Familial Mediterranean Fever

Familial Mediterranean fever (FMF) is a genetic condition that makes your body's immune system act up. This causes recurring fevers and painful swelling and tenderness in parts of your body, such as your stomach, chest, and joints. It's like your body is attacking itself.

FMF is often passed down through families, and it's more common in people of Mediterranean heritage, including those of Jewish, Arab, Armenian, Turkish, North African, Greek, or Italian descent. However, anyone can get FMF, regardless of their ethnicity.

People usually get diagnosed with FMF during childhood. While there's no way to get rid of FMF completely, you can manage the symptoms and possibly prevent them from happening by following a treatment plan created by your doctor. This plan might include medications to control inflammation and reduce the frequency of attacks.

Familial Mediterranean fever (FMF) typically starts in childhood. It comes in episodes, or attacks, that usually last for one to three days. However, joint pain attacks can sometimes last for weeks or months.

The symptoms of an FMF attack can be different for everyone, but common signs include:

• High fever: A significant rise in body temperature.
• Stomach pain: Discomfort in the abdomen.
• Chest pain: Pain that can make it difficult to breathe deeply.
• Sore, swollen joints: This often affects the knees, ankles, and hips.
• Skin rash: A red rash, often appearing below the knees on the legs.
• Muscle aches: Pain and stiffness in the muscles.
• Swollen scrotum: Inflammation and tenderness in the scrotum (the pouch containing the testicles).

These attacks usually go away on their own after a few days. When the attack is over, you should feel much better, as if nothing had happened. The periods between attacks can be very short, just a few days, or quite long, even several years.

In some people, the first sign of FMF is a condition called amyloidosis. Amyloidosis happens when a protein called amyloid A builds up in different parts of the body, mostly the kidneys. This extra protein causes inflammation and makes it hard for these organs to work properly.

If you or your child develop a sudden fever along with pain in the stomach, chest, or joints, see a doctor right away. This combination of symptoms could signal a serious health issue that needs prompt medical attention. Don't delay in seeking professional help.

Familial Mediterranean fever (FMF) is a genetic condition. This means it's passed down from parents to their children through a change, or mutation, in a specific gene. This gene change affects a protein in the body's immune system called pyrin. Pyrin helps control inflammation, and when it's not working correctly, inflammation can become uncontrolled, leading to episodes of pain and other symptoms.

The gene directly involved is called MEFV. Different changes (mutations) within this gene can cause FMF. Some mutations lead to more severe symptoms than others. The severity of the condition can vary significantly from person to person.

Scientists don't fully understand what starts an FMF attack, but certain things seem to trigger them more often. These triggers can include emotional stress, a woman's menstrual period, exposure to cold temperatures, and physical stress, such as getting sick or injured.

Familial Mediterranean fever (FMF) is a condition that can run in families. Several factors might make someone more likely to develop FMF.

One key factor is a family history of FMF. If one or more close relatives have had FMF, you have a higher chance of getting it too. This is because the condition is often passed down genetically.

Another factor is Mediterranean ancestry. People whose families have roots in the Mediterranean region might have a slightly increased risk of FMF. While anyone can get FMF, it's more common among people of Jewish, Arab, Armenian, Turkish, North African, Greek, or Italian descent. This doesn't mean someone with this background will get FMF, just that their risk is a little higher. It's important to remember that FMF can affect people of all backgrounds.

Familial Mediterranean Fever (FMF) can cause problems if it's not managed. Untreated inflammation from FMF can lead to serious complications:

• Amyloidosis: During FMF attacks, your body sometimes makes a protein called amyloid A. This isn't usually present in your body. A buildup of this protein causes inflammation, which can damage organs.

• Kidney problems: Amyloidosis can hurt your kidneys, potentially leading to a condition called nephrotic syndrome. This happens when the filtering parts of your kidneys (called glomeruli) are damaged. People with nephrotic syndrome often have a lot of protein in their urine. This can increase the risk of blood clots in the kidneys (renal vein thrombosis) or eventually, kidney failure.

• Joint pain: People with FMF often experience arthritis, which means painful inflammation in their joints. The knees, ankles, and hips are commonly affected.

• Trouble getting pregnant or fathering a child (infertility): The ongoing inflammation from untreated FMF can affect the reproductive organs, making it harder for people to have children.

• Other potential problems: FMF inflammation can also affect other parts of the body, including the heart, lungs, spleen, brain, and the veins close to the skin's surface.

In short, if FMF isn't treated properly, it can lead to significant health issues beyond just pain and discomfort. It's important to talk to a doctor about your symptoms and get appropriate medical care.

Diagnosing Familial Mediterranean Fever (FMF) involves several steps:

Genetic Testing for Family Members: If you have FMF, your doctor might suggest genetic testing for your close relatives (parents, siblings, children) or others who might be at risk. This helps understand how gene changes related to FMF are passed down. A genetic counselor can explain these changes and their potential impact.

Gathering Information: Your doctor will:

• Ask about your symptoms: They'll want to know what you're experiencing.
• Perform a physical exam: This helps them assess your overall health.

Reviewing Family Medical History: Knowing if other family members have had FMF is important. A family history of FMF significantly increases the chance you might also develop the condition, because the genetic change causing FMF is inherited.

Lab Tests during an Attack: If you're having an FMF attack, your doctor may order blood and urine tests. These tests can look for signs of inflammation in your body. Some possible indicators include:

• Elevated white blood cell count: White blood cells fight infection, and a higher-than-normal count suggests inflammation.
• Protein in the urine: This could be a sign of a related condition called amyloidosis.

Genetic Testing: A genetic test can check for changes in your MEFV gene, which are linked to FMF. It's important to understand that not all gene changes associated with FMF can be detected by current genetic tests. This means there's a possibility of a false negative result. Because of this, doctors usually don't rely solely on genetic testing to diagnose FMF. They use a combination of factors to make an accurate diagnosis.