Dr Beverley Almeida and Dr Liza McCann discuss the challenges associated with diagnosing rare autoinflammatory conditions, highlighting some of the ‘red flags’ that should raise suspicion and prompt referral.
There is a myriad of rare autoinflammatory diseases (also known as periodic fever syndromes) which present with a range of symptoms, some of which are common to other less serious conditions. As such, these diseases can be initially misdiagnosed as skin complaints, infections or allergic reactions, and this can lead to referrals to a number of specialists before a successful diagnosis is made. Autoinflammatory diseases are genetic, and symptoms first manifest in patients during their first years of life; this complicates diagnosis, as patients may not be able to articulate all of the symptoms they are experiencing.
This article will focus on the diagnosis of these autoinflammatory conditions, and will provide an outline of the symptoms that should raise suspicion, and act as a red flag to clinicians in secondary care to refer patients to a specialist paediatric rheumatologist. Alternatively, a specialist paediatric infectious disease (ID) consultant or paediatric immunologist may make the diagnosis. The cryopyrin-associated periodic fever syndromes (CAPS) will be used to illustrate the presentation, diagnosis and treatment of autoinflammatory disease.
Autoinflammatory disease: aetiology and characteristics
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