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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Periodic peritonitis
  • Recurrent polyserositis
  • Benign paroxysmal peritonitis
  • Periodic disease
  • Familial paroxysmal polyserositis
  • Periodic fever
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Home > Genetic & Rare Diseases Information Center (GARD) > Familial Mediterranean fever



Familial Mediterranean fever
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Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), inflammation of the lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Between attacks, people commonly are symptom-free. Without treatment, FMF can lead to kidney failure due to a build up of certain protein deposits (amyloidosis). FMF is usually inherited in an autosomal recessive fashion and is caused by mutations in the MEFV gene.[1][2]


References
  1. Learning about Familial Mediterranean Fever. NHGRI Web site. July 2010 Available at: http://www.genome.gov/12510679. Accessed January 19, 2012.
  2. Familial Mediterranean Fever. Genetics Home Reference (GHR). September 2008 Available at: http://ghr.nlm.nih.gov/condition=familialmediterraneanfever. Accessed January 19, 2012.
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Questions & Answers (Found 7 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Familial Mediterranean fever click on the boxes below:
More Detailed Information Organizations Medical Products Services Scientific Conferences Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 10 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

  • General

    • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) offers printed materials on this condition.  We recommend calling NIAMS toll-free at 877-226-4267 to request this information.
    • Genetics Home Reference (GHR) contains information on Familial Mediterranean fever. Click on the link to go to GHR and review the information.
    • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • 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) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Familial Mediterranean fever. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • 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.
  • Management Guidelines

    • 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. Click on the link to view the article on this topic.
 Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites
Organizations (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information.

  • Disease-Specific Organizations

  • Umbrella Organizations

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • Rare Disease Communities is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for Familial Mediterranean fever.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
 
Medical Products (Found 1 resource)
 Testing | Genetic Services | Parent Resources
Services (Found 5 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • 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.
  • Genetic Services

    • You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:  

  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 Upcoming Conferences | Past Conferences
Scientific Conferences (Found 4 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

  • Upcoming Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
  • Past Conferences

    • Pediatric Rheumatology Research Annual Scientific Meeting, April 20, 2012 - April 22, 2012
      Location: TBA
      Description: The specific objectives of this scientific meeting are: 1. To advance our understanding of the pathogenesis (immune, genetic, epigenetic and inflammatory), epidemiology, and current and innovative therapeutic approaches in pediatric rheumatic diseases 2. To provide a forum for development of collaborations and mentoring for the pediatric rheumatology research community with special attention to young investigators. 3. To provide training and education in major areas relevant to pediatric rheumatology research and the conduct of clinical research 4. To integrate pediatric rheumatology research coordinators into the advancement of the CARRA research strategy and the development of specific research projects by incorporating representatives of the CARRA Research Coordinator Network into all CARRA research working groups
    • Autoinflammation 2010, the Sixth International Conference on FMF and other Autoinflammatory Diseases, September 2, 2010 - September 6, 2010
      Location: Royal Tropical Institute, Amsterdam
      Description: Autoinflammation 2010 was the sixth conference in a series that started more than 10 years ago in Jerusalem. The first conference focused primarily on familial Mediterranean fever (FMF), but soon other hereditary periodic fever syndromes were included. These syndromes were the first to be recognized as autoinflammatory disorders. Recent years have seen an exciting development of scientific knowledge on inflammation and its regulation, and these rare disorders have played a major role in this development. Experts in the field of autoinflammatory disorders, both clinicians and basic scientists, from all over the world met in Amsterdam to exchange research results and opinions on clinical practice. The scientific program included plenary talks, meet-the-expert sessions, interactive workshops, and laptop presentations. Topics ranged from FMF and the other hereditary autoinflammatory diseases to acquired autoinflammatory disorders, such as gout, and from pathogenesis and genetics to clinical phenotype and therapy. Also included was a 1-day program for patients.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
Clinical Trials & Research (Found 5 resources)
Resources where you may find research studies and clinical trials.

    • ClinicalTrials.gov lists trials that are studying or have studied Familial Mediterranean fever. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
    • 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, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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