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Familial Mediterranean fever


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Other Names:
Periodic peritonitis; Recurrent polyserositis; Benign paroxysmal peritonitis; Periodic peritonitis; Recurrent polyserositis; Benign paroxysmal peritonitis; Periodic disease; Familial paroxysmal polyserositis; Periodic fever; FMF See More
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Congenital and Genetic Diseases; Immune System Diseases; Kidney and Urinary Diseases; Congenital and Genetic Diseases; Immune System Diseases; Kidney and Urinary Diseases; Musculoskeletal Diseases See More
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Summary Summary


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Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort.

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. The length of time between attacks is also variable and can range from days to years. During these periods, affected individuals usually have no signs or symptoms related to the condition. However, without treatment to help prevent attacks and complications, a buildup of protein deposits (amyloidosis) in the body's organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.

This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.
Last updated: 11/30/2020

Symptoms Symptoms


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Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever accompanied by pain in the abdomen, chest, joints, pelvis, and/or muscles. Episodes may also be associated with a skin rash or headache, and rarely, pericarditis and meningitis.[1][2][3] Amyloidosis, which can lead to kidney failure, is the most severe complication which can occur if FMF is not treated. In some cases, amyloidosis is the first sign of the condition in a person who otherwise has no symptoms.[3]

Episodes usually last for about one to three days, and the time between episodes can vary from days to years.[4][2] The first episode usually occurs during childhood or the teenage years. In some cases, the first episode occurs much later in life.[1] The majority of people with FMF experience their first episode by age 20.[4] People tend to be symptom-free between episodes.[2]
Last updated: 2/1/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 56 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ]
0002027
Arthralgia
Joint pain
0002829
Constipation 0002019
Fever 0001945
Myalgia
Muscle ache
Muscle pain
[ more ]
0003326
Nausea and vomiting 0002017
30%-79% of people have these symptoms
Chest pain 0100749
Diarrhea
Watery stool
0002014
Erysipelas 0001055
Erythema 0010783
Oral leukoplakia
Oral white patch
0002745
Pleuritis
Inflammation of tissues lining lungs and chest
0002102
Proteinuria
High urine protein levels
Protein in urine
[ more ]
0000093
Seizure 0001250
5%-29% of people have these symptoms
Acute hepatic failure
Acute liver failure
0006554
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
0011675
Ascites
Accumulation of fluid in the abdomen
0001541
Elevated erythrocyte sedimentation rate
High ESR
0003565
Gastrointestinal infarctions
Death of digestive organ tissue due to poor blood supply
0005244
Intestinal obstruction
Bowel obstruction
Intestinal blockage
[ more ]
0005214
Lymphadenopathy
Swollen lymph nodes
0002716
Malabsorption
Intestinal malabsorption
0002024
Meningitis 0001287
Myocardial infarction
Heart attack
0001658
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Nephropathy 0000112
Nephrotic syndrome 0000100
Orchitis
Inflammation of testicles
0100796
Osteoarthritis
Degenerative joint disease
0002758
Pancreatitis
Pancreatic inflammation
0001733
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
0010741
Pericarditis
Swelling or irritation of membrane around heart
0001701
Peritonitis 0002586
Skin rash 0000988
Splenomegaly
Increased spleen size
0001744
Vasculitis
Inflammation of blood vessel
0002633
1%-4% of people have these symptoms
Aphthous ulcer
Canker sore
0032154
Arthritis
Joint inflammation
0001369
Chronic constipation
Infrequent bowel movements
0012450
Crohn's disease 0100280
Episodic abdominal pain 0002574
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ]
0001954
Renal amyloidosis 0001917
Stage 5 chronic kidney disease 0003774
Vomiting
Throwing up
0002013
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Childhood onset
Symptoms begin in childhood
0011463
Elevated C-reactive protein level 0011227
Headache
Headaches
0002315
Hepatomegaly
Enlarged liver
0002240
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ]
0001974
Neutrophilia
Increased blood neutrophil counts
0011897
Pleural effusion
Fluid around lungs
0002202
Young adult onset 0011462
Showing of 56 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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Familial Mediterranean fever (FMF) usually is caused by changes in both copies of a person's MEFV gene. Changes in genes that are responsible for causing disease are also called pathogenic variants, or mutations.[4][1]

Pathogenic variants are usually inherited from one or both parents. There is nothing either parent can do before or during a pregnancy to cause them. Over 80 different pathogenic variants in the MEFV gene are known to cause FMF.[4][1] 

The MEFV gene normally provides instructions for making a protein called pyrin, which is found in white blood cells called granulocytes. It is thought that this protein plays a role in keeping inflammation under control. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease, and pyrin may stop or slow down the inflammatory process once it is no longer needed.[4][1]

When the MEFV gene is mutated and pyrin is not formed correctly or working properly, inflammation is not regulated as it should be. This is thought to result in the painful inflammation, rashes and fever that characterize FMF.[4][1]
Last updated: 6/10/2016

Inheritance Inheritance


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FMF is almost always inherited in an autosomal recessive manner.[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a:
  • 25% chance to have the condition
  • 50% chance to be a carrier like each of the parents
  • 25% chance to not have the condition and not be a carrier

As many as 1 in 5 people of Sephardic Jewish, Armenian, Arab and Turkish heritage is a carrier of FMF.[4]

In rare cases, FMF appears to be inherited in an autosomal dominant manner.[1] This means that to be affected, a person needs to have a mutation in only one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. A person with autosomal dominant FMF has a 50% chance to pass the mutated gene on to each child.

In some cases, FMF may appear to be autosomal dominant when it is actually autosomal recessive. This phenomenon is called pseudodominance.[1]

Last updated: 12/8/2015

Diagnosis Diagnosis


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In making a diagnosis of FMF, doctors take several factors into account:[4]
  • whether a person has symptoms of FMF and whether the symptoms are recurrent
  • how a person responds to colchicine treatment
  • family medical history and ancestry
  • results of genetic testing
Testing for the following may also be helpful to make a diagnosis of FMF:[4]
  • Elevated white blood cell count, which is an indication of an immune response.
  • Elevated erythrocyte sedimentation rate (ESR), which is an indication of an inflammatory response.
  • Elevated plasma fibrinogen, which helps stop bleeding. An elevated amount would indicate that something might be wrong with this mechanism.
  • Elevated serum haptoglobin, which would indicate that red blood cells are being destroyed, a common occurrence in rheumatic diseases, such as FMF.
  • Elevated C-reactive protein, which is a special type of protein produced by the liver that is only present during episodes of acute inflammation.
  • Elevated albumin in the urine, which can be a symptom of kidney disease, along with microscopic hematuria (microscopic amounts of blood in the urine).
Last updated: 12/8/2015

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment


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The goal of treatment for familial Mediterranean fever (FMF) is to control symptoms because there is no cure for the condition.[5]

Treatment of an acute episode may include:[3]
  • Intravenous saline for hydration
  • Nonsteroidal anti-inflammatory drugs (NSAIDs) for fever and inflammatory episodes
  • NSAIDs, paracetamol or dipyrone for pain relief
  • Routine treatment of end-stage renal disease (kidney failure), including renal transplantation

Depending on disease severity or the presence of specific mutations, lifelong treatment with colchicine may be needed. Colchicine prevents inflammatory attacks and the deposition of amyloid. Those who are only mildly affected (with infrequent inflammatory attacks) may either be treated with colchicine or be monitored every six months for the presence of protein in the urine (proteinuria). Others may only be treated with colchicine if they develop severe inflammatory episodes and/or proteinuria as a result of amyloidosis. Those who are unresponsive to oral colchicine may respond to intravenous colchicine, or one of several other medications. Colchicine is not effective as treatment for an acute FMF attack.[3]

There may be other treatments for this condition that have been approved in Europe and other parts of the world.

Last updated: 2/1/2017

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Colchicine (Brand name: Colcrys) - Manufactured by AR Holding Company, Inc.
    FDA-approved indication: Treatment of Familial Mediterranean Fever.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information
  • Canakinumab (Brand name: Ilaris) - Manufactured by Novartis Pharmaceuticals Corporation
    FDA-approved indication: Treatment for Familial Mediterranean Fever (FMF) in adult and pediatric patients; for Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) in adult and pediatric patients; and for Hyperimmunoglobulin D Syndrome (HIDS)/Mevalonate Kinase Deficiency (MKD) in adult and pediatric patients.
    National Library of Medicine Drug Information Portal

Prognosis Prognosis


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People with FMF who are compliant with daily colchicine can probably expect to have a normal lifespan, if colchicine is started before proteinuria develops. Even with amyloidosis, the use of colchicine, dialysis, and kidney transplantation should extend a patient's life beyond 50 years of age.[6]

Last updated: 12/8/2015

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), TNF receptor-associated periodic syndrome and periodic fever (TRAPS), Marshall's syndrome with periodic fever, transthyretin-related amyloidosis and Behçet's disease (see these terms).
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Familial Mediterranean fever. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • FMF & AID Global Association
    Schüracherstrasse 25a
    8306 Brüttisellen
    Switzerland
    Telephone: +41 76 415 4010
    E-mail: info@fmfandaid.org
    Website: https://www.fmfandaid.org/

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The Cleveland Clinic provides an overview of the different types of periodic fever syndromes.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • MedlinePlus Genetics contains information on Familial Mediterranean fever. This website is maintained by the National Library of Medicine.
  • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial Mediterranean fever. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Ancient Disease Could Protect Some From the Bubonic Plague
    September 1, 2020

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Familial Mediterranean Fever. Genetics Home Reference (GHR). June 2014; http://ghr.nlm.nih.gov/condition=familialmediterraneanfever.
  2. Tran M and Spencer FA. Thromboepidemiology: Identifying patients with heritable risk for thrombin-mediated thromboembolic events. American Heart Journal. 2005; 149(1 Suppl):s9-18. https://www.ncbi.nlm.nih.gov/pubmed/15644796.
  3. Mordechai Shohat. Familial Mediterranean fever. GeneReviews. December 15, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1227/.
  4. Learning about Familial Mediterranean Fever. NHGRI. November 2011; http://www.genome.gov/12510679.
  5. Jatin M. Vyas. Familial Mediterranean Fever. MedlinePlus. August 31, 2014; https://medlineplus.gov/ency/article/000363.htm.
  6. Meyerhoff J & Diamond HS. Familial Mediterranean Fever. Medscape. March 2015; http://www.emedicine.com/med/topic1410.htm.
  7. Familial Mediterranean Fever (FMF). Autoinflammatory Alliance. 2014; http://www.nomidalliance.org/fmf.php.
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