Danger level: Medium

What is it?

Familial Mediterranean Fever (FMF) is a rare inflammatory disease, characterized by recurrent attacks of fever and inflammation.

Who gets it?

FMF mostly affects people of Mediterranean origin, such as Sephardic Jews (and some Ashkenazi Jews), Arabs, Armenians, Italians and Turks.

The disease is genetic, and so it tends to run in families. (It is transferred in a recessive fashion – for an explanation about that see Tay-Sachs disease).

FMF is about twice as common in men than women. It most commonly starts before age 20.

What causes it?

In FMF, there’s a mutation in one of our genes. That gene is called MEFV (short for MEditerranean FeVer). This gene holds the code for a protein in our body called pyrin, which is responsible for bringing down inflammation in the body. Since this protein is defective in the disease, inflammation occurs in various organs in the body.

As a result of the inflammation, the symptoms of the disease and the fever occur.

The MEFV gene leads to pyrin, which takes down inflammation. In FMF, pyrin is defective, so inflammation goes up.

Something else that happens as a result of the inflammation is excess production of a material called amyloid, which then accumulates inside the body.

How does it feel?

Usually the disease begins between age 5-15. When it starts, people start having attacks, which usually last 1-3 days (but can last longer). People with FMF have several attacks (from 2 a week to 1 a year in people who are more lucky).

What happens in these attacks?

1. Fever
2. Abdominal Pain – This pain tends to resemble diseases that need urgent surgery (such as perforation of the intestines). This is why many people with FMF  have underwent unnecessary surgeries just to discover they didn’t have those diseases.
3. Joint pain
4. Chest attacks – They are caused by inflammation of the coverings of the lungs or heart.
5. Testicle attacks – Because of inflammation of the coverings of the testicles.
6. Rash in the lower legs

Above we talked about accumulation of a material called amyloid in the body. This is a complication of FMF. Amyloid is produced during attacks and accumulates mainly in the kidneys (leading to failure of the kidneys), but also in the heart, spleen, intestines and thyroid gland.

FMF can also cause infertility in women, because the inflammation leads to adhesions inside the pelvis, which interfere with pregnancy.

One of the main things in FMF is stomach pain. Photo by quinn.anya.

How is it discovered?

The disease can be discovered in two ways:

1. If the attacks happen as mentioned above it serves as a clue.
2. A genetic test can be performed to see the defective MEFV gene.

Also blood tests can show that there’s inflammation going on in the body.

How is it treated?

During the attacks, people are given pain killers and anti-inflammatory drugs.

To prevent attacks from occurring, people are treated with a drug called colchicine.

What happens after treatment?

People who take colchicine can probably expect to have a normal lifespan if it’s started early in the disease. If kidney failure occurs, people may need dialysis or kidney transplantation.

Unfortunately, there is no known way to prevent FMF.

You can read more about FMF at the FMF Blog . It was created by Nancy Sparks Morrison. Nancy also runs a support group for FMF patients.

What next?

Get free site updates by RSS or by Email, or follow us on Twitter, Facebook or Google Buzz.

Related posts:

1. Superior Canal Dehiscence Syndrome – Hearing Sounds Inside Your Own Body (As Seen on Grey’s Anatomy)
2. Systemic Lupus Erythematosus – The Body Attacking Itself
3. Crohn’s Disease – Inflammation in The Intestines Which Can Influence Your Whole Life
4. Myasthenia Gravis – The Body Attacking Its Own Muscles
5. Temporal Arteritis (Giant Cell Arteritis) – An inflammation In Your Arteries Which Can Drive You Blind