Summary about Disease
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease primarily affecting people of Mediterranean ancestry (Sephardic Jews, Turks, Armenians, Arabs, and Italians). It's characterized by recurrent short episodes of fever and painful inflammation in the abdomen, chest, joints, and skin. The underlying cause is a genetic mutation affecting the immune system's regulation of inflammation. While there's no cure, treatment can significantly reduce the frequency and severity of attacks and prevent long-term complications.
Symptoms
Recurrent episodes of fever, typically lasting 1-3 days.
Abdominal pain (most common symptom): can mimic appendicitis.
Chest pain: often caused by inflammation of the pleura (lining of the lungs) or pericardium (lining of the heart).
Joint pain: usually affects one joint at a time, particularly in the legs (knees, ankles, hips).
Skin rash: typically a reddish, painful rash on the legs (erysipelas-like erythema).
Muscle aches.
Scrotal pain and swelling (in males).
Less common symptoms may include headache, fatigue, and amyloidosis.
Causes
FMF is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin. Pyrin is involved in regulating inflammation. Mutations in *MEFV* disrupt the normal function of pyrin, leading to uncontrolled inflammation and the characteristic episodes of fever and pain. It is typically inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for a child to be affected.
Medicine Used
Colchicine: This is the primary medication used to treat and prevent FMF attacks. It reduces inflammation and prevents the buildup of amyloid protein in the organs. Colchicine is usually taken daily for life.
IL-1 inhibitors: For individuals who do not respond well to colchicine, medications like anakinra, canakinumab, and rilonacept (IL-1 inhibitors) may be prescribed. These medications block the activity of interleukin-1 (IL-1), a protein that promotes inflammation.
NSAIDs: Nonsteroidal anti-inflammatory drugs (NSAIDs) can be used to help alleviate pain during FMF attacks but do not prevent them.
Is Communicable
No, FMF is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Genetic counseling: Families with a history of FMF should consider genetic counseling to understand the risk of passing the gene to their children.
Adherence to medication: It is crucial for individuals with FMF to take colchicine (or alternative medications) as prescribed to prevent attacks and complications.
Regular checkups: Regular monitoring by a physician is important to assess disease control, monitor for side effects of medications, and screen for complications such as amyloidosis.
Avoid triggers: Some individuals find that certain factors, such as stress, cold weather, or certain foods, can trigger FMF attacks. Identifying and avoiding these triggers may help reduce the frequency of attacks.
Vaccinations: Ensure all routine vaccinations are up to date, as FMF patients are not at increased risk of infection in general.
How long does an outbreak last?
An FMF attack typically lasts from 12 hours to 3 days. The duration can vary from person to person and from attack to attack.
How is it diagnosed?
Clinical Evaluation: A doctor will evaluate the patient's symptoms, medical history, and family history, particularly looking for recurrent episodes of fever and characteristic symptoms.
Genetic Testing: Genetic testing for mutations in the MEFV gene is the most definitive way to diagnose FMF.
Blood Tests: Blood tests such as ESR and CRP can show elevated inflammatory markers during attacks. These tests can support the diagnosis but are not specific to FMF.
Response to Colchicine: A positive response to colchicine treatment can also support the diagnosis.
Timeline of Symptoms
The timeline of symptoms can vary, but a typical FMF attack usually follows this pattern: 1. Prodrome (optional): Some individuals may experience a brief period of fatigue, irritability, or muscle aches a few hours before the attack begins. 2. Onset: The attack typically starts abruptly with fever. 3. Peak: Symptoms like abdominal pain, chest pain, or joint pain intensify during the first 12-24 hours. 4. Resolution: Symptoms gradually subside over the next 1-3 days. 5. Intercritical Period: Between attacks, the individual is usually symptom-free. The length of the symptom-free period varies considerably.
Important Considerations
Amyloidosis: Untreated or poorly controlled FMF can lead to amyloidosis, a serious complication in which amyloid protein deposits in the organs, particularly the kidneys. This can lead to kidney failure.
Early Diagnosis and Treatment: Early diagnosis and treatment with colchicine are crucial to prevent amyloidosis and improve quality of life.
Variability of Symptoms: The severity and type of symptoms can vary widely among individuals with FMF, even within the same family.
Colchicine Resistance: Some individuals may not respond fully to colchicine and may require alternative treatments like IL-1 inhibitors.
Pregnancy: Women with FMF can have successful pregnancies with proper medical management. Colchicine is generally considered safe during pregnancy. Consultation with a doctor is crucial.