What Is Familial Mediterranean Fever?
Familial Mediterranean Fever (FMF) is an inherited inflammatory condition that causes repeated episodes of fever and pain in different parts of the body. It is one of the most common autoinflammatory diseases and usually begins during childhood or adolescence. Although FMF is more common in people of Mediterranean and Middle Eastern backgrounds, it can affect individuals from any ethnic group.
FMF causes sudden attacks of inflammation that can affect the abdomen, chest, joints, skin and sometimes other areas of the body. These attacks can be painful and distressing, but they usually settle on their own after a few days. Between episodes, most children feel completely well and may have no FMF symptoms at all.
Because the attacks come and go, FMF can sometimes be difficult to recognise in the early stages. Children may initially be thought to have repeated infections, stomach problems or unexplained fevers before the correct diagnosis is made.
FMF Symptoms
FMF occurs in episodes or “attacks” that appear suddenly and then resolve. The frequency of attacks varies from person to person. Some children may have several attacks a month, while others may only experience a few episodes each year.
Common FMF symptoms include:
- Recurrent fever
- Severe abdominal pain caused by inflammation of the lining of the abdomen
- Chest pain caused by inflammation around the lungs
- Joint pain, swelling or stiffness, especially in the knees, ankles or hips
- Muscle pain
- Skin rash, usually on the lower legs or feet
- Fatigue during or after attacks
- Episodes that typically last between 1 and 3 days
Abdominal pain is one of the most common symptoms and can sometimes be severe enough to resemble appendicitis or other surgical emergencies. Joint symptoms may also make it difficult for children to walk or take part in sports during attacks.
Between episodes, most children return to normal health and activity.
Causes and risk factors
FMF is caused by changes, also known as mutations, in the MEFV gene. This gene helps regulate inflammation in the body. When the gene does not function properly, the immune system becomes overactive and causes episodes of inflammation even when there is no infection.
FMF is considered an autoinflammatory disease rather than an autoimmune disease. In autoinflammatory conditions, the body’s natural inflammatory response becomes abnormal without involving the antibodies that are seen in autoimmune diseases.
Important risk factors include:
- Family history of FMF
- Having parents who carry the MEFV gene mutation
- Mediterranean, Middle Eastern, Turkish, Arab, Armenian, North African or Jewish ancestry
- A sibling or close relative with similar symptoms
FMF is usually inherited in an autosomal recessive pattern, which means a child often inherits one altered gene from each parent. However, some people with only one MEFV gene mutation may still develop FMF symptoms.
Diagnosis
There is no single test that can diagnose FMF on its own. Doctors usually make the diagnosis based on the pattern of symptoms, family history and test results.
The evaluation may include:
- Detailed medical history
- Family history of recurrent fever or FMF
- Physical examination
- Blood tests during attacks to check for inflammation
- Genetic testing to identify MEFV gene mutations
- Urine tests to monitor kidney function
- Excluding other causes of recurrent fever and pain
Blood tests often show raised inflammatory markers during an attack, while between attacks the results may return to normal.
Genetic testing can help confirm the diagnosis, although not all children with FMF have clearly identifiable mutations.
Treatment options
Treatment for FMF is highly effective and is usually needed for life. The main aim is to reduce the number of attacks, control inflammation and prevent long-term complications.
The most important treatment is:
- Colchicine taken daily to prevent attacks and reduce the risk of complications
Other treatment options may include:
- Pain relief during attacks
- Biologic medications for children who do not respond well to colchicine
- Regular follow-up appointments
- Monitoring of kidney health and urine tests
- Support with managing school attendance, exercise and daily activities
Most children respond very well to colchicine and can live healthy, active lives with few or no symptoms when treatment is taken consistently.
Possible complications
Without treatment, FMF can sometimes lead to a serious complication called amyloidosis. This happens when abnormal protein builds up in organs, especially the kidneys and may eventually cause kidney damage or kidney failure.
This is why early diagnosis and regular treatment are so important.
When to see a doctor
Parents should seek medical advice if a child has:
- Recurrent unexplained fevers
- Severe abdominal pain that comes and goes
- Chest pain during fever episodes
- Joint swelling with fever
- Family history of FMF
- Repeated symptoms without a clear cause
FAQs
Is FMF curable?
There is no cure, but FMF can usually be controlled very effectively with lifelong treatment.
What happens if FMF is not treated?
Without treatment, FMF may lead to complications such as amyloidosis and kidney damage.
Can children with FMF live normally?
Yes. With regular treatment and monitoring, most children with FMF live normal, healthy and active lives.
Takeaway
FMF is a manageable inherited condition that causes repeated episodes of fever and inflammation. Early diagnosis is important because it allows treatment to begin before complications develop. Daily medication, especially colchicine, can greatly reduce attacks and help children enjoy a normal quality of life.