Summary about Disease
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes of fever and painful inflammation, most commonly affecting the abdomen, chest, and joints. It primarily affects people of Mediterranean origin, particularly those of Sephardic Jewish, Armenian, Turkish, and Arab descent. If left untreated, FMF can lead to amyloidosis, a serious complication affecting the kidneys.
Symptoms
The primary symptoms of FMF are recurrent episodes lasting 1-3 days, including:
Fever
Abdominal pain (often mimicking appendicitis)
Chest pain (pleurisy)
Joint pain and swelling (arthritis)
Skin rash (erysipelas-like erythema)
Muscle pain Symptoms vary in severity and frequency from person to person and even from attack to attack. Some individuals may experience milder or atypical symptoms.
Causes
FMF is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin. Pyrin plays a role in regulating inflammation. Mutations in the *MEFV* gene lead to an overactive inflammatory response, resulting in the characteristic episodes of fever and inflammation. The disease is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
Colchicine: This is the primary medication used to treat FMF. It helps to prevent or reduce the frequency and severity of attacks. It also prevents the development of amyloidosis.
Other Medications: In cases where colchicine is not effective or tolerated, other medications may be used to manage symptoms. These may include nonsteroidal anti-inflammatory drugs (NSAIDs) for pain relief or, in rare cases, biologic agents that target specific inflammatory pathways.
Is Communicable
No, Familial Mediterranean Fever is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent contracting FMF, as it is a genetic disease. However, individuals diagnosed with FMF can take the following precautions:
Adherence to Medication: Strictly adhere to the prescribed colchicine regimen to prevent attacks and complications.
Regular Monitoring: Undergo regular check-ups and blood/urine tests to monitor for amyloidosis and other complications.
Lifestyle Management: Maintain a healthy lifestyle, including a balanced diet, regular exercise, and stress management, to support overall health.
Genetic Counseling: If planning a family, consider genetic counseling to assess the risk of passing the mutated gene to offspring, especially if you or your partner have FMF or are of Mediterranean descent.
How long does an outbreak last?
An FMF attack typically lasts for 1 to 3 days.
How is it diagnosed?
Diagnosis of FMF is based on:
Clinical Evaluation: Assessing the patient's symptoms, medical history, and family history, especially if they are of Mediterranean descent.
Genetic Testing: Identifying mutations in the MEFV gene through blood tests.
Response to Colchicine: A positive response to colchicine treatment (reduction in attack frequency and severity) can support the diagnosis.
Inflammatory Markers: Elevated inflammatory markers like ESR (erythrocyte sedimentation rate) and CRP (C-reactive protein) during attacks.
Timeline of Symptoms
The timeline of symptoms is characterized by recurrent, unpredictable episodes:
Prodrome (Optional): Some individuals may experience a warning period (prodrome) with vague symptoms like fatigue or mood changes hours before an attack.
Acute Attack: Sudden onset of fever, abdominal pain, chest pain, joint pain, and/or skin rash, lasting for 1-3 days.
Resolution: Symptoms gradually subside over a few days.
Inter-Attack Period: Variable symptom-free periods between attacks. Frequency and severity can change over time.
Important Considerations
Amyloidosis: Untreated FMF can lead to amyloidosis, a serious condition where amyloid protein deposits in organs like the kidneys, leading to organ damage. Early diagnosis and treatment with colchicine are crucial to prevent this complication.
Genetic Counseling: Important for families affected by FMF to understand the inheritance pattern and recurrence risk.
Adherence to Colchicine: Consistent use of colchicine is essential for managing the disease and preventing complications. Patients should be educated about the importance of adherence and potential side effects.
Variability: FMF symptoms can vary greatly between individuals, making diagnosis challenging.
Differential Diagnosis: Because the symptoms can mimic other conditions, it's important to rule out other causes of recurrent fever and inflammation.