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Familial Mediterranean Fever: Rare genetic disease is often misdiagnosed

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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.

For her part, Ani finally understood she would need colchicine for the rest of her life. This time, she promised to take her pills faithfully.

Familial Mediterranean fever is a genetic disease that primarily affects certain people -- Greeks, Armenians, Turks and Sephardic Jews in particular -- whose ancestors once lived in lands bordering that great sea. But despite its ancient roots, FMF remained a medical mystery until the mid-20th century.

For one thing, the mutation that produces the disorder (now traced to a gene on human chromosome 16) is often silent for generations, appearing only after two carriers meet and have children. As a result, many sufferers -- and their families and doctors -- end up attributing FMF's 24- to 48-hour attacks of fever and pain to everything but a rare inherited blight.

Even today, many patients bear the scars of needless appendectomies. Others are mistakenly diagnosed with such ailments as diverticulitis, pancreatitis, pleurisy and lupus -- even psychiatric disorders -- until a light goes on and patients are finally placed on colchicine.

Dr. Sherman M. Mellinkoff, former dean of the UCLA School of Medicine and a founding father of UCLA's FMF Clinic, still remembers the first case of FMF he saw, in the mid-1950s.

He had been called to UCLA's fledgling emergency room to settle a bet between a medical intern and a surgical resident: Did their 36-year-old patient have peritonitis, or was he faking his illness?

When Mellinkoff met the neatly dressed rug salesman -- who, since childhood, had endured thousands of attacks of fever and pain -- the words of a former professor, relaying a similar patient story, echoed in his brain: "Nobody knows what this disease is, but in Lebanon it is described as the Armenian disease."

In the end, both trainees lost their bet. And the man in the ER became a lifelong patient and friend of Mellinkoff's as well as a staunch FMF advocate who ultimately drew dozens more sufferers to UCLA.

One FMF patient who has been attending UCLA's clinic for close to 20 years is Sonia Batalian Chookoorian, a graphic designer from Massachusetts now married to a local musician. While she was growing up, some of her family members questioned her symptoms; others simply drew a blank. Finally, an aunt encouraged the young woman to see a specialist in Boston. That doctor believed Chookoorian had FMF but was maddeningly vague about treatment.

Chookoorian will never forget her first visit with Mellinkoff and Dr. Arthur Schwabe, another beloved UCLA FMF expert, now deceased. They set her, at last, on the right course of treatment -- at the age of 28.

"I felt as if a weight was being lifted," she says now. "Taking colchicine every day was a small price to pay in return for finally knowing my diagnosis and avoiding its pain."

Chookoorian wanted to be named in this article for a reason. She worries that many FMF sufferers are still in the shadows, either unaware, needlessly stoic or -- fearing social backlash that might even affect their marriageability -- overly secretive about it.

Soon after meeting her own husband-to-be, Chookoorian revealed her condition, and her future spouse took it in stride. But in private she still struggled with the thought that FMF might someday prevent her from becoming pregnant or bearing healthy children. Schwabe reassured her.

"He could tell how concerned I was about whether or not I would have children. He told me I shouldn't worry. And here I am, with twins!"

So far, neither of Chookoorian's boys, age 7, have shown evidence of FMF. Nor, considering their low odds of marrying another carrier, is it likely their descendants will either.

For now, Chookoorian is most concerned about other FMF sufferers. "It just doesn't make sense," she says, "that some people are still in denial. Of all the genetic diseases that are out there, this one is so easy. With a few simple pills, you can lead a perfectly normal life."

As a physician of Armenian ancestry, I'm heartened by Chookoorian's desire to help patients such as Ani as well as others of different ethnic backgrounds who share the same inherited fate. Chookoorian's zeal also brings to mind one of the few Armenian phrases I know: "There is no evil without good."

Thankfully, Ani turned the corner. On her next visit, her kidney function was better, her ankle swelling was down and all of us -- seasoned docs and trainees alike -- let out a collective sigh of relief. As long as she stayed on an adequate dose of colchicine, she would be fine.

Dunavan is professor of medicine and infectious diseases at the David Geffen School of Medicine at UCLA.

Copyright © 2014, The Baltimore Sun
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