Familial Mediterranean Fever - Jewish Genetic Disease

Description
Familial Mediterranean fever is a rare autosomal recessive genetic disease which involves recurrent fevers, rashes and painful inflammation of the, lungs, abdomen and joints. The episodes generally last 12-72 hours and if untreated can lead to kidney failure due to buildup of certain protein deposits.

Symptoms
Individuals with Familial Mediterranean Fever suffer from the following:
   • Recurring bouts of fever, most commonly with severe abdominal pain due to inflammation of the abdominal cavity (peritonitis)
   • Arthritis (painful, swollen joints)
   • Chest Pain from inflammation of the lung cavity (pleurisy)
   • Skin Rashes.
   • Some affected individuals develop amyloidosis- a potentially deadly buildup of protein in vital organs such as the kidneys.

In most people the symptoms begin between the ages of 5 to 15, although it has started as late in life as age 52. The duration and frequency of attacks vary greatly in the same patient, and there is no set rhythm or periodicity to them. An acute episode usually lasts 24 to 48 hours, but some may last for as long as 10 days. The attacks tend to occur every 2 to 4 weeks, but may be as infrequent as annually. The severity of the attacks may decrease with age. The development of amyloidosis can also reduce the frequency of attacks.

Incidence and Carriers
As many as one in 200 people in these populations have the disease and as many as one-in-five to one-in-seven carry the mutated Familial Mediterranean Fever gene.

A person must inherit two mutated copies of the gene, one from each parent to get Familial Mediterranean Fever.

The disease is transmitted through heredity. Both parents have to carry the mutated gene for there to be a possibility of transmission to their child.
If both are carriers:
   • There is a One in Four chance that the child will inherit the mutated gene from each parent and have the disease
   • There is a One in Four chance that the child will inherit normal genes from both parents and be completely free of the disease.
   • There is a Two in Four chance the child will inherit one of a mutated gene from one parent and a normal gene from the other parent, and in this case, be a carrier like the parents, but free of the disease.

Treatment
The only treatment for Familial Mediterranean Fever is a drug called Colchicine which patients have to take every day for their life. This medication has the side effects such as diarrhea and abdominal cramps.

Testing
Diagnosis: by symptoms and genetic testing.
Carrier testing for the FMF gene.

Resources and More
      Drs. Avi Livneh and Deborah Zemer
    Heller Institute for Medical Research
    Sheba Medical Center
    Tel Hashomer, Israel
    FAX #: 011 972 3 530 7002

    Center for the Study and Treatment of Jewish Genetic Diseases
    at UPMC Health Systems
    Contact: Erin O’Rourke, M.S.
    Toll Free 800-334-7980
    Email: eorourke@helix.hgen.pitt.edu

    National Foundation for Jewish Genetic Diseases Inc.
    250 Park Avenue, Suite 1000
    New York, NY 10017
    Telephone 212-371-1030

Support Groups
Yahoo Group - Familial Mediterranean Fever
http://groups.yahoo.com/group/fmf_support/