Familial Mediterranean Fever

What is familial Mediterranean fever?

Familial Mediterranean fever (FMF) is a condition that is characterized by paroxysmal (sudden, intense) episodes of high fever (38-40°C or 100.4-104°F) and pain in the abdomen and other body parts (such as joints), typically lasting 48 96 hours. An attack of FMF can resemble acute appendicitis, cholecystitis (inflammation of the gallbladder), or kidney stones, fairly common conditions that also feature fever and pain in various parts of the abdomen. FMF episodes also can produce arthritis and gastrointestinal symptoms, and a problem called amyloidosis that causes disease in organs, such as the kidneys, and is related to the presence of a substance called amyloid-A in the blood. Episodes of FMF result from an autoimmune process (inappropriate action of the bodys own immune system) that attacks the outer layers of various organs. This is an inherited condition. FMF is seen in particular ethnic groups and is based on the presence of certain genetic sequences, notably mutations within a gene called MEFV. Since FMF symptoms almost always begin prior to age 40 (and often by the teenage years), the condition can easily coincide with pregnancy.

How common is FMF during pregnancy?

Although FMF is rare in the populations of western countries, it is common among particular ethnic groups. In certain populations of Armenians, for instance including Armenians of southern California (as well as Armenians in Lebanon), FMF occurs in 1 out of every 500 people; this is related to the presence of a mutation of the MEFV gene in 1 out of 7 people. In Turkish people, the FMF rate is somewhere between 1 per 150 to 1 per 10,000 people. Sephardic Jews have a rate between 1 per 250 and 1 per 1,000 people. Arabs, Greeks, and Italians also are known to have high rates of the disease, but the precise numbers are controversial. FMF also occurs in Ashkenazi Jews, but only at a rate of 1 per 73,000, so it is much rarer than in Sephardic Jews, although reports also suggest fairly high rates of FMF in Jews hailing from Arab countries. The take-home message of all of this is that if you are Armenian, Jewish, or have roots in a Middle Eastern or Mediterranean country its realistic that you could have FMF, and if you do have FMF it is likely that it will have struck by the time that you are in your reproductive years.

How is FMF diagnosed?

If you have a history of attacks of fever and pain in the abdomen and/or other locations in the body that have not led to the diagnosis of another condition, despite doctors working you up for other conditions with numerous tests, or if you have had a healthy appendix or healthy gallbladder removed, and if you are part of an ethnic group that is known to have a high rate of FMF, doctors will suspect that you have FMF. In such cases, you will be offered genetic testing to look at the MEFV gene. There are many known mutations of this gene, and the finding of any of them will support a diagnosis of FMF.

Does FMF cause problems during pregnancy?

In some women with FMF, the condition improves during pregnancy, but in other women, FMF can get worse in terms of the intensity of the attacks of pain and fever. The pain attacks in the abdomen can be the result of peritonitis, which also can trigger very early contractions of the uterus, leading to a spontaneous abortion (miscarriage). In addition to the fact that high fever can cause dehydration, the amyloid A that circulates in the blood in connection with FMF can lead to damage and ultimately failure of internal organs, such as (but not limited to) the kidneys.

FMF is notorious for causing unnecessary surgical procedures, such as an appendectomy on a healthy appendix, or a cholecystectomy of a healthy gallbladder.

Does FMF during pregnancy cause problems for the baby?

An FMF attack that includes peritonitis can trigger a spontaneous abortion (miscarriage), resulting in the loss of the baby. Additionally, fever itself can be harmful to the developing baby. Some studies have suggested that fever during pregnancy can increase a babys risk of having congenital defects involving the heart and other organs. Also, a recent study identified maternal fever as a possible risk for the baby developing autism spectrum disorder.

What to consider about taking medications when you are pregnant:

• The risks to yourself and your baby if you do not treat the FMF
• The risks and benefits of each medication you use when you are pregnant
• The risks and benefits of each medication you use when you are breastfeeding

What should I know about using medication to treat my FMF during pregnancy?

Treatment for FMF consists of an anti-inflammatory drug called colchicine, which is thought to be safe for the developing baby.

Who should NOT stop taking medication for FMF during pregnancy?

Any woman whose FMF is under control from colchicine should continue taking the medication as normal throughout pregnancy.

What should I know about choosing a medication for my FMF during pregnancy?

You may find Pregistrys expert reports about the individual medications to treat FMF here. Additional information can also be found in the sources listed at the end of this report.

What should I know about taking a medication for my FMF when I am breastfeeding?

Colchicine has been found to be safe during breastfeeding.

What alternative therapies besides medications can I use to treat my FMF during pregnancy?

There are no alternatives to anti-inflammatory medication.

What can I do for myself and my baby when I have FMF during pregnancy?

Be very aware that you have a condition that easily is confused with abdominal conditions that are considered emergencies and are treated with surgery. Doctors may lead you to discuss your history or family history, or the fact that you have, or may have, FMF, but this often depends on the location of the emergency room or delivery room that you are visiting. If you are in a geographic location with few people from Mediterranean, or Middle Eastern lands, its quite realistic that FMF might not be considered in a pregnant woman with fever and abdominal pain, so you should be proactive in being part of the conversation.

Resources for FMF in pregnancy:

For more information about FMF during and after pregnancy, contact http://www.womenshealth.gov/ (800-994-9662 [TDD: 888-220-5446]) or read the following articles:

• Amyloidosis Patient Information Site: Colchicine in pregnancy
• National Institutes of Health: Learning About Familial Mediterranean Fever