Investigations for autoinflammatory periodic fever syndromes

Most autoinflammatory periodic fever syndromes do not have readily available biomarkers and diagnosis is generally made clinically with genetic confirmation where available.

Basic investigations for these conditions include full blood count, serum C-reactive protein (CRP) concentration and erythrocyte sedimentation rate (ESR) to demonstrate a pattern of rise and fall in acute phase reactants that is typical of autoinflammatory periodic fever syndromes. A normal serum CRP concentration during an episode effectively excludes an autoinflammatory cause of fever.

There is a risk of developing long-term amyloidosis associated with several autoinflammatory periodic fever syndromes, particularly familial Mediterranean fever. Serum amyloid-A concentration is a very sensitive acute phase reactant that can be used to monitor disease control and the risk of developing long-term amyloidosis associated with autoinflammatory periodic fever syndromes. It is not helpful for the diagnosis of autoinflammatory periodic fever syndromes.

Targeted investigations to exclude mimics of these conditions (eg infection, malignancy, immunodeficiency, autoimmune conditions) may be required in some instances.