frequency, duration, and severity.
Order Tests
Basic laboratory investigations can provide supportive evidence for autoinflammatory disease. During an inflammatory episode, patients may have elevated inflammatory markers.
Refer to a Specialist
If an autoinflammatory disease is suspected, refer the patient to a specialist for further evaluation. They can conduct more specialized investigations, confirm the diagnosis, and initiate appropriate treatment.
Follow-Up
Continue to monitor the patient’s symptoms and response to treatment and maintain open communication with the specialist.
For more detailed information on identifying, referring, and managing patients with suspected autoinflammatory diseases, please visit our Genetic Project page.
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: