The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abdominal pain | 90% |
| Abnormality of temperature regulation | 90% |
| Arthralgia | 90% |
| Constipation | 90% |
| Myalgia | 90% |
| Nausea and vomiting | 90% |
| Abnormality of the oral cavity | 50% |
| Abnormality of the pleura | 50% |
| Chest pain | 50% |
| Diarrhea | 50% |
| Erysipelas | 50% |
| Proteinuria | 50% |
| Seizures | 50% |
| Abnormality of the pericardium | 7.5% |
| Acute hepatic failure | 7.5% |
| Arrhythmia | 7.5% |
| Ascites | 7.5% |
| Coronary artery disease | 7.5% |
| Edema of the lower limbs | 7.5% |
| Gastrointestinal infarctions | 7.5% |
| Intestinal obstruction | 7.5% |
| Lymphadenopathy | 7.5% |
| Malabsorption | 7.5% |
| Meningitis | 7.5% |
| Nephrocalcinosis | 7.5% |
| Nephropathy | 7.5% |
| Nephrotic syndrome | 7.5% |
| Orchitis | 7.5% |
| Osteoarthritis | 7.5% |
| Pancreatitis | 7.5% |
| Skin rash | 7.5% |
| Splenomegaly | 7.5% |
| Vasculitis | 7.5% |
| Arthritis | - |
| Autosomal recessive inheritance | - |
| Elevated erythrocyte sedimentation rate | - |
| Episodic fever | - |
| Hepatomegaly | - |
| Leukocytosis | - |
| Pericarditis | - |
| Peritonitis | - |
| Pleuritis | - |
| Renal amyloidosis | - |
| Renal insufficiency | - |
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
Bacterial Toxins Make The Body Go Boom: Familial Mediterranean Fever Study Gives Insight on Immunity
June 8, 2016
Autoinflammation 2013: The Seventh International Congress of FMF and Autoinflammatory Diseases Wednesday, May 22, 2013 -
Sunday, May 26, 2013
Location:
Lausanne,
Switzerland
Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.
Contact: Daniel Kastner, M.D., Ph.D., 301-496-8364kastnerd@nih.gov
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
Autoinflammation 2010, the Sixth International Conference on FMF and other Autoinflammatory Diseases
Thursday, September 2, 2010 -
Monday, September 6, 2010
Location: Royal Tropical Institute,
Amsterdam,
The Netherlands
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.
Contact: Daniel Kastner, M.D., Ph.D., 301-496-8364kastnerd@nih.gov
Co-funding Institute(s): Office of Rare Diseases Research, National Institute of Arthritis and Musculoskeletal and Skin Diseases
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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. Submit a new question
I was diagnosed with familial Mediterranean fever (FMF) as a child. I have been taking daily doses of colchicine which have helped in reducing or practically eliminating the abdominal and chest attacks. One aspect of the FMF that has not been helped is the swelling of feet resulting from sitting for several hours during long flights or when walking long distances. The swelling of the feet is also usually associated with severe cramps of the calf muscles. Is this common and are there any treatments which help these symptoms? See answer
How is amyloidosis diagnosed in those with familial Mediterranean fever? How is the effectiveness of colchicine monitored? See answer
My son has been found to carry a single familial Mediterranean fever (FMF) gene mutation. Could he still have FMF? See answer
Are there any precipitating factors for Familial Mediterranean Fever attacks? See answer
I have a patient who may have Williams syndrome. His mother was previously diagnosed with familial Mediterrranean fever, but she has facial features consistent with Williams syndrome. Do Williams syndrome and familial Mediterranean fever share any signs or symptoms? See answer
We recently lost a colleague to Familial Mediterranean Fever. Are his siblings at risk to have inherited this condition? Is genetic testing available to individuals at risk? See answer
What is familial Mediterranean fever (FMF)? Is there any connection between fibromyalgia and FMF? Has any link been established between a family history of arthritis and FMF? See answer
I have had symptoms of Familial Mediterranean Fever since an early age. I was diagnosed through a gene test a few years ago. I would like to learn about the disease, including the prognosis of the condition and available support. See answer
