Familial Mediterranean Fever: Mimics fibromyalgia, arthritis, inflammation

Familial Mediterranean fever (FMF) is a genetic condition of inflammatory episodes that cause painful joints, pain in the abdomen, or pain in the chest — often accompanied by a fever. This condition often shows up first in childhood with unexplained fever and aches and pains.

This article explains how to check your genetic data for Familial Mediterranean Fever mutations. People with familial Mediterranean fever can be misdiagnosed as having fibromyalgia, myofascial pain syndrome, or gouty arthritis. Genetic mutations can explain recurrent episodes of pain.

What is familial Mediterranean fever (FMF)?

FMF is an auto-inflammatory (genetic) condition that causes intermittent, recurrent episodes that can include:

• fever
• pain in a joint (often different joints each episode)
• inflammation/pain in the abdomen or chest

Sometimes the inflammation can cause a rash or headache as well as inflaming the membrane around the spinal cord or testicles.

Triggering FMF episodes:

For about half of FMF patients, the episodes are preceded by a prodromal period – feeling off and knowing that the joint pain and fever or night sweats are coming.[ref]

FMF is a genetic, auto-inflammatory disease

FMF was classically thought of as an “autosomal recessive” genetic disease, which required the inheritance of two mutated genes.

With the recent prevalence of genetic testing, researchers find that FMF is a disease with a range of symptoms.

FMF symptoms sometimes show up in those who are heterozygous (one copy) for the mutations and other times not affecting those who are homozygous (2 copies).

MEFV is the gene responsible for familial Mediterranean fever. MEFV encodes a protein called pyrin, which interacts with the immune system.

Pyrin regulates interleukin-1 beta (IL1B), which is a cytokine important in inflammatory responses, including fever.[ref] Interleukin-18 (IL18) is also elevated in patients with MEFV mutations.[ref]

While there are over 310 different MEFV mutations that have been identified and linked to familial Mediterranean fever, there are a few (E148Q, M680I, M694I, M694V, and V726A – listed below) that “account for as many as 80% of FMF cases in classically affected populations”.[ref]

Results of recent research show that up to 30% of FMF cases are heterozygous (one copy) for a MEFV mutation.[ref]

On the other hand, some people who carry one or two copies of the MEFV mutation have no symptoms. Researchers theorize that there may be another genetic mutation also involved – or – environmental factors.

• A recent study found that those with European ancestry usually have milder symptoms than those of Mediterranean ancestry.[ref]
• The gut microbiome may also be involved, with changes to the microbiome found in those in acute attacks.[ref]

Long-term harm: For people with frequent attacks, the long-term consequences of FMF can include amyloidosis and kidney failure, so definitely talk with your doctor if you have the genetic variants along with symptoms.

Familial Mediterranean Fever is often misdiagnosed as fibromyalgia, gout, or arthritis

Aching joints or muscles, pain in the abdomen, pain across the chest — these symptoms describe a number of different rheumatoid-type diagnoses.

Numerous studies show an overlap of conditions with symptoms similar to FMF.

It isn’t clear if the presence of the MEFV gene variants makes the original diagnosis more likely – or if patients were misdiagnosed in the first place.

Trade-offs: the good part of the mutation?

For many deleterious mutations that are relatively common in the population, there is a trade-off between the mutation symptoms and resistance to disease.

Example: people with sickle cell anemia have resistance to malaria… Thus, people with the sickle cell mutation that live in areas with malaria are more likely to survive childhood and pass on the mutation to their children.

Researchers have found that people with familial Mediterranean fever mutations do have a positive trade-off: resistance to Yersinia pestis, the bacteria that causes the plague.[ref][ref]

Lifehacks: Natural solutions for familial Mediterranean fever

Herbal Supplements:

There were several studies and clinical trials of ImmunoGard, a herbal-based supplement for familial Mediterranean fever, which showed positive results a few years agot.[ref][ref]

However, I can’t find it sold online anywhere…

The ingredients of ImmunoGard include: “Andrographolide (4 mg/tablet), Eleuteroside E, Schisandrins and Glycyrrhizin,”. Andrographolide, found in Andrographis extract, is an herb used for boosting the immune system and included in some Lyme disease protocols. Schisandrins is from Eleutherococcus senticosus (Siberian ginseng), and glycyrrhizin is found in licorice.

Due to the increase in IL-1B, natural inhibitors of IL-1B such as quercetin or genistein may help.[ref][ref] This is just a guess on my part, though, and I haven’t found any studies specific to FMF with either of these flavonoids. You can find quercetin in many fruits and vegetables as well as being available as a supplement. (Quercetin is a methyl donor, so use it with caution if you are sensitive to methyl supplements.)

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