Familial Mediterranean Fever

Overview

Familial Mediterranean Fever, often called FMF, is a lifelong condition where the body's defence system, the immune system, mistakenly causes inflammation. It is not an infection and cannot be spread to other people. It causes repeated attacks of fever and pain, often in the belly, chest, joints, or skin. Between attacks, most people feel well.

FMF is rare overall. It is much more common in people whose families come from the Mediterranean region, the Middle East, and nearby areas.

FMF can affect children and adults. It is most often seen in people with ancestry from places such as Armenia, Turkey, Arab countries, Israel, Greece, Italy, and other Mediterranean areas. It affects males and females.

Symptoms

Common symptoms

• Sudden high fever
• Belly pain that can be severe
• Chest pain that may hurt more when breathing deeply
• Joint pain or swelling, often in a knee or ankle
• Muscle pain, especially in the legs
• A red or swollen rash, sometimes on the lower leg or ankle
• Feeling very tired or unwell during an attack
• Constipation or diarrhoea during an attack

Symptoms in children

• Fever and belly pain may be the main signs
• Children may seem well between attacks
• Repeated attacks can lead to missed school days
• Chest pain or joint swelling may be the first sign in some children
• Parents may notice the child is irritable or very tired before an attack

Symptoms in older adults

• Attacks may be less typical or milder
• Joint symptoms may be more noticeable
• Diagnosis may be delayed because symptoms are mistaken for other conditions
• Kidney problems may be found later if the condition has not been treated
• Regular follow-up is important to protect kidney and heart health

Causes

Main causes

• FMF is caused by changes in a gene called MEFV. This gene helps control inflammation.
• The gene changes are inherited, meaning they are passed down from parents to children.
• A person can inherit the gene changes without knowing it. FMF is not caused by food, stress, or poor hygiene.

Risk factors

• Having family roots in the Mediterranean region, the Middle East, or nearby areas
• Having a family member with FMF or with repeated unexplained fevers
• Having a parent who carries a changed MEFV gene
• Consanguinity, meaning parents who are close blood relatives, can raise the chance in some families

When to see a doctor

See a doctor urgently if:

• You have a first attack of severe belly pain, chest pain, or joint swelling
• You have a high fever with confusion, stiff neck, or a new rash
• You have blood in your urine or much less urine than usual
• You cannot keep fluids down or feel very dehydrated
• Your child has a fever and severe pain that does not settle

Book a routine appointment if:

• You have repeated attacks of fever with belly, chest, joint, or skin symptoms
• You have a family history of FMF and want to know your risk
• Attacks are affecting school, work, sleep, or daily life
• You are planning a pregnancy and have FMF or a family history of FMF
• You want to review your treatment or discuss ongoing symptoms

Diagnosis

There is no single test that proves FMF. Doctors make the diagnosis by listening to your symptoms, checking your family history, examining you, and using tests to rule out other causes. A genetic test can help, but it does not always give a clear answer. Sometimes doctors suggest a trial of daily anti-inflammatory treatment and watch whether attacks improve.

Tests that may be done

• Blood tests to look for signs of inflammation and to check kidney and liver function
• Urine tests to check for protein or blood, which can be signs of kidney strain
• Genetic testing for changes in the MEFV gene
• Imaging, such as an ultrasound or CT scan, to check for other causes of belly or chest pain
• Tests to rule out infections and other conditions that cause repeated fevers

What to expect at your appointment

Diagnosis can take time because FMF can look like many other conditions. Keep a simple symptom diary with dates, fevers, pain, and how long attacks last. Bring a list of family health problems if you can. Ask your doctor to explain each test and what the results mean.

Treatment

FMF is usually treated with daily medicine that lowers inflammation and helps prevent attacks. The goal is to control symptoms and protect organs, especially the kidneys, over the long term. Treatment is usually lifelong, even when you feel well.

Self-care at home

• Take your medicine every day as your healthcare team advises, even between attacks
• Rest and drink fluids during an attack
• Use a heat pack or cool pack on painful joints or muscles if it helps
• Keep a symptom diary to spot patterns and triggers
• Ask your pharmacist before taking any over-the-counter pain or fever medicine
• Keep regular follow-up appointments, even when you feel well

Medical treatments

The main treatment is a daily anti-inflammatory medicine that reduces attacks and lowers the risk of long-term organ damage. It is taken regularly, not just during attacks. If attacks continue, doctors may adjust the dose or add other medicines that target inflammation. Your healthcare team will monitor your kidneys, blood counts, and overall health. Do not start, stop, or change any medicine without talking to your healthcare team.

When is surgery considered?

Surgery is not a standard treatment for FMF. It may be needed only if a complication develops, or if doctors need to rule out other causes of severe belly pain.

Living with this condition

Living with FMF means planning for unpredictable attacks while still doing the things you enjoy. Keep medicines close by, tell teachers or employers about your condition if you are comfortable, and have a simple plan for rest and fluids during an attack. Regular check-ups help catch problems early.

Lifestyle tips

• Build a regular sleep routine
• Stay physically active between attacks, choosing gentle exercise if you are recovering
• Manage stress where you can, since stress can sometimes trigger attacks
• Avoid smoking and keep heart and kidney health in mind
• Plan travel with enough medicine and a copy of your treatment plan
• Ask your healthcare team about work, school, or travel letters

Diet and exercise

There is no special FMF diet, but eating balanced meals and drinking enough water supports general health. Exercise is encouraged between attacks. During a fever or severe attack, rest and fluids matter more than exercise. Ask your healthcare team for advice if you have kidney problems or joint symptoms.

Mental health and emotional wellbeing

FMF can be stressful because attacks are unpredictable. It can cause worry, missed school or work, and strain on family life. These feelings are valid. Talking to a counsellor, joining a support group, or sharing concerns with your healthcare team can help. If you ever feel overwhelmed or have thoughts of harming yourself, contact your local crisis support or emergency services right away.

Prevention

FMF cannot be prevented because it is caused by inherited gene changes. However, early diagnosis and consistent daily treatment can greatly reduce attacks and help prevent serious complications. This is why repeat fevers and pain should not be ignored.

Vaccines

There is no vaccine for FMF. Keep up with routine vaccines recommended by your healthcare provider, and ask before travel about any extra vaccines you may need.

Screening programmes

If you have a family history of FMF, talk with your doctor or a genetic counsellor about family screening and genetic testing. Screening can help relatives get diagnosed early, even if they have only mild symptoms.

Complications

If left untreated

• Amyloidosis, a build-up of an abnormal protein that can damage the kidneys and other organs
• Kidney problems, which can become serious over time
• Long-term joint damage in some people
• Frequent hospital visits and missed school or work
• Growth problems in children if the condition is severe and untreated
• Anaemia and ongoing tiredness from chronic inflammation

Long-term outlook

The outlook is hopeful. With early diagnosis and steady treatment, most people have fewer attacks and a normal lifespan. Some people still have breakthrough symptoms, so regular follow-up and open communication with your healthcare team are important.

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