Trying to differentiate between the many (and ever-growing in number) autoinflammatory diseases is difficult. They share many clinical features such as fever, abdominal pain, and elevation in inflammatory markers. These diseases are so rare that most physicians, even some rheumatologists, may never see them. Genetic studies are only helpful to diagnose a fraction of these patients–we only know a handful of mutations that cause these syndromes.
This is why it was refreshing to read a new study that appeared in this month’s Annals of Rheumatic Diseases: The phenotype of TRAPS at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. It provides us with clinical clues to help identify patients with TRAPS (tumor necrosis factor-receptor-associated autoinflammatory syndrome). Continue reading What do patients with TRAPS look like?