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 bedridden during these attacks. Although the woman was otherwise healthy between attacks, severe depression ensued from the unpredictable, debilitating episodes that plagued her life every few weeks.
He knew her disease was called familial Mediterranean fever; it had been first described in a medical journal in 1908, but its cause was yet to be found, and there were no effective treatments. Patients died from kidney failure after years of suffering through these attacks.
He desperately wanted to find better treatments for his patient and was brainstorming with colleagues about potential options. One of his colleagues mentioned that a patient with FMF and gout was treated with a medicine called colchicine, the standard treatment for gout. Both gout and FMF seemed to improve.
Dr. Goldfinger knew that colchicine interfered with a white blood cell’s ability to become activated and cause inflammation, a response to uric acid crystals in gout. He wondered whether colchicine may also help patients with FMF, in whom activated white blood cells were thought to create inflammation and disease.
“Depression and work-absenteeism characterized their lives,” he wrote. Dr. Goldfinger started his patient with depression a colchicine pill to take every day. As if by magic, her episodes resolved. He tried the therapy on four other patients, and the FMF attacks in all of them improved. They were on treatment for a total of 127 patient months, and in that time, had only had four attacks of FMF, instead of the 150 episodes he expected had they not been treated. He reduced the frequency of episodes by 96%!
He published his findings in a modest Letter to the Editor in the New England Journal of Medicine, who printed the letter with skepticism. “A noteworthy improvement in life style was reported by each patient in euphoric terms. No adverse effects were encountered.”
Doctors who treated patients with FMF doubted his findings…they were too good to be true!
Years later, researchers confirmed that colchicine prevented acute attacks and kidney failure, the most severe complication. His discovery improved the lives of thousands of patients and prevented severe morbidity and mortality.
