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Disease Profile
Familial Mediterranean fever
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
Infancy
ICD-10
E85.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Periodic peritonitis; Recurrent polyserositis; Benign paroxysmal peritonitis;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Kidney and Urinary Diseases;
Summary
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
This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.
Symptoms
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]
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.
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 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
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 |
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 |
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 |
0003774 | |
Vomiting |
Throwing up
|
0002013 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Elevated C-reactive |
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 |
Cause
Pathogenic variants are usually
The MEFV gene normally provides instructions for making a
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]
Diagnosis
- 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).
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 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
There may be other treatments for this condition that have been approved in Europe and other parts of the world.
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; forTumor Necrosis Factor Receptor Associated PeriodicSyndrome (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
Related diseases
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.
|
Organizations
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: [email protected]
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).
Learn more
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.
References
- Familial Mediterranean Fever. Genetics Home Reference (GHR). June 2014; https://ghr.nlm.nih.gov/condition=familialmediterraneanfever.
- 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.
- Mordechai Shohat. Familial Mediterranean fever. GeneReviews. December 15, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1227/.
- Learning about Familial Mediterranean Fever. NHGRI. November 2011; https://www.genome.gov/12510679.
- Jatin M. Vyas. Familial Mediterranean Fever. MedlinePlus. August 31, 2014; https://medlineplus.gov/ency/article/000363.htm.
- Meyerhoff J & Diamond HS. Familial Mediterranean Fever. Medscape. March 2015; https://www.emedicine.com/med/topic1410.htm.
- Familial Mediterranean Fever (FMF). Autoinflammatory Alliance. 2014; https://www.nomidalliance.org/fmf.php.
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