Category Archives: Autoinflammatory

Predicting Colchicine Response in Patients with Undefined Autoinflammatory Diseases

 

Background/Purpose:

Autoinflammatory diseases (AIDs) are a rare group of illnesses characterized by unprovoked episodes of fever and systemic inflammation.  An understanding of their pathophysiology has led to the development of effective treatment guidelines. Unfortunately, many patients with recurrent fevers have symptoms that do not match any of the known AIDs. There is an unmet need to provide effective treatment to these patients with undefined AIDs (uAIDs). Colchicine, a treatment for patients with familial Mediterranean fever, is sometimes used to treat patients with uAIDs. We examined the efficacy of colchicine in patients with uAIDs and identified clinical factors that predicted a good colchicine response.

Continue reading Predicting Colchicine Response in Patients with Undefined Autoinflammatory Diseases

Colchicine efficacy for undefined autoinflammatory diseases

Purpose

Autoinflammatory diseases (AIDs) are a rare group of illnesses characterized by unprovoked episodes of fever and systemic inflammation.  Patients with defined AIDs benefit from evidence-based treatment guidelines1. Unfortunately, many patients with AIDs do not have a genetic diagnosis and their symptoms do not match any of the known AIDs. There is an unmet need to provide effective treatment to these patients with undefined AIDs (uAIDs). We examined the efficacy of colchicine in patients with uAIDs and identified patient characteristics and clinical factors that predicted a good colchicine response.

Continue reading Colchicine efficacy for undefined autoinflammatory diseases

Your headaches…are they autoinflammatory?

She had headaches for many years.  She visited multiple doctors, including her primary care physician, a neurologist, a pain clinic, and even a headache specialist, but she was unable to find an effective treatment.   Over time she developed additional symptoms, including unexplained rashes and abdominal pain. When a close family member was diagnosed with an autoinflammatory disease, she was referred to my clinic to see if she, too, had one of these rare illnesses. Continue reading Your headaches…are they 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