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Genetic test can confirm diagnosis of Familial Mediterranean Fever

10/12/2010

CU-2010-Mediterranean FeverFamilial Mediterranean Fever (FMF) is a periodic fever syndrome that is often misdiagnosed. When not properly treated, FMF can lead to irreversible organ damage, particularly to the kidneys. While it is sometimes seen in other ethnic populations, it is most common among people of Middle Eastern descent, especially those of Armenian heritage, one in seven of whom are carriers of the genetic mutation responsible for the disease. Sephardic and Ashkenazi Jews, Turks and some Arabs are also high-frequency carriers of the mutation. FMF is a recessive genetic disease, meaning that when both parents are carriers, there is a one-in-four chance with each pregnancy of producing a child who suffers from the condition.

With large communities of Armenian-Americans and other high-risk groups of Middle Eastern origin living in the Los Angeles area, UCLA specialists have become leaders in the diagnosis and management of this otherwise rare disease. UCLA’s Familial Mediterranean Fever clinic has been treating patients for over 40 years and is the largest clinic of its kind in the Western Hemisphere. UCLA is one of only a few centers in the nation that offers full genetic testing for FMF.

Diagnosing the disease

The classic symptoms of FMF include attacks of abdominal pain and fever lasting for one to three days. These attacks are self-limited and can occur at varying intervals. In between attacks, patients are asymptomatic. The abdominal pain is a peritonitis-type pain, where the abdomen becomes very rigid and patients are unable to walk or eat. The fever can be very high, ranging up to 105 degrees in children.

Variation in symptoms — particularly in the period between acute attacks, which can be as short as a week or as long as a year — can make diagnosis a challenge. The abdominal pain and fever symptoms resemble those of a number of more common conditions, including appendicitis, cholecystitis and some infections and other inflammatory conditions. Diagnosis is particularly difficult in pediatric patients. Symptoms are often erratic in young children, becoming more regular during adolescent years. Collecting accurate information relating to the nature of the attacks and the intensity of pain can be more difficult with pediatric patients as well.

To help make the diagnosis in difficult situations when the diagnosis isn’t clear, UCLA offers genetic testing. It is one of only a few centers in the country with the capability to do so. In addition to full gene sequencing, which examines every letter of the genetic code, UCLA offers a more limited test that can detect the 12 most common of the approximately 70 genetic mutations found on the MEFV gene that controls FMF. This test can detect about 80 percent of FMF cases and is less expensive than full gene sequencing.

Risk of organ damage

The periodic attacks of pain and fever associated with FMF, while themselves not life-threatening, are painful and inconvenient for patients. A much more serious health threat is amyloidosis, a condition in which an abnormal protein called amyloid gets deposited in the body’s organs, most prominently the kidneys. Amyloid proteins appear in response to inflammation. If left untreated, this condition can progress to end-stage renal disease, requiring dialysis.

Treatment

FMF can be well managed with the drug colchicine, a safe and affordable medication that has been used to treat gout for over 100 years. Colchicine prevents acute attacks of pain and fever and the build-up of amyloid proteins.

UCLA offers comprehensive expertise for FMF patients, with specialists ranging from the DNA-level up through every organ system affected by the disease. Experts include medical geneticists, gastroenterologists, pediatric rheumatologists, nephrologists and specialists in pediatric allergy and immunology. UCLA physicians have the knowledge and experience to make difficult diagnoses and offer effective treatment. In cases where the diagnosis turns out not to be FMF, UCLA has the resources to care for patients whatever their condition.

Absence of specific, consistent symptoms can make diagnosis of FMF a challenge

“The symptoms of FMF are non-specific and can easily resemble common infections, appendicitis, gallbladder pain — any number of common conditions that physicians would tend to think of first,” says Wayne Grody, M.D., Ph.D., UCLA professor of path-ology and laboratory medicine, pediatrics and human genetics. “These patients often have had emergency appendectomies, only to find out that their appendix is completely normal.”

While FMF classically presents with acute attacks of abdominal pain and fever approximately once a month, a diagnosis can be difficult when the symptoms vary from the expected pattern. Not only can the frequency of the attacks differ markedly, but the pain may not appear as expected either. “FMF causes inflammation of serosal surfaces and usually causes pain in the abdomen. But it can occur anywhere in the body causing pain, for example, in the joints or the lining of the lungs,” Dr. Grody explains.

To help definitively diagnose ambiguous cases, UCLA is one of only a few centers in the nation to offer complete genetic testing for FMF.

Team Members

Wayne Grody, M.D., Ph.D.
Professor
Departments of Pathology and
Laboratory Medicine,
Pediatrics and Human Genetics
Director, UCLA Diagnostic
Molecular Pathology Laboratory
Attending Physician, UCLA Medical
Genetics Clinic and UCLA FMF Clinic

Terri Getzug, M.D.
Associate Clinical Professor of Medicine
Division of Digestive Diseases
Medical Director, UCLA Familial
Mediterranean Fever Clinic

Robert Roberts, M.D.
Professor of Pediatrics
Division of Allergy and Immunology

Deborah McCurdy, M.D.
Associate Professor of Pediatrics
Division of Pediatric Rheumatology

Michelle Fox, M.S.
Adjunct Assistant Professor of Pediatrics
Division of Medical Genetics
Genetic Counselor

Contact Information
(310) 825-1597 Familial Mediterranean Fever Clinic
(310) 206-6581 Pediatric Genetics
(for patients under 16 years of age)





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