Understanding Familial Mediterranean Fever

Familial Mediterranean fever (FMF) is a rare condition characterized by recurrent fevers and inflammation. Also called Undulant or Malta Fever, this disorder is concentrated in certain ethnic groups. If you belong to one of these groups, it's important to be aware of the for the sake of your family. Outside the Mediterranean area, Familial Mediterranean fever is often misdiagnosed, so if someone in your family shows signs of the condition, it may be up to you to alert the doctor to the possible cause.

Who Can Develop Familial Mediterranean Fever?

While the exact cause of familial Mediterranean fever is unknown, it's clear that it's a genetic disorder. As its name implies, it most commonly affects people of southern Mediterranean ancestry. It's most often found in Armenians, Sephardi Jews (and, more rarely, Ashkenazi Jews), Turks, Arabs, and the Lebanese. People from elsewhere in the Mediterranean, such as Italians and Greeks, may also develop FMF, but it's less common in these groups. The condition is found more often in men than in women, with a male-to-female ratio of around 1.5 or 2 to 1.

Due to the way the gene is passed on, two parents who carry the gene but have no symptoms of FMF still have a 25% percent chance of having a child who develops FMF symptoms. If someone with symptoms of FMF has a child with someone who carries the gene, but has no symptoms, the chances of passing on the condition are 50%. If two FMF patients have a child, however, the chance goes up to 100%.

Symptoms of Familial Mediterranean Fever

Symptoms usually appear between ages 5 and 15, with 90% of all patients showing their first symptoms before the age of 20. As its name implies, Mediterranean Fever is characterized by attacks of suddenly occurring fever (or alternating chills and fever) from about 100 to 104 F, which usually peak in 12 to 24 hours. The attacks take only a few hours to develop, but they can last anywhere from 6 hours to 4 days. Along with the fevers, patients also suffer from inflammation of the abdominal and chest lining, skin, and joints which results in severe pain in these areas. Almost any joint or group of joints can be affected and about a third of the patients develop rashes over the inflamed joints.

Attacks usually occur sporadically with no obvious trigger, but people are usually symptom free between attacks. Some people, however, find that physical or psychological stress can bring on an attack.

Because this disorder is rare outside the Mediterranean, doctors in other parts of the world often misdiagnose it. Inflammation of the lining of the abdominal cavity (a condition known as peritonitis), resembles a surgical abdomen. The symptoms of Familial Mediterranean Fever mimic appendicitis or an inflamed gall bladder (cholecystitis), so it's not uncommon for those suffering from FMF to be given unnecessary appendectomies and cholecystectomies.

What to Do If You Suspect It

Familial Mediterranean Fever can be fatal if left untreated, so if you suspect you or someone you know has this condition, consult a doctor as soon as possible. The diagnosis is based on the history of typical attacks, especially in patients from the ethnic groups where FMF is common. During an attack, blood tests can determine whether the person is producing high C-reactive protein levels, an elevated white blood cell count and other signs of inflammation. Since the gene that causes this condition has been identified, there's now a genetic test available.

Treatment of Familial Mediterranean Fever

There's no cure for FMF yet, but the symptoms can be controlled effectively. If the condition is treated, a person can live a full life with normal life expectancy. Unfortunately, most people continue to have attacks, but medication can reduce the number and severity of the attacks.

Colchicine, a medication that reduces inflammation, can prevent attacks of fever and inflammation. It may also help during reduce symptoms somewhat during an attack, but it can't altogether stop an attack that's already started.

One problem with Colchicine is that it inhibits cell division, so it's not generally given to growing children. For the same reason, Colchicine should be avoided during pregnancy because it may stop the fetus from growing properly. Colchicine can cause or worsen lactose intolerance, so some patients using this medication follow avoid foods with lactose.

Colchicine, can't help every FMF patient, though. For these people, treatment with interferon alfa (IFN) may help. This isn't certain, though, because studies from Turkey have reached opposite conclusions about how effective this treatment is. The drug etanercept, a tumor necrosis factor-blocking drug, is another treatment that's being explored. Some people with FMF find that simply following a low-fat diet lessens their attacks, too.

In people who've been having attacks over a decade or more, kidney function should be monitored because FMF can lead to kidney failure.

If you or someone you love shows symptoms of FMF, it's vital to talk with a doctor about it as soon as possible. If you happen to be a member of an ethnic group where FMF is common, making yourself familiar with the condition's symptoms could save a family member from needless suffering caused by misdiagnosis.