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.

He knew her disease was called familial Mediterranean fever (FMF), first described in 1908. Its cause was mysterious, and no effective treatments were available. Many patients died from kidney failure after years of suffering with these attacks.

Hoping to rid herself of FMF attacks forever, the woman tried (unsuccessfully) to take her life.  Dr. Goldfinger desperately wanted to find anything to treat her disease. His colleague,  Dr. Guillermo Sanchez, recalled a patient with FMF and gout that he had treated. The patient received a gout medication called colchicine, and his gout and FMF seemed to improve.

At the time, Dr. Goldfinger knew that colchicine interfered with a white blood cell’s ability to cause inflammation.  He wondered whether colchicine may also help patients with FMF,  in whom activated white blood cells were thought to contribute to the disease.

He started his patient on daily colchicine.  As if by magic, her episodes of fever and abdominal pain ceased!  Encouraged by colchicine’s success in this one patient, he tried colchicine in four other patients with FMF, and in all of them, episodes almost completely resolved.

Clinical response to colchicine

He published his findings in a modest Letter to the Editor to the New England Journal of Medicine, which printed the letter with skepticism.

Letter to the editor NEJM

“Depression and work-absenteeism characterized their lives,” he wrote.  After initiating therapy, “a noteworthy improvement in life style was reported by each patient in euphoric terms.  No adverse effects were encountered.”

His results were so dramatic that many of the world’s FMF experts doubted his findings…they seemed too good to be true!

Years later, researchers confirmed that colchicine was effective in preventing attacks of FMF and the development of kidney disease.

In a crowded hospital cafeteria, a young doctor considered an unconventional approach for treating an unpredictable, unrelenting disease.  His courage changed the lives of patients with FMF throughout the world.

Dr. Hausmann (left) and Dr. Goldfinger after his presentation at Boston Children’s Hospital.

This article was written based on Dr. Goldfinger’s presentation at Rheumatology Grand Rounds, Boston Children’s Hospital on March 27, 2015.

One thought on “Discovering colchicine for familial Mediterranean fever”

  1. It’s quite amazing to learn that Dr. Goldfinger got his “inspiration” from gout treatment. And I think the interesting thing is that people found out that gout itself is an autoinflammatory process.

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