What is the MEFV gene?

2020-12-25 by No Comments

What is the MEFV gene?

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.

Which methods are used to detect MEFV gene mutation?

MEFV genotyping Molecular diagnosis of mutations was carried out by ARMS-PCR, PCR-RFLP and sequencing methods. A total of twenty one different genotypes were identified between 78 FMF patients.

What is FMF test?

The Invitae Familial Mediterranean Fever Test analyzes MEFV, the only gene known to cause familial Mediterranean fever (FMF). This test is indicated for any individual in whom a diagnosis of FMF is suspected based on clinical symptoms, laboratory findings, or positive family history.

What does MEFV stand for?

View/Edit Mouse. MEFV (Mediterranean fever) is a human gene that provides instructions for making a protein called pyrin (also known as marenostrin). Pyrin is produced in certain white blood cells (neutrophils, eosinophils and monocytes) that play a role in inflammation and in fighting infection.

What triggers FMF attacks?

Attacks can be triggered by fatigue, stress or physical effort. Recurrent fevers during early childhood are often the initial symptom of FMF. Temperatures can rise rapidly often spiking to 100-104 degrees Fahrenheit (or up to >40 degrees Celsius).

Is FMF a disability?

As a chronic, recurrent disorder, FMF can cause short-term disability and significantly impair a person’s quality of life. Fortunately, newer anti-inflammatory drugs have all but eliminated many of the more severe manifestations of the disease.

Can FMF be without fever?

Fever may be the first and only symptom of FMF, especially in toddlers [5]. In FMF patients who are treated with colchicine, an acute attack may occur without fever. Abdominal pain — In Middle-Eastern populations where FMF is common, up to 95 percent of the patients with FMF have episodic abdominal pain [1].

What are symptoms of FMF?

Signs and symptoms of familial Mediterranean fever include:

  • Fever.
  • Abdominal pain.
  • Chest pain.
  • Achy, swollen joints.
  • A red rash on your legs, especially below your knees.
  • Muscle aches.
  • A swollen, tender scrotum.

How do you get tested for FMF?

Tests and procedures used to diagnose familial Mediterranean fever include:

  1. Physical exam. Your doctor may ask you about your signs and symptoms and conduct a physical exam to gather more information.
  2. Review of your family medical history.
  3. Blood tests.
  4. Genetic testing.

Is there a genetic test for FMF MEFV?

There is a genetic test for the FMF gene mutation (MEFV). The FMF genetic mutation has a protein that helps to code the pyrin protein, that is similar to the pyrin domain for MWS, FCAS and NOMID/CINCA, but it is of a different genetic origin. FMF is much more common that FCAS, MWS, or NOMID/CINCA as well.

When to use familial Mediterranean Fever ( MEFV ) test?

Preferred test when clinical symptoms are suspicious for familial Mediterranean fever. Unique test identifier. Process (es) used to perform the test. Days of the week the test is performed.

Is there a regulatory region for MEFV sequencing?

Regulatory region, intronic mutations and large deletions/duplications will not be detected. This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration.

What kind of mutation causes familial Mediterranean fever?

There are a number of known mutations causing FMF, but the most common is M694V. Familial Mediterranean Fever (FMF) often presents with longer episodes of fever, and FMF can cause arthritis (especially in the ankles), along with many other symptoms.