What is FMF?

Familial Mediterranean fever (FMF) is a periodic fever syndrome. Like other periodic fevers, the first symptoms include recurring bouts of fever accompanied by pain. These will usually occur before the patient has reached 30 years of age. [1–5] The difference with FMF disease and other periodic fevers is that it is typically inherited.

References
1. Samuels J, Ozen S. Curr Opin Rheumatol. 2006;18:108–17.
2. Lachmann HJ, Hawkins PN. Arthritis Res Ther. 2009;11:212.
3. Savic S, Dickie LJ, Battellino M et al. Curr Opin Rheumatol. 2012;24:103–12.
4. Gattorno M, Federici S, Pelagatti MA et al. J Clin Immunol. 2008;28(Suppl 1):73–83.
5. Manna R: Familial Mediterranean fever.

Symptoms

Is FMF a rare or common disease?

FMF affects approximately 2.5 people out of 100,000 people in Western countries.[6] It is most prevalent in the eastern Mediterranean region, but from a global point of view it is a rare disease.

What are the symptoms of FMF?

The symptom flares that come with FMF can last anything from a few hours to 3 or 4 days and include: [5,7,8]

  • Fever
  • Stomach and/or chest pain
  • Joint inflammation e.g., knee, ankle, wrist
  • Painful, severe skin redness in nearly 50% of patients, often on the feet and/or lower legs
  • Spleen enlargement
  • Swelling of the ends of fingers and/or toes (digital clubbing)

 

For children, though, fever may be the only symptom.[8] In some cases it is unknown why FMF flares start, but the following common triggers have been identified:[5]

  • Stress
  • Cold
  • Infections
  • Menstrual cycle
  • Some medications
    fmf-graph-v5

    Possible symptoms of FMF (modified according to [3,4,7,8])


    What happens over the course of FMF?

    Left untreated, around 75% of FMF patients will develop amyloidosis.[4] Amyloidosis is a condition in which a protein called amyloid builds up in the kidneys and ultimately leads to kidney failure. Improved FMF diagnosis and treatment of FMF means that kidney damage from amyloidosis occurs less frequently now than it did in the past.
     

    What causes FMF?

    FMF occurs due to changes in the Mediterranean fever (MEFV) gene. Over 300 different changes to this gene have been documented as possible causes of FMF so far.[9]

    References
    1. Samuels J, Ozen S. Curr Opin Rheumatol. 2006;18:108–17.
    2. Lachmann HJ, Hawkins PN. Arthritis Res Ther. 2009;11:212.
    3. Savic S, Dickie LJ, Battellino M et al. Curr Opin Rheumatol. 2012;24:103–12.
    4. Gattorno M, Federici S, Pelagatti MA et al. J Clin Immunol. 2008;28(Suppl 1):73–83.
    5. Manna R: Familial Mediterranean fever.
    www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=342 (Last accessed on 13.10.2013).
    6. Fujikura K. Mol Genet Genomic Med. 2015;3:272–282.
    7. Ciccarelli F, De Martinis M, Ginaldi L. Curr Med Chem. 2014;21:261–269.
    8. Shohat M, Halpern GJ. Genet Med. 2011;13:487-498.
    9. MEFV sequence variants. Available from: http://fmf.igh.cnrs.fr/ISSAID/infevers (accessed November 2015).

    Referral

    An expert on FMF explains the disease

    In this video, Professor Merav Lidar MD, Head of Rheumatology at Sheba Medical Center, explains the symptoms, diagnosis and ongoing management of Familial Mediterranean Fever (FMF).

    Click here for guidance on finding an FMF specialist to consult with about your child’s symptoms, as well as some helpful advice on preparing for their first appointment with an autoinflammatory disease expert.

    Diagnosis

    How can you explain FMF to your child?

    If your child has been diagnosed with Familial Mediterranean fever (FMF), you may find this e-book useful in helping them understand FMF and how it might affect their everyday life.

    Brightly illustrated, insightful and simple, ‘My Friend Effy’ is a story that encourages open conversation, so you can speak with your child about managing their rare condition and about how they feel. Download “My Friend Effy” today and share with those affected by FMF.

    Download our eBook I’m Rare or Living with Recurrent Fever eBook to learn from the experiences of other parents and their children diagnosed with FMF and what it means to live with a rare periodic fever syndrome.

    Treatment

    Download our eBook I’m Rare or Living with Recurrent Fever eBook to learn from the experiences of other parents and their children diagnosed with FMF and what it means to live with a rare periodic fever syndrome.

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    A Day in a Rare - FMF

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              Get advice to help you, if you know someone with a recurrent fever syndrome.

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