Familial Mediterranean Fever (FMF)

2005-12-24T00:59:00.002-05:00

Greetings netizens, I want to take a minute to talk about Familial Mediterranean Fever (FMF), an autosomal recessive genetic disease characterized by brief recurrent episodes of peritonitis, pleuritis, and arthritis, and usually associated with fever.

It afflicts tens, if not hundreds, of thousands of people of Mediterranean descent, specifically:

Armenians, who have the highest incidence, *with an estimated prevalence of 1 case per 500 (and a recessive gene frequency of 1:7)
one per 250-1000 Sephardic Jews (with a gene frequency of 1:8-16 )
one case per 1000 among the population of Turkey
one case per 2600 among Arabic people (1:50 gene frequency)
one per 73,000 Ashkenazi Jews (1:135 gene frequency)

*^{All figures are approximations, based on various population studies. Actual incidence may vary.}

Unfortunately, my fiancée is one of these statistics, having inherited the recessive genes (though not necessarily the same gene, as there are numerous variants) from her parents. They, in turn, inherited it from one of their own parents, and so on and so on, back through the ages to one (theoretical) individual who first manifested the genetic mutation, and is essentially the ancestor of thousands of Armenians, Turks, Arabs and Jews (the irony, eh?)

Why the mutation developed, and why it was able to survive for what is probably several thousand years, is a mystery. Doctors believe carriers of the recessive gene (i.e., only inherited from one parent), produce a protein—marenostrin, Latin for "our sea" because of the Mediterranean connection—that may combat a certain type of inflamation or fever that affects people in that geographical area. This might have initially made it an "attractive" characteristic, since it would have helped people, and their offspring, survive.

Remember that minor illnesses we take for granted today used to kill most people before the advent of mass-produced pharmaceuticals—in the case of FMF, a drug called colchicine, which (in an amazing stroke of luck or Divine Providence) is synthesized from a flower that just so happens to be native to North Africa, where it had probably been put to good use as a herbal remedy by the local affected members of the population.

The tiny, unassuming yellow pills that my fiancée takes twice a day make all the difference in the world: taking them means she won't suffer kidney failure and the associated complications, since—if left unchecked—the excess proteins produced by disease eventually destroy the renal system, typically causing death by the age of 50.

Colchicine also helps reduce the severity and frequency of FMF attacks. When we first started dating, at age 19, when she was a smoker (a no-no for colchicine-takers), and juggling work, school and going out on weekends—like every other "normal" person else her age—my fiancée suffered three serious attacks.

In these instances, the pain from inflamation was so severe—she was completely incapacitated, throwing up bile and had a persistent fever—that she had to be hospitalized and administered a morphine drip. Since then, she has been taking life easier, doesn't smoke or drink, or stay out late, and usually takes her pills at least twice a day. She has recently been taking only one pill a day (as small as they are, the pills are hard on the digestive system), so perhaps that's why she had her latest bout of inflamation last weekend—peaking on the night of my sister's engagement party.

In a way, I'm glad that it happened now, because I was able to watch her mother take care of her in her moment of anguish, because it's a role that I'm going to have to assume once we're married. To be honest, I've never felt as useless as I did when watching the love of my life howl with pain, and not be able to do a damn thing about it. I'm talking about pain so bad, it caused her to throw up the contents of her barely touched dinner.

In the worst of it, she was even hallucinating and seemed to revert to a child-like state. I'm guessing that's a coping mechanism she's developped over the years, especially since she spent the better part of her childhood undiagnosed. Or rather, misdiagnosed: like so many FMF sufferers, she had her appendix taken out by mistake, since the symptoms are so similar to appendicitis.

We probably should have taken her to the hospital, where they could have given her some real pain-killers (to be able to make it through my sister's party, she popped more anti-inflamatory pills than I care to mention), but the prospect of possibly waiting several hours in the middle of the night before being seen put the kibosh on that idea.

I don't blame her for choosing to suffer at home, in her own bed—after enduring morphine and IVs, bad hospital food, and missing countless days of school as a child and teen (it still blows my mind that none of the teachers at her Armenian private school knew anything about her disease and many even thought she was faking... As if the stigma of being a "sick kid" wasn't bad enough!)

My brave little Rita lived through two hellish nights of FMF attacks that weekend. The following Monday, we were lucky enough to get an appointment with a specialist (a rheumatologist named Dr. Cohen, I forget his first name) who had seen her several years before, after he last rash of attacks.

He prescribed her a 12-day, post-FMF attack regiment of anti-inflamatory pills (Novoprednisone, or prednisone): four pills in the morning and four at night for the first three days, three in the morning and three at night for the next three days, etc., until the 12^th day.

By treating her inflamation—the cause of her extreme pain during attacks—the doctor allowed her to function well enough that she was able to study properly for her management law final exam. I highly recommend a similar regiment for any FMF sufferer.

However, in the event that neither colchicine, nor anti-inflamatories, nor pain-killers have any effect on her condition, he also prescribed an immune system booster (Roferon-A, or interferon alpha. It's some sort of anti-viral drug that needs to be stored in a refrigerator, and injected when needed (she bought a batch several years back, but it's since expired).

Obviously, all these medications sound scary (rightfully so, if you check out the possible side-effects of inteferon alpha, which include suicidal thoughts and psychosis), but a necessary evil for someone suffering from FMF, not to mention their loved ones.

I hope someone will find this information useful. I know I have.

FMF blog

Familial Mediterranean Fever (FMF)