What is FMF disease?
What is FMF disease?
Familial Mediterranean fever is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, lungs and joints.
What is Pyrin Inflammasome?
The pyrin inflammasome has evolved as an innate immune sensor to detect bacterial toxin-induced Rho guanosine triphosphatase (Rho GTPase)-inactivation, a process that is similar to the “guard” mechanism in plants.
How is FMF treated?
Initial treatment of FMF is with colchicine. Colchicine — Colchicine is primarily effective as a prophylactic treatment for the FMF attacks. It is recommended in all patients regardless of the frequency and intensity of attacks.
How do you get diagnosed with FMF?
A diagnosis of FMF can be confirmed by molecular genetic testing, which can identify the characteristic MEFV gene mutations that cause the disorder. Molecular genetic testing is available through commercial and academic diagnostic laboratories.
Is FMF life threatening?
With early and regular treatment, individuals with FMF can live a normal lifespan and may even be free of symptoms. The disease has the potential to be life-threatening if the patient develops kidney failure (which may result when a person is untreated or does not respond to treatment).
What is the NLRP3 Inflammasome?
The NLRP3 inflammasome is a critical component of the innate immune system that mediates caspase-1 activation and the secretion of proinflammatory cytokines IL-1β/IL-18 in response to microbial infection and cellular damage.
What is Inflammasomes in health and disease?
Inflammasomes are a group of protein complexes that recognize a diverse set of inflammation-inducing stimuli that include PAMPs and DAMPs and that control the production of important pro-inflammatory cytokines such as interleukin-1β (IL-1β) and IL-18 (refs 4, 5).
Is FMF serious?
Untreated individuals with FMF have a risk of infertility. Individuals with severe FMF characterized by multiple frequent episodes and/or amyloidosis are particularly at risk if untreated. In males, inflammation of the testes (orchitis) may also occur.
What does FMF pain feel like?
Some individuals with FMF have painful, swollen and bright red (erythematous) skin lesions on the lower legs. These lesions resemble a skin infection called erysipelas. They may be warm or hot to the touch and most often occur between the ankle and the knee.
What is the test for FMF?
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.
Can FMF be without fever?
FMF diagnosis is supported by the presence of fever lasting less than 2 days, chest and/or abdominal pain, ethnicity. Otherwise, the absence of: fever lasting more than 6 days, enlarged cervical lymph nodes, urticarial rash, aphthous stomatitis supports the diagnosis [20].
Who treats FMF?
If you have signs and symptoms of familial Mediterranean fever, you may begin by seeing your family doctor. You may be referred to a doctor who specializes in inflammatory diseases (rheumatologist).
What are some examples of genetic mutations?
Examples of gene mutations include Marfan syndrome, cystic fibrosis and sickle cell disease. Chromosome mutation occurs when there are changes in the number or structure of the chromosomes. The mutation in relation to numbers typically occurs by the time the zygote is forming or developing inside the womb.
What does a mutation do to the genetic sequence?
Mutations are changes in the genetic sequence, and they are a main cause of diversity among organisms. These changes occur at many different levels, and they can have widely differing consequences.
What is the EFEMP2 genetic mutation?
EFEMP2 mutations cause a form of the disorder called autosomal recessive cutis laxa type I, which is characterized by loose and sagging skin, a lung disease called emphysema, and severe abnormalities involving the heart and blood vessels. Mutations in the EFEMP2 gene likely prevent cells from producing any functional fibulin-4. Without this protein, elastic fibers cannot be assembled normally in the extracellular matrix.