This is video from a small-group teaching session that I led based on the case of a child with recurrent fevers. This case was done as part of my Rabkin Fellowship in Medical Education. I would appreciate your feedback on this teaching session!
We are not alone. Right now, there are over 500 species of bacteria living in your mouth. Each part of your gut (stomach, small intestine, large intestine) provides a home to 1000 unique bacterial species. There are many more bacteria living on your skin and in every orifice in your body. Microbes make up (at least half of) who we are. We are a walking ecosystem with an incredible diversity of organisms unique to us, and in more ways than one, they make up who we are and what we do. Continue reading The microbiome in autoinflammatory diseases: a missing link?
Autoinflammatory diseases are diverse: they are caused by different genes, present at various stages in life, and cause a variety of symptoms. Even in patients with the same disease, such as familial Mediterranean fever (FMF), attacks may differ widely; some can have severe abdominal pain while others develop headaches. As a result, measuring disease activity–how active the disease is and how severely the patient is affected–has been quite difficult.
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?
Doctors are discovering new autoinflammatory diseases almost every month. The latest autoinflammatory disease is called STING-associated vasculopathy with onset in infancy, or SAVI. As the name implies, the disease becomes noticeable shortly after birth: infants develop a rash, nodules, fever, lung abnormalities, and ulcers or gangrene in their fingertips. Blood testing shows elevation in markers of inflammation, as are normally seen in autoinflammatory diseases. Continue reading SAVI, the new autoinflammatory kid on the block