Familial Mediterranean Fever (FMF) is a recurrent fever, the auto inflammatory condition of the joints, chest and abdomen. It is not contagious but is inherited, usually affecting families from the lands near the Eastern Mediterranean Sea. Patients mainly include persons of Arab, Sephardic Jewish, Turkish or Armenian ancestry. Geneticists estimate that 60 percent of Turks and 75 percent of North African Jews are affected. The cause of FMF is a damaged MEFV autosomal recessive error on gene number 1.
Both parents must carry a copy of the damaged gene in each of the cells in their bodies to have a child with the active disease. The parents don’t show evidence of the disease, but their children have a one-in-four chance of having FMF. Half the rest of the children will be carriers of the gene like their parents, and one child will not have any sign of the damaged gene. Rarely other damaged genes cause FMF. It is rare, but FMF can occur in families of any descent. The disease often first occurs in childhood or adolescence.
Ninety percent of FMF patients are diagnosed by age 20. Rarely, the condition may first be expressed in adulthood and is often less severe. Often, patients have a characteristic rash on the lower legs. The typical incident can last from 48 to 96 hours with an average peak of painful symptoms at about 12 hours. The time lapse between attacks can range from days to many years. Between episodes, an individual usually has no signs, but some children have such frequent attacks that they never fully recover or even grow properly. Several medical specialties help care for FMF patients, including rheumatologists, medical geneticists, immunologists, and nephrologists.
1. Abdominal Pain
Abdominal pain is a classic feature of FMF. The inflammatory process can cause severe damage to many organs and structures in the abdomen. About half the patients have abdominal attacks, and some have many. The pain can be intense and is frequently confused with the passage of gallstones, kidney stones or appendicitis. Many patients undergo unnecessary surgery as a result of misdiagnosis. There is a likely danger of peritonitis during abdominal attacks. It is crucial that FMF patients make sure that their physicians and any new doctors, especially in emergency rooms, are aware of their disease and know how to treat it.
There may be abnormal examinations and medical tests that may lead to an inaccurate diagnosis. To lessen the frequency and severity of abdominal attacks, colchicine, derived from a natural substance also called autumn crocus, or meadow saffron is an anti-inflammatory agent. It is useful in about 90 percent of patients. If colchicine isn’t well tolerated or effective, biologic therapy is helpful as well. Long-term medical treatment can lessen the number and severity of abdominal attacks in Familial Mediterranean Fever. The drugs are not effective during an acute attack but are for long-term prevention. Drug therapy requires frequent follow-ups by a physician.
[nextpage title=“Next” ]2. Arthralgia
Patients with FMF often have spondylitis (arthritis of the spine), sacroiliitis, (arthritis of the sacroiliac) and peripheral inflammatory arthritis in other joints such as ankles or hips. Patients and their families need to watch for the first signs of joint pain. The episodes of joint pain can occur only during periods of exacerbation and be self-limiting. Eventually, the pain and damage may become permanent. Treatment by a rheumatologist, generally using biologic therapy, can help with the resulting pain and reduce the chances of permanent joint damage. The sooner therapy begins with anti-inflammatory agents, the less possibility of permanent damage that may require joint replacement or other surgery.
[nextpage title=“Next” ]3. Constipation
After an FMF attack involving the abdomen, constipation and other digestive problems is frequent. A gastroenterologist can help patients who have resulting gastrointestinal effects. These include pain, mechanical or paralytic ileus (obstruction of the bowel), diarrhea, ascites (fluid in the tissues), malabsorption, bleeding and infarction of the intestine. Children frequently have bouts of diarrhea. These effects from FMF can be severe and debilitating. Some researchers think a high-fat diet may make the digestive issues worse. When a patient is having abdominal symptoms during an attack, the supervising physician should arrange a consultation with a gastroenterologist. Colchicine therapy may also cause constipation and diarrhea.
[nextpage title=“Next” ]4. Fever
Familial Mediterranean Fever is primarily a febrile disease. That is, fever is an integral part of the disorder. It is often the first symptom that heralds an oncoming attack. In fact, FMF is the most common of the Periodic Fever Syndrome diseases. In an FMF febrile episode, a sudden rise in body temperature may cause a fever of up to 104 degrees Fahrenheit. If you or a loved one with FMF suddenly spikes a fever, call the supervising physician immediately to begin treatment for a possible acute FMF attack. The standard treatment for febrile symptoms is nonsteroidal anti-inflammatory drugs (NSAIDs).
[nextpage title=“Next” ]5. Myalgia
Myalgia is severe muscle aches. FMF patients frequently have pain in various muscle groups, sometimes so severe that they can’t use the muscles. The cause can be spontaneous, induced by exercise, or from a syndrome called Protracted Febrile Myalgia Syndrome (PFMS). This syndrome features severe and perhaps paralyzing muscle pain with high fever, diarrhea, abdominal pain, joint pain, and vascular rashes. The episodes can last for as long as four to six weeks. Standard treatment for PFMS is corticosteroid therapy. FMF patients should be under the care of their physician immediately when they experience any severe muscle pain or resulting paralysis.
[nextpage title=“Next” ]6. Kidney Damage
One of the most severe effects of Familial Mediterranean Fever is kidney failure. Amyloidosis is the accumulation of proteins in the kidneys and other tissues in the body. In a few cases, amyloidosis is the first and only FMF symptom. Patients have a lot of protein in their urine that may lead to nephrotic syndrome, causing swelling, especially in the ankles and feet. At that point, dialysis and then transplant are the only options. If an FMF patient shows unusual swelling in the feet and ankles, they should contact their supervising physician immediately. The doctor can make an immediate referral to a nephrologist, a kidney expert.
