Familial Mediterranean Fever: Rare Genetic Disease Is Often Misdiagnosed

One look at Ani’s swollen ankles and we knew she was in trouble.

For several years, the petite young mother had been coming to UCLA’s FMF Clinic with periodic fevers along with excruciating pain in her chest and abdomen. Now — as a urine dipstick test confirmed — her disease was also attacking her kidneys. The 4+ reading for urine protein indicated the organs were beginning to malfunction and leak serum proteins. The loss of circulating protein, in turn, explained the buildup of fluid in her extremities. If the situation wasn’t righted, fluid would eventually bloat all of her tissues.

If Ani (not her real name) had not moved from her native Armenia a decade earlier, she might never have been diagnosed with her rare, genetic disease in the first place, much less given the one drug that is guaranteed to stave off painful attacks and protect the kidneys from permanent damage.

But now she was living in Los Angeles, a city with fellow patients, savvy specialists and a large university clinic. Medically speaking, the next decision was easy. With the stroke of a pen, Ani’s daily dose of an old-fashioned anti-inflammatory drug, colchicine, was doubled.