Familial Mediterranean Fever (FMF)
What is Familial Mediterranean Fever (FMF)?
FMF means Familial Mediterranean Fever. It is an inherited disease characterized by recurrent high fever and painful inflammation of the abdomen, lungs, and joints
What Causes FMF?
FMF (Familial Mediterranean Fever) is caused by a gene mutation that is transmitted from parent to child, causing problems in regulating inflammation in the body. Relevant mutation comes true in the gene called MEFV.
What Are the Symptoms of FMF?
- Symptoms usually appear in childhood. It progresses alternately with attacks and periods when there is no complaint about the disease.
- Fever that occurs in the first 24 hours of the attacks and can exceed 40 degrees decreases on the second and third days.
- 90% of patients experience abdominal pain.
- Recurrent attacks of inflammation are seen in membrane-covered areas of the body such as the abdomen, lungs, and heart. These can occur with or without fever.
- Chest and muscle pains are frequently seen.
- Swelling and pain occur in the joints, primarily in the feet and knees.
- Red rashes are seen in the skin areas between the ankle and knee.
- Constipation may occur, followed by diarrhea.
- A pain that is usually unilateral and can increase in intensity within 12 hours may occur in the scrotum of men. Sometimes this pain may be accompanied by swelling and redness.
Who Gets FMF?
It is a genetic disease especially seen in Mediterranean countries. It is common in North Africa, Turkey, Greece, Armenians, Arabs, Jews and Italians. Although there is an ethnic predisposition, it can be seen in every person.
How is FMF Diagnosed?
Clinical findings, family history, examination findings, blood tests made during the attack and laboratory tests are evaluated for the diagnosis of FMF disease. The extent of inflammation in the body also reveales. FMF genetic tests are applied for the mutation in the MEFV gene that causes the disease for definitive diagnosis.
How is FMF Treatment Performed in the RTM approach?
The aim of the RTM approach is not to suppress the symptoms of FMF disease directly, but to eliminate the underlying factors of the disease. In the RTM approach, this is called the Treatment Triad.
Treatment Triad includes the processes of starting the detox process to return to the normal state of balance in the body, eliminating the imbalance in the malfunctioning systems and reversing the epigenetic changes in DNA. This process is planned completely individually.
The main part of the treatment triad is RTM Phytotherapy. The phytotherapy protocol is determined by evaluating the detailed anamnesis, laboratory and imaging findings of the individual, and measurements specific to RTM clinics. With the RTM Phytotherapy protocol, the disease triad, which forms the source part, is treated by withdrawing. By informing the body with plants, it is aimed to normalize the epigenetic changes in the DNA underlying the disease. In order to adapt the body to the normalization process of this information, a treatment protocol specific to RTM is applied.
With the acceleration of detox activities in the body and the initiation of repair processes, the treatment triad that will regulate the systems is activated. Besides, when the disease triad is withdrawn, the body automatically returns to the normal form.
In the RTM treatment protocol, in addition to phytotherapeutics, nearly 25 traditional medicine methods such as Ozone, Cupping, Acupuncture, Magnetic field therapy are planned according to the needs of the patient in order to both support the body and accelerate the treatment process.
In the RTM approach, the patients included in the treatment protocol are followed up with very close follow-up processes. Follow-up periods are weekly, 2 weeks, monthly, 40 days and 4 months (3×40 days). The frequency of calls for treatment is determined by considering criteria such as the severity of the person’s current illness, the level of toxicity, irregular blood pressure and blood sugar values, presence of acute infection, and the patient’s needs. At the end of 4 months (3×40 days) treatment, the general condition of the patient is evaluated. The response of the patient’s body to the treatment is compared with the recorded complaints and medical findings at the beginning of the treatment.
By revealing the change in the disease basis, a prediction is made about how long the treatment will continue.
Frequently Asked Questions
How common is FMF?
FMF is most common in countries bordering the Mediterranean. The prevalence of the disease in high-risk populations is between 1 and 3 per thousand. The incidence in our country is 1/1000. It is rare in ethnic communities other than Mediterranean countries.
Is FMF hereditary?
FMF is an hereditary disease. For the disease to occur, it is necessary to have 2 mutated genes from both the mother and the father. Sometimes, carrying only one of some mutations that have a strong disease-causing effect may be sufficient for the disease to occur. Often, parents do not show symptoms of the disease because carriers do not have the disease themselves but have the mutated gene. Fifty percent of patients have another FMF patient among relatives.
What caused Familial Mediterranean Fever in my child? Is it preventable?
Children who carry the mutated genes that cause FMF can have the disease. If one of the parents has FMF and the other is a carrier, there is a 50% chance of their children having the disease.
Is Familial Mediterranean Fever Communicable?
Familial Mediterranean Fever, ie FNF, is not a communicable disease. It is genetically transmitted.
Is the disease in children different from the disease in adults?
In general, FMF in children is similar to that in adults. However, some effects of the disease such as joint inflammation (arthritis) and muscle inflammation (myositis) are more common in childhood. Periorchitis, that is, inflammation around the testicles, is more common in children than in adult men. The risk of amyloidosis, which is a condition caused by the precipitation of the protein called ‘amyloid’ in various tissues and organs, is also higher in early-onset and untreated patients. In general, the frequency of attacks decreases as the person gets older.
What is the colchicine treatment?
Colchicine is a drug used in the treatment of different rheumatic diseases and is obtained from the crocus flower. It is used in the treatment of various diseases, especially FMF, Gout, Behcet’s disease. It is necessary to use colchicine strictly according to the recommendation of the physician following the disease. The dosage is very important. In order to determine the dose to be used, it is decided according to the disease, its severity and the age of the patient.
The most important side effects that can be seen due to colchicine are the decrease in white blood cells and the side effects that may have on the liver. For this, the physician following the treatment usually requests regular blood tests from the person using the drug. In addition, diarrhea due to colchicine is a common side effect. Usually, this side effect can be eliminated by reducing the dose. However, the most important point is that the treatment and its effects are followed closely by the physician.
Does familial Mediterranean fever prevent pregnancy?
There is no obstacle for patients or carriers of Familial Mediterranean Fever patients to become pregnant.
I am an FMF patient, I have been using colchicine for years. How much longer will I use it?
Since colchicine protects FMF patients from attacks, it is beneficial to use it for life as determined under the supervision of a doctor.
I have FMF, I have just given birth. Is it safe to use colchicine while breastfeeding?
Since colchicine protects FMF patients from attacks, patients should continue their colchicine treatment while they are breastfeeding. Since colchicine does not pass into breast milk, it can be used safely in this period.
Are the colchicines used in familial Mediterranean fever different from each other? What is French colchicine?
Colchicine is the main drug of FMF disease and there are two preparations in our country. One of them is Colchicumdispert dragee and the other is Kolsin dragee and both contain 0.5 mg of colchicine. There is no definitive data on colchicine preparations brought from abroad, especially from European countries, to be more effective or have less side effects.
On the other hand, the active drug ratios in colchicine preparations abroad may be different from here. Colchicine tablets, called French colchicine and sometimes used in our country, are 1 mg. Colcrys in the United States contains 0.6 mg of colchicine. For this reason, if a transition from domestic preparations is in question, dose adjustment should be made carefully along with a consultation from a physician. Otherwise, side effects or poisoning may occur from the use of high-dose colchicine.
Does familial Mediterranean fever cause renal impairment?
Familial Mediterranean Fever (FMF) causes a buildup of a protein called amyloid in about one in 10 patients. If amyloid precipitates in the kidneys, it causes renal impairment.
What does amyloid accumulation in the kidney mean and what problems can it cause?
The condition caused by the precipitation of the protein called Amyloid in various tissues and organs is called Amyloidosis. When it occurs in the kidney, protein loss develops in the urine as a result of the deterioration of the filtering ability of the kidneys, and after a certain time it can turn into kidney failure.
What does it mean if familial Mediterranean fever patients carry one or two genes?
The mutated gene for familial mediterranean fever may be inherited only from one parent or from both parents. Studies have found double mutations in approximately 60-70% of FMF cases, and a single mutation in 20-30%. In addition, no mutation was detected in approximately 10% of them. If the person carries a single gene mutation without clinical symptoms, no treatment is required in carriers who do not experience symptoms.
Can familial Mediterranean fever patients have muscle aches?
Patients with familial Mediterranean fever may experience pain after prolonged standing or exercise, especially in the calves. Rarely, painful swelling may occur. Very rarely, widespread muscle aches lasting 3-4 weeks may occur with high fever.
Can patients with familial Mediterranean fever (FMF) have low back pain?
Low back pain can be experienced in familial Mediterranean fever (FMF) disease. Some cases of FMF can be observed together with inflammatory rheumatic diseases characterized by spondyloarthropathy, especially spine involvement.
Which organs can familial Mediterranean fever disease (FMF) affect?
FMF attack can occur in the joint membrane, peritoneum, pleura, and pericardium. It can be seen mostly in large and single joints such as ankles, knees and hips, and sometimes in the spinal joint called the sacroiliac joint. Skin rashes may occur in accompanying diseases such as vascular inflammation, vasculitis, Behcet’s disease. When amyloidosis occurs, it can lead to the conditions such as protein leakage from the kidney and kidney failure. When amyloid accumulates in the small intestine, it can disrupt the absorption of various substances, causing diarrhea, weight loss and abdominal pain. In the large intestine, diarrhea, abdominal pain and sometimes constipation can be seen.
Can a patient with familial Mediterranean fever (FMF) have the disease despite negative genetic tests?
A patient who is thought to have familial Mediterranean fever (FMF) may have the disease despite negative genetic tests. No mutation was detected in approximately 10% of the patients.
I am being followed up with the diagnosis of familial Mediterranean fever (FMF). Should I also have my children genetically tested?
People who have no complaints but have been diagnosed with FMF do not need to have their children tested. In order to diagnose FMF disease, they must first have complaints about the disease. The genetic tests used for FMF are essentially tests to help diagnose, not diagnostic tests. Therefore, even if the parent has FMF, there is no need for an extra test if the child has no complaints.
Does familial Mediterranean fever (FMF) cause swelling in the ankles?
Familial Mediterranean fever disease causes swelling in the ankles. It is one of the most common symptoms of FMF. Sometimes it can be the initial sign of the disease. Sometimes it can occur in the form of recurrent attacks.
What are the side reaction of colchicine used in the treatment of familial Mediterranean fever (FMF) disease?
It is very important to use colchicine in appropriate doses and times, and therefore it should be used under the supervision of a physician. Side effects that may occur when used incorrectly or in the wrong dose are as follows:
- It may cause problems in the gastrointestinal tract, complaints such as nausea, vomiting, diarrhea, and abdominal pain.
- It can cause a decrease in white blood cells and coagulation cells.
- Weakness in the musculoskeletal system, myopathy may occur.
- In rare cases, it can lead to nerve involvement.
- It may cause acute kidney failure in the elderly and people with impaired kidney function.
Can there be vascular involvement (vasculitis) in familial Mediterranean fever (FMF) disease?
It is known that a kind of vasculitis known as Henoch Schönlein purpura, which causes inflammation in the wall of small vessels, is seen more frequently in familial Mediterranean fever cases than in the normal population.
Does familial Mediterranean fever (FMF) cause chest pain?
In approximately 30-45% of patients with FMF, the membrane that covers the lungs becomes inflamed. This condition causes pain, often accompanied by fever that increases with breathing.
Another condition that can cause chest pain in Familial Mediterranean Fever is inflammation of the pericardium. It is estimated that this involvement, called pericarditis, is seen in approximately 2-3% of patients. It causes pain in front of the heart or behind the chest wall, sometimes alternating with bending forward. These attacks usually last 2-3 days.
Is genetic testing necessary in the diagnosis of familial Mediterranean fever (FMF)?
The diagnosis of FMF is made by examining the history of the disease, symptoms, physical examination, and the results of laboratory tests such as sedimentation, CRP, and fibrinogen, which show inflammation during the attacks. In the diagnosis process, genetic tests are not obligatory, but can be used as an element to support the diagnosis.
Is there a cure for familial Mediterranean fever (FMF)? Do I have to take medicine for life?
Familial Mediterranean Fever, which is a genetic disease, is a lifelong disease that progresses in attacks. However, thanks to early diagnosis and appropriate treatment, many Familial Mediterranean Fever patients can lead a normal life. The effectiveness of the treatment is preventive and should continue for life. It is possible to pass the attacks lightly and open their intervals.
Continuing the treatment recommended by the physician regularly, eating a balanced diet, exercising, maintaining weight control and a healthy lifestyle away from stress can help manage the symptoms caused by FMF and maintain general health.
How does an FMF attack occur?
FMF is a disease that occurs in recurrent attacks. During the attacks, which can last for about 3-4 days, fever, abdominal pain due to inflammation in the peritoneum, pain and stinging in the chest in case of lung involvement, joint pain and swelling may be experienced in case of arthritis.
Can male FMF patients have children?
Familial Mediterranean fever (FMF) does not prevent men from having children.
Which foods should not be consumed by those with FMF disease?
Those with FMF should follow a balanced and healthy diet like everyone else. They should try not to go below the ideal weight and not to go above it. It is important not to skip meals and not to eat large and heavy meals. In particular, they should avoid refined sugar, prepared foods, foods with additives, fatty and fried foods, trans fats, carbonated drinks and white flour.
Is Mediterranean Fever a chronic disease?
Like many genetic diseases, Familial Mediterranean Fever is not a temporary, but a chronic, long-term disease. Therefore, its treatment and control should be planned to last a lifetime.
Can FMF patients get pregnant?
Familial Mediterranean Fever does not prevent pregnancy.
Can FMF patients do sports?
Familial Mediterranean Fever does not prevent doing sports. This may change depending on the symptoms that the person experiences during the attacks.
Does colchicine cause infertility?
It is known that colchicine treatment applied at appropriate doses does not cause infertility. It is thought that such a problem may rarely occur when used in high doses and if there are other concomitant diseases.
What does FMF carrier mean?
People who have never experienced the symptoms of the disease but are known to carry the mutated gene are considered carriers.
Which plant is good for Mediterranean fever?
In the treatment of familial Mediterranean Fever, the drug named colchicine obtained from the crocus flower is used.
Does CRP rise in an FMF attack?
In blood tests performed during FMF attacks, the levels of values such as CRP, sedimentation, and fibrinogen are found to be high, but these values are not specific to FMF only.
What should be consumed during an FMF attack?
It is recommended to consume fish and yoghurt rich in vitamin D in order to spend more comfortable periods of familial Mediterranean Fever (FMF) attacks. In addition, fatty and heavy meals should be avoided.
What triggers Mediterranean fever?
Vitamin D deficiency may increase attacks in patients with Familial Mediterranean Fever (FMF). Exposure to very cold or very heat triggers inflammation in the joints. It is important to consume enough water.
Does colchicine cause B12 deficiency?
When the studies were compared with the control group, a statistically significant amount of vitamin B12 deficiency was observed in patients using colchicine.
Is it possible to have FMF without fever?
High fever is not a symptom that always occurs for Familiar Mediterranean Fever (FMF). There are also cases that progress without fever. However, if the fever rises, the body temperature can even exceed 40 degrees.