Is Mediterranean fever common?

What is Familial Mediterranean Fever? FMF is considered a rare disease worldwide. However, it is very common in people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and Turkish heritage. Among people with these backgrounds, about 1 in 200 has FMF.

Is FMF a rare disease?

Although considered a rare disease, it is possible that its diagnosis has been delayed in some countries such as Japan [5]. Molecular genetic diagnostic testing is often used to provide some information on FMF diagnosis [6].

Why is it called Mediterranean fever?

Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid protein called pyrin….

Is Familial Mediterranean Fever a disability?

It is characterized by recurrent bouts of fever, appendicitis-like stomach pain, lung inflammation, and swollen, painful joints. As a chronic, recurrent disorder, FMF can cause short-term disability and significantly impair a person’s quality of life.

What mutation causes familial Mediterranean fever?

Familial Mediterranean fever is caused by variants (also known as mutations) in the MEFV gene. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells.

What type of mutation is familial Mediterranean fever?

These cases are sometimes referred to as FMF type 2. FMF is caused by mutations of the MEditerranean FeVer (MEFV) gene and is basically inherited as an autosomal recessive trait. Some cases of dominant inheritance have been described. FMF is classified as an autoinflammatory syndrome.

Can FMF be without fever?

FMF diagnosis is supported by the presence of fever lasting less than 2 days, chest and/or abdominal pain, ethnicity. Otherwise, the absence of: fever lasting more than 6 days, enlarged cervical lymph nodes, urticarial rash, aphthous stomatitis supports the diagnosis [20].

What is the type of mutation that causes familial Mediterranean fever?

FMF is caused by mutations of the MEFV gene. The disease is inherited as an autosomal recessive trait. Hereditary diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Is FMF life threatening?

With early and regular treatment, individuals with FMF can live a normal lifespan and may even be free of symptoms. The disease has the potential to be life-threatening if the patient develops kidney failure (which may result when a person is untreated or does not respond to treatment).

How is FMF diagnosed?

A diagnosis of FMF can be confirmed by molecular genetic testing, which can identify the characteristic MEFV gene mutations that cause the disorder. Molecular genetic testing is available through commercial and academic diagnostic laboratories.

Is familial Mediterranean fever dominant or recessive?

Familial Mediterranean fever is usually inherited in an autosomal recessive pattern , which means both copies of the MEFV gene in each cell have variants.

Who manages Familial Mediterranean Fever?

If you have signs and symptoms of familial Mediterranean fever, you may begin by seeing your family health care provider. Your health care provider may refer you to a specialist in inflammatory diseases (rheumatologist).

What isfmfamilial Mediterranean fever?

Familial Mediterranean Fever (FMF), also known as paroxysmal polyserositis, is an autosomal recessive disease affecting mainly Mediterranean populations (Jews, Armenians, Arabs, Turks). It is characterised by recurrent crises of fever and serosal inflammation, leading to abdominal, thoracic or articular pain.

Which lab tests are performed in the workup of familial Mediterranean fever (FMF)?

Standard laboratory tests of FMF patients are non-informative, except for the high sedimentation rate and white blood cell count, but during and immediately after crises, diminished albumin concentrations and elevated fibrinogen, C-reactive protein, beta2 and alpha2 M globulins, haptoglobin and lipoprotein concentrations are noted.

How long do episodes of Mediterranean fever last?

The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity.

Which genotypes are associated with amyloidosis in familial Mediterranean fever (FMF)?

The alpha/alpha genotype of the serum amyloid A or SAA1 gene is associated with an increased risk of amyloidosis in FMF patients, especially in patients homozygous for M694V, whereas the MICA (Major Histocompatibility Complex, MHC class-I-chain-related type A) gene seems to have an effect on disease course but not its clinical manifestations.