Meyahealth
HomeGeneticsGeneMEFV gene
Back to Gene
MEFV gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MEFV gene

The MEFV gene encodes the protein pyrin, which plays a critical role in regulating the body's inflammatory response.

Normal Function

The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin). Although pyrin's function is not fully understood, it likely assists in keeping the inflammation process under control. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair.

Pyrin is produced in certain white blood cells, including neutrophils, eosinophils, and monocytes. It may direct the migration of these cells to sites of inflammation and help slow the response when it is no longer needed. Pyrin also interacts with other molecules to assemble structures called inflammasomes and helps regulate inflammation by interacting with the cell's cytoskeleton.

Health Conditions Related to Genetic Changes

Familial Mediterranean fever

More than 80 MEFV gene variants have been found to cause familial Mediterranean fever. These variants lead to reduced amounts of pyrin or a malformed protein that cannot function properly, resulting in an inappropriate or prolonged inflammatory response.

  • Most variants change a single amino acid in the pyrin protein.
  • The most common variant, Met694Val (or M694V), is associated with an increased risk of amyloidosis, a complication where abnormal protein deposits can lead to kidney failure.
  • Some variants delete small amounts of DNA, leading to an abnormally small, nonfunctional protein.

Signs of this condition include fever and inflammation in the abdomen, chest, joints, or skin.

Frequently Asked Questions

Diagnosis of FMF combines clinical criteria (recurrent fevers, serositis, arthritis) with molecular testing of the MEFV gene. A positive test identifies pathogenic variants—most commonly M694V, V726A, M680I, or E148Q—confirming the genetic basis of the disease. However, a variant alone does not guarantee symptoms; clinicians interpret results alongside the patient’s history and physical exam.
Colchicine remains the first‑line therapy; daily dosing (0.5–2 mg) usually prevents >90 % of attacks. For colchicine‑intolerant patients, biologics such as anakinra or canakinumab (IL‑1 inhibitors) are effective. Lifestyle measures include staying hydrated, avoiding extreme temperature changes, managing stress, and promptly treating infections, which can trigger flares.
Uncontrolled inflammation leads to chronic elevation of serum amyloid A (SAA); persistent high SAA deposits as AA amyloid in kidneys, causing proteinuria and eventual renal failure. Maintaining colchicine adherence keeps SAA levels low. Regular urine protein checks, renal function tests, and, if needed, adding an IL‑1 blocker can further lower amyloidosis risk.
Carriers of high‑penetrance variants like M694V are at increased risk for future attacks and for amyloid deposition even if asymptomatic. Many physicians start low‑dose colchicine prophylaxis to prevent attacks and monitor inflammatory markers (CRP, serum amyloid A) annually. If attacks never develop, treatment may be tapered, but periodic follow‑up is advised.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ