Tag Archives: autoinflammatory

Discovering colchicine for familial Mediterranean fever

Dining with colleagues in the cafeteria of the Massachusetts General Hospital, Dr. Stephen Goldfinger expressed his frustration about the strange illness of a patient he had recently seen. She had attacks of fever and abdominal pain that seemed to come out of nowhere.  Her attacks were brief, lasting 1-3 days, but were so severe that she became bed-ridden during these episodes.  Although the woman was otherwise healthy, a severe depression ensued from the unpredictable, debilitating illness that plagued her life every few weeks.

Continue reading Discovering colchicine for familial Mediterranean fever

Teaching about recurrent fevers in a small-group setting

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!

The microbiome in autoinflammatory diseases: a missing link?

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?

Measuring disease activity

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.

Continue reading Measuring disease activity

SAVI, the new autoinflammatory kid on the block

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