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Gene change
- Familial Mediterranean fever is caused by a gene change (mutation) that's passed from parents to children. The gene change affects the function of an immune system protein called pyrin, causing problems in regulating inflammation in the body. In people with FMF, change occurs in a gene called MEFV.
www.mayoclinic.org/diseases-conditions/familial-mediterranean-fever/symptoms-causes/syc-20372470Familial Mediterranean fever - Symptoms & causes - Mayo Clinic
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Many different mutations of the MEFV gene can cause the disorder. Having one mutation is unlikely to cause the condition. Having two mutations (either a copy from both parents, or two different mutations with one from each parent) is the threshold for a genetic diagnosis of FMF.
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Signs and symptoms of familial Mediterranean fever usually begin during childhood. They occur in bouts called attacks that last 1-3 days. Arthritic attacks may last for weeks or months.
Signs and symptoms of FMF attacks vary, but can include:
•Fever
•Abdominal pain
•Chest pain, which can make it hard to breathe deeply
•Painful, swollen joints, usually in the knees, ankles and hips
See your health care provider if you or your child has a sudden fever accompanied by pain in the abdomen, chest and joints.
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Familial Mediterranean fever is caused by a gene change (mutation) that's passed from parents to children. The gene change affects the function of an immune system protein called pyrin, causing problems in regulating inflammation in the body.
In people with FMF, change occurs in a gene called MEFV. Many different changes in MEFV are linked to FMF. Some changes may cause very severe cases, while others may result in milder signs and symptoms.
Factors that may increase the risk of familial Mediterranean fever include:
•Family history of the disorder. If you have a family history of FMF, you have a higher risk of the disorder.
Complications can occur if familial Mediterranean fever isn't treated. Inflammation can lead to complications such as:
•Amyloidosis. During attacks of FMF, your body may produce a protein called amyloid A, not typically found in the body. Buildup of this protein causes inflammation, which can cause organ damage.
•Kidney damage. Amyloidosis can damage the kidneys, causing nephrotic syndrome. Nephrotic syndrome occurs when your kidneys' filtering systems (glomeruli) are damaged. People with nephrotic syndrome may lose large amounts of protein in their urine. Nephrotic syndrome can lead to blood clots in your kidneys (renal vein thrombosis) or kidney failure.
•Joint pain. Arthritis is common in people with FMF. The most commonly affected joints are the knees, ankles and hips.
•Infertility. Untreated inflammation caused by FMF may affect the reproductive organs, causing infertility.
•Other complications. These can include inflammation in the heart, lungs, spleen, brain and superficial veins.
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Sep 30, 2010 · Familial Mediterranean fever is primarily a genetic disease due to Mendelian-recessive inheritance of Mediterranean fever gene mutations. Occurs mainly in people of Mediterranean ancestry, especially from Arab countries, Turkey, Israel, and Armenia.
Jul 31, 2023 · Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that mainly affects people of Mediterranean origin. FMF is characterized by recurrent episodes of fever and serositis (chest, abdomen, joints), leading to painful attacks early during childhood.
- Harshil Bhatt, Marco Cascella
- 2023/07/31
- 2021
Apr 25, 2024 · Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes (attacks) of fever and acute inflammation of the membranes lining the abdomen, joints and lungs.
Jul 16, 2023 · Familial Mediterranean fever (FMF) is a rare genetic disorder that is primarily seen in some ethnic populations. It is also sometimes called familial paroxysmal polyserositis or recurrent polyserositis.
Jun 29, 2017 · Familial Mediterranean Fever (FMF) is an autosomal recessive inherited disease, which means it appears only in individuals who received two copies of the mutant (altered) gene that causes FMF, one from each parent.
