Familial Mediterranean fever is a auto-inflamatory disease which is also known as Armenian disease. This disease is caused by mutations in MEFV gene. This gene codes for the protein pyrin which has a chain length of 781 amino acids. Auto inflammatory disease is most common diseases and one of them is Familial Mediterranean fever. Let us discuss briefly about this disease.
In this auto inflammatory disease, our innate immune system is primary affected. This disease shows monogenic heredity (Single Abnormal Gene) as according to genetics, in this affecting item is a protein complex called as Inflammasomes (Pyrins), a multiprotein complex works abnormally.
Under normal conditions inflammasomes activates caspase-1 which leads to releasing of interlukin-1. However, as per the researchers, there is an uncontrolled releasing of IF-1 takes place.
As in study at the genetic level FMF categorizes as Autoimmune recessive heredity, single point mutation (Mutation at one chromosome, another works normally) which leads to inhibition of apoptosis (MEFV– gene that’s get affected in it), causes unlimited amount of IL-1, but as FMF is shows recessive heredity so mutation of both point on chromosome so arising of diseases is very rare.
Most clinical symptoms are abdominal pain, fever frequently. Most of attacks of disease develop spontaneously and in the interval of disease, patients are symptoms free.
Prolonged symptoms are Arthritis and Myalgia.
On attack some constitutional & physical symptoms also occurs like taste alteration, irritability, headaches, weakness, fatigue, abdominal pain (starts with any region and quickly spreads to whole body).
One of the very specific and sensitive tests is Metraminol Provocative Test (MTT).
1. Familial Mediterranean fever http://www.mayoclinic.org/diseases-conditions/familial-mediterranean-fever/basics/definition/con-20025734
2. Learning About Familial Mediterranean Fever https://www.genome.gov/12510679
3. Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic. http://www.nature.com/gim/journal/v13/n3/full/gim9201147a.html
Please be noted that this article is only for education and information purpose.
An article by Sumeet Pareek