Mediterranean Disease is a rare inflammatory disease that affects those of Mediterranean descent.  The only known cause to date of Mediterranean Disease is a genetic cause and thus this disease is inherited and spread genetically.  To date there is no alternate known cause of Mediterranean Disease.

The cause of Mediterranean Disease is a defect of a genetic nature on the 16th chromosome.  The gene that is affected is known as the MEFV and it provides the essential genetic information for a protein that our bodies use called pyrin.  Pyrin is a protein that is responsible for regulating inflammatory processes in our body, and thus when this genetic coding is affected, inflammatory responses will occur in the body.  With Mediterranean Disease, inflammatory responses are the leading cause of symptoms and pain and thus the pyrin protein and its mutations are the direct cause of this pain.
It is not known directly how a defect on the pyrin gene can cause Mediterranean Disease, as this disease affects every patient differently.  There are to date more than 50 known mutations of the pyrin gene, and thus it is postulated that patients with Mediterranean Disease simply do not make pyrin sufficiently. This may result in inflammatory responses that occur that can not be regulated with pyrin, and as such, severe symptoms that result in Mediterranean Disease.  For a patient to be affected with Mediterranean Disease, they must receive this genetic mutation from both of their parents.

Risk factors do exist for Mediterranean Disease, but are not exclusive to every patient.  Men seem to be more susceptible to this mutation than women, and those of Mediterranean Descent or that have a blood relative with Mediterranean Disease are in the highest risk categories.  Most patients are younger than the age of 20, and the most common ethnic group associated with this disease is the Ashkenazi Jewish group where the frequency is suspected at 1 in 135 individuals affected.

Mediterranean Disease is only caused genetically, and can not be spread from one person to another.  The causes to date are definitive, and though there is no cure, treatment of Mediterranean Disease is very effective at relieving symptoms.

This entry was posted on Monday, December 29th, 2008 at 10:38 am and is filed under Causes and Risk Factors of Mediterranean Disease. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.