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July 25, 2010 | 5:18 pm
Familial Mediterranean Fever: An Interview with Terri Getzug M.D.
Posted by Norman Lavin, M.D, PhD., UCLA Medical School
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No, familial Mediterranean fever is not a fever you get when you go on a Mediterranean cruise with your family. It is a rare autosomal recessive genetic disease with recurrent fevers, rashes, and painful inflammation of the abdomen, lungs, and joints. The episodes can last up to three days at a time and, if not treated, can lead to certain complications, such as kidney failure. It primarily affects populations emanating from the Mediterranean area. The disease is very ancient – probably beginning over 2500 years ago.
I had the privilege of interviewing Dr. Terri Getzug, who is a specialist in gastroenterology and Associate Clinical Professor of Medicine at the David Geffen School of Medicine at UCLA. Outside of Israel, Dr. Getzug is one of the few experts in Familial Mediterranean Fever (FMF), and at UCLA she directs a premiere dedicated clinic devoted to the recognition and treatment of this complex and challenging disorder.
Dr. Lavin: How do these patients present and what are their symptoms?
Dr. Getzug: Often, patients come to the doctor complaining of recurrent attacks of severe abdominal pain caused by peritonitis (an inflammation of the abdominal cavity) accompanied by fever. Sometimes, chest pain can occur due to pleuritis (an inflammation of the lung cavity). Some patients manifest arthritis (painful swelling of the joints), which occurs in 75% of North African Jews. Others develop a skin rash, and still others present with amyloidosis – a potentially deadly buildup of protein in vital organs, such as the kidney. This is the most severe complication, which, if not prevented and treated, can lead to end-stage kidney failure.
Dr. Lavin: How often do these events occur and at what age?
Dr. Getzug: As FMF is a genetic disease, it can manifest at any age after birth. The peak incidence is between 5 to 15 years of age; although it rarely can begin as late as age 30 (90% of patients are diagnosed by age 20). The frequency of attacks is variable, but specific for each patient; they can occur weekly to once annually. An episode can last 24 – 72 hours, and between attacks, patients are completely well.
Dr. Lavin: Other than the unique clinical presentation, can laboratory tests help make the diagnosis?
Dr. Getzug: Not really. Lab testing during an attack is nonspecific, but genetic testing can help make the diagnosis. This diagnosis generally is based on three factors: (1) typical clinical presentation; (2) a positive response to treatment with a medicine called colchicine; and (3) genetic testing.
Dr. Lavin: What are the long-term complications?
Dr. Getzug: The major cause of morbidity and mortality for FMF patients is secondary amyloidosis, which has declined markedly with the advent of treatment with Colchicine. Amyloid is a protein which forms in response to chronic inflammation. Amyloid deposition occurs in the kidneys, spleen, liver and gut, and to a lesser degree in other organs. The kidney is the most frequently involved organ leading to renal failure if not treated early with colchicine. Another complication is disabling arthritis, usually occurring in the hip joints and sometimes requiring hip replacement.
Dr. Lavin: Tell us about the genetic makeup of patients with FMF.
Dr. Getzug: The cloning of the FMF gene (MEFV) in 1997 made genetic testing possible. Since FMF is inherited as an autosomal recessive trait, two mutations (one from each parent) is required for clinical disease, but some patients have only one mutation and some have none detectable. Currently, with standard genetic testing, we are able to detect 13 of the most common mutations. There is a 1 in 4 chance that a child will inherit normal genes from both parents; therefore, he/she will not get the disease. There is a 2 in 4 chance that a child will inherit one mutated gene from one parent and a normal gene from the other parent; therefore, the child will be a carrier like his parents, but free of disease.
Dr. Lavin: What is the ethnic makeup of these patients?
Dr. Getzug: FMF has been described primarily in Sephardic Jews, Armenians, Turks, North Africans, Arabs and less commonly Greeks and Italians. More than 90% of Jewish FMF patients are of Sephardic or of Middle Eastern origin. In North African Jews, the carrier rate is 1 in 6, with clinical disease occurring in 1 in 256 people of that ethnic population. In Israel, the clinical disease ratio is 1 in 500. FMF affects both sexes in a similar ratio. Even though the prevalence is high, there is incomplete penetrance, so that not everyone who has the two mutated genes has the complete clinical presentation.
Dr. Lavin: What causes FMF? Is it an autoimmune disease?
Dr. Getzug: FMF is not an autoimmune disorder, like lupus for example, since it does not respond to steroids or other immunosuppressant medications, and autoantibodies have never been demonstrated. The specific cause is unknown, but it is probably an inflammatory process in which inflammation sporadically is triggered and runs unchecked, attacking specific tissues in the body.
Dr. Lavin: What is the treatment?
Dr. Getzug: Colchicine (which is used for gout) is the treatment of choice. About 80 – 90% of patients respond with complete remission, and virtually all others show some improvement in attack frequency and severity. Although the exact mechanism of action is unknown, colchicine is believed to exert its effect on a specific type of protein in white cells that may be responsible for the clinical inflammation in this disorder.
Dr. Lavin: Thank you Dr. Getzug for your expertise and your ongoing commitment to enhancing the health of the Jewish Community.
For further information contact:
Terri Getzug, M.D.
Director, Familial Mediterranean Fever Clinic
Division of Digestive Diseases
David Geffen School of Medicine at UCLA
(310) 825-1597
The information contained on this web site is provided for your general information only. Please be advised that this information is not intended to supplement the medical direction you would receive from your personal physician.
Please feel free to interact and engage in discussion with other readers. Thank you for visiting this site.
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for patients left untreated, fmf becomes a chronic illness that never entirely goes away. It is being misdiagnosed as everything under the sun. Cortisone can and does help with the inflammation of fmf attacks. It does nothing for the disease itself, but medical documentation agrees that cortisone can be used w/colchicine for fmf patients.
In general, there is no role for corticosteroids in the treatment of FMF. They have not been shown to prevent attacks or to treat attacks once they occur. 90% of patients with FMF will have their attacks prevented by daily colchicine use.
“In general, there is no role for corticosteroids in the treatment of FMF. They have not been shown to prevent attacks or to treat attacks once they occur. 90% of patients with FMF will have their attacks prevented by daily colchicine use.”
It depends upon use of colchicine from infancy and the ethnic origin of the patient. Cortisone use helps control inflammation, pain and swelling IF the colchicine is not enough to deter the exacerbations.
The MEDICAL DOCUMENTATION for cortisone use for FMF patients is out there. FIND IT!
I know of NO ONE whose exacerbations completely stopped with colchicine usage. It lessens the length and strength of the flares. I am doubtful that colchicine stopped exacerbations in 90% of those afflicted.
Nancy
Familial Mediterranean Fever? sounds new for me..
this can be treated? what are the factors of being pre disposed to FMF?
Very informative, Thanks!. gout pain treatment
FMF is an inherited illness for which over 180 gene mutations have been found. NIH is in trials for this illness. Colchicine is the standard treatment for FMF and it works well for most people.
Unlike for gout, you take colchicine 0.6mg twice to three times daily for life.
Predisposing criteria is ethnicity - Mediterranean heritage of any kind altho some groups show more than others.
In the US it is being misdiagnosed as everything under the sun because doctors think it is rare. I do not believe that is correct.
See: http://www.melungeonhealth.org
for more and connecting links.
Nancy
I have a double mutation gene of FMF, and lately my attacks have been happening on a weekly basis. I also have an enlarged spleen, so it makes the perotinits even more un-tolerable so bad that its hard to breath. I’m thinking that it may be something else, is there a specialist that I could maybe see or talk to about why these flare ups are occuring so often? I was diagnosed in 2005 with FMF, I was 20yrs old, because I was having the abdominal pain on a weekly basis at that time as well. I take my colchicine religously everyday and when I get an attack, but the pains have been recurring like it did 5 years ago. I don’t know what to do, and I hate being in pain.
Oh, my descent is Lebanese. My parents are first cousins, and so are my grandparents on both sides of the family…first cousins, wasn’t a good idea for my parents to do that huh? I have two older brothers and one younger, the oldest brother has FMF, the other two don’t. We were all born in MI, USA…but that has nothing to do with anything. Just don’t marry your first cousin!
Sress is one of the most common causes of FMF flares or exacerbations. Any kind of stress. Injuries, strains, sprains etc can cause a flare, even getting ready to go on vacation. For some people certain foods may cause a problem. Check first for lactose intolerance, then things like gluten. Keep a food diary and do check with your doctor, a gastroenterologist would be a good one to see.
Nancy
Rola,
We would be happy to see you at UCLA in the FMF Clinic. The phone number is listed above in Dr. Lavin’s interview.
Last Wednesday, I suffered from extreme abdominal pains and felt hot with cold chills. I have had this feeling before, but it has been many years since I have had a bout of abdominal pain. Within 24 hours later from this last episode, I am left with a really bad cold. Not sure if somehow my immune system was going down when I got this abdominal pain, but after which I got really sick (flu-like symptoms).
I am not sure if I have FMF. I am 38 year old female of Armenian descent. How do I go about getting tested, if need be?
Lorine:
Please call Dr. Terri Getzug at 310 825 1597
I am very happy that I found your journal and will be contacting the office of Dr. Terri Getzug.
My diagnosis was Polyartheritis Nodosa about 35 years ago and I may have been misdiagnosed, it seems that I may be have been living with FMF flareups for 30+ years. I am thankful for the website of Nancy and the diagram of FMF. My ancestors were Sephardic Jews from Surinam but I was raised in Holland and spend 3 months in the hospital in Rotterdam in the 70’s. They just could not figure out what to do with me. I was seen by MD’s from around the world at Sophia Kinderziekenhuis. Well I am hoping that my records and 35 year old story may also help someone out there once everything is confirmed and bring rest to my body finally. I am sending for my DNA test as well. It has been difficult to go the doctor to try and explain symptoms that are difficult to explain because “you don’t look sick” I am hopeful that someone will finally listen to my story.
I did my test and it came back negative so now I am totally getting discouraged because I feel that I have to prove myself again. I have been trying to keep my stress level down. The flareups have been about about twice a month and the worst one was about a year ago. I felt like someone was stabbing me with a knife in my back I had to sleep sitting up.
Anyway I really hope someone can help me.
My (currently 22 year old)daughter was diagnosed with FMF last year by clinical presentation and response to Colchicine. After years of issues her condition peaked @ about 20. She is in constant pain in between attacks and additionally has horrible side effects from the colchicine. She has no life. My husband is Jewish, my background is Morroccan/Majorcan. We are having difficulty finding a specialist who has more than a textbook knowledge of the disease in S. Florida. Any suggestions? Or hope? Though she improves between attacks, she is constantly sick.
There are several people on the yahoogroups support group for FMF who live in FL and have doctors there. I suggest that you go to yahoogroups and look for fmf_support. I moderate the group.
Also it MAY be the BRAND of colchicine that she is taking. Some of us find that one brand is better for us than another. We don’t know why YET.
Nancy
I am a 62 year old female with attacks of peritonitis every 6 months and Dr mark linkow just did DNA testing revealing fmf.I have had this for 10 years and my 24 hour urine was negative for amyloidosis but I cannot get up to theraputic levels of cochine and am on .3 mg daily with side affects of nausea,lethargy,muscle pain and neuopathy when increase it.it the interacts badly with lisinopril 60mg so I do not know from here which way to go as other antihypertensives make me sick.I am a registered hospice nurse in denver Colo so I can understand the medical terminology but have always been sensitive to medication.other drugs I take are simvastin ,hctz,nortryptilene
Please join our mailing list for more help. There are ways to get on colchicine without the side effects. You also need to know that some folks respond to one brand better than another and we can tell you how to check out other brands. Also cortisone treatment can help with pain until you can get to optimal dosage of colchicine. There is medical documentation of this statement. See:
FMF Support mailing list:
.(JavaScript must be enabled to view this email address)
Nancy
mrs. wilhem,
this is a difficult problem. i would be happy to talk to you more about this issue. as nancy mentions above, there are different brands of colchicine that one could try and it is possible to get desensitized to colchicine under medical supervision. my office number is 310-825-1597.
Hi Dr. Getzug
I tried calling your office just to let you know what happened to me not even sure if you remember talking to me. I feel my case is unique because I am mixture of Sephardic and African. Well anyway my doctor did put me on colchicine eventhough the FMF test came back negative and I stopped coughing and my flareups are at a very minimum. I had been coughing for almost two years and was averaging several flareups a month with severe back pain. I had hoped my information would be helpful for others because I thought because of my ancestry it would help others in South America that are descendants of Jews and Africans but maybe I will do it via my own website because I truly want to help and feel others maybe misdiagnosed out there I have not even been diagnosed with FMF yet but it really doesn’t matter my records and my own health are evidence enough for me. I lived with this for thirty years that is a very long time. I am very thankful for Nancy for listening to me and all the information from the forum have been a blessing in my life. I am on colcrys and am thankful.
Dear Dr, Getzug
My daughter developed rectal bleeding a few days after an acute gastritis, which required hospitalization for a couple of days for dehydration and balancing low potassium levels(stool wasn’t tested for blood during the hospitalization itself), at 4 months of age. She was breastfeeding.She was put on Prevecid thereafter to alleviate gastric symptoms.At 11 months ,she was diagnosed with IBD with no extracolonic disease based on colonoscopy. She worsened with the initiation of steroid therapy, and many blood testing was subsequently done.She has a consistant high WC as well as low Albumin, a homozygous gene of the MEVF type Val726ala was found, as well as some immunologic blood work for Chronic Granulomatous disease was done twice and was slightly abnormal one of the times.Some other tests of T cell and NK cells where inconclusive in some of the testing. She is being treated by DR Harland Winter who Directer of IBD center at Massachusets General Hospital at Boston MA. I am wondering
if you have some advice or imput which would be greatly appreciated. Thanks