What is Familial Mediterranean Fever?

Common symptoms of a rare disease from a patient’s point of view.

Fever, stomach ache, body pain. It feels like an intestinal flu, but keeps coming back.

Stress and anxiety make it worse. Worsening symptoms create more stress and anxiety.

Very few doctors in the United States have even heard of it.

What is it? Familial Mediterranean Fever (FMF).

Likely you’ve never heard of it either.

What Is Familial Mediterranean Fever?

The first question I get when I tell someone I have FMF is, “When were you in the Mediterranean?” So, let me start by saying this is not a contagious disease and can’t be picked up in the Mediterranean. While I would love to travel the area, I have never been there.

Familial Mediterranean Fever is most prevalent in the countries around the Mediterranean affecting about 1 in 200 in some places. Some doctors also call it, “Periodic Fever Syndrome.”

Familial Mediterranean Fever is a hereditary, auto-inflammatory disease characterized by acute inflammation and recurring fever. Inflammation may affect the lining of the abdomen, lungs, and joints. Occasionally, it may affect the membrane covering the brain and spinal cord or the lining around the heart.

Frequent symptoms include:

• Persistent and recurring fever.
• Unexplained pain in the abdomen.
• High inflammation markers in blood tests.
• Generalized body and joint pain.
• Skin rashes

My Symptoms

For me, the stomach pain was so severe it often kept me home. Wearing pants or anything that touched my abdomen was impossible.

Since guys in Tennessee don’t wear muumuus, and they frown against public nudity here, it made going out in public difficult. Even blankets were painful.

There were times I couldn’t even sit up. Sleep was non-existent, leaving me constantly exhausted and groggy.

I typically have a low-grade fever usually ranging from 99.0–100.5 F. During a severe attack, that number can go much higher. My normal temperature is 97.6 F, but I rarely see it, even now that I’m on daily medication.

Before I received a diagnosis, the fever was non-stop. I have months chronicled. The fever brings additional pain with it and makes me feel cold.

No matter what time of the year it is, you will see me in a hoodie or sweater. That’s even on those hot Tennessee summer days.

Episodes of the disease, called attacks, can last from 2 to 7 days. For most patients, the typical length is 2 to 3 days. I rejoice when it’s only 2–3 days.

It’s common to have attacks back-to-back if you’re not receiving treatment. Once or twice a year, I still struggle with symptoms of an attack that last 21 days or more. Whether it’s one attack, or one right after the other, I can’t be sure.

Dizziness is my constant companion. Even while standing still or sitting, the room will spin. I frequently reach out to grab things for stability making strangers wonder what I’ve been drinking. Nothing fun, I promise you.

Chronic pain may be the cause of the dizziness rather than FMF, but one provokes the other.

Diagnosing Familial Mediterranean Fever

Diagnosing FMF is relatively simple. There is a genetic test that is now FDA approved. Specific gene mutations confirm that someone has the disorder. My mutation is in the MEFV gene.

Even though diagnosing FMF has become easier, it can take a very long time to get that diagnosis. Many doctors have never heard of FMF. In fact, none of my doctors, including the internist that ultimately diagnosed me, had ever heard of FMF before seeing me.

I spent years seeing doctors of various specialties, enduring test after test, and spending thousands of dollars. From drinking white sludge to eating radioactive eggs, I’ve been through them all.

Every test came back normal except for high markers for inflammation. It was only that small piece of evidence that kept me from believing I was imaging everything.

Many doctors feel it’s important to rule out everything else before even considering FMF. Several patients reported they had their appendix or gallbladder unnecessarily removed before receiving an accurate diagnosis.

FMF is generally a hereditary disorder caused by receiving a recessive gene from both parents. I say “generally” because no one in my family has any signs or symptoms of the disease. Up to 25% of individuals with FMF have only one MEFV pathogenic variant identified. I have no idea how mine got mutated.

Treating Familial Mediterranean Fever

The most common treatment for FMF is colchicine, the same medicine frequently prescribed for gout. In most patients, colchicine stops or reduces the number of attacks.

I have not been so lucky. Colchicine has done a lot to decrease the amount of abdominal pain I experience, but I typically have an attack every week. Fevers are still an almost daily occurrence.

There are a few biologics that are proving to be effective for some patients. I tried one, an insanely expensive shot, and was deathly ill for the next month. No, thank you.

During a severe attack, the pain is so intense that even walking becomes difficult. Part of this is because the inflammation has caused widespread neuropathy.

If I was playing health-conditions bingo, I’d have a nearly full card by now.

Happily, I don’t have as many severe attacks now that I am taking colchicine several times a day.

Enduring Familial Mediterranean Fever

Through online communities, I have been able to connect with a few other FMF patients. A common thread in all our experiences is how much the disease limits normal life.

One single mom recently posted how her daughter is suffering from the illness and has spent much time away from school and in the hospital. The daughter is only 14 years old. My heart breaks for her.

The disease can devastate you, but life doesn’t have to stop.

Learning to pace yourself and to rest when you need it can reduce the frequency and intensity of attacks. Proper nutrition and low impact exercise are equally important.

FMF is the biggest reason I only work four days a week most of the year. I have Wednesdays off which gives me a chance to rest so I can handle Thursday and Friday.

Most things are an effort for me, whether it is working in my yard or spending time with friends. Finding a balance is a constant struggle. I’ve learned repeatedly — and the hard way — that pushing myself when an attack is starting makes things much worse.

For now, I keep going. I won’t accept defeat. Neither should you.

Until next time, keep fighting.

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