What Is Familial Mediterranean Fever?
Familial Mediterranean fever is a genetic autoinflammatory disease that causes recurrent attacks of fever typically associated with pain and discomfort in the abdomen, chest, and joints. Sometimes, a rash or headache is also manifested in these patients. Other body systems like the cardiovascular system, testicles, and membranes in certain parts of the central nervous system and spinal cord may sometimes show pain and swelling. The disease was first reported in the medical literature in 1908 by Janeway and Mosenthal.
What Is an Autoinflammatory Syndrome?
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Familial Mediterranean fever is grouped under autoinflammatory syndromes. Autoinflammatory syndromes occur due to a defect in the innate immune system. Repeated episodic inflammatory reactions characterize them.
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Autoimmune disorders differ from autoinflammatory syndromes, where there is an abnormality in the adaptive immune system. In autoimmune syndromes, the adaptive immune system mistakenly attacks the healthy tissue.
What Are the Other Synonyms of Familial Mediterranean Fever?
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Familial paroxysmal polyserositis.
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Recurrent polyserositis.
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Benign paroxysmal peritonitis.
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Periodic fever.
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Periodic disease.
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Periodic peritonitis.
How Common Is Familial Mediterranean Fever?
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Familial Mediterranean fever geographically affects the ethnic population residing around the Mediterranean region. It is most commonly manifested in the Turks, Arabs, Armenians, and Jews. However, the disease shows maximum prevalence among people of Turkish ancestry.
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The incidence rate of the disease is approximately 1 in 200 people among these populations throughout the world.
What Are the Causes of Familial Mediterranean Fever?
Familial Mediterranean fever is an autosomal recessive hereditary disease caused by a genetic mutation in the Mediterranean fever (MEFV) gene located on the short arm of the 16th chromosome. The MEFV gene codes for a protein called pyrin in neutrophils, eosinophils, and fibroblasts. This protein is mainly responsible for regulating the physiological functions of apoptosis and inflammation. Various genetic mutations in the gene cause the inflammasomes to attack the patient’s immune system. The episodic attacks can be triggered by stress, tiredness, physical exertion, and other environmental stimuli.
What Are the Symptoms of Familial Mediterranean Fever?
The symptoms of familial Mediterranean fever often start showing during early childhood. The symptoms usually occur in recurrent episodes that come and go from time to time. The attacks usually last for one to four days. The acute nature of the symptoms differs from one person to another.
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Repeated, short episodes of inflammatory attacks mark the characteristic typical symptom of familial Mediterranean fever.
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The recurrent episodes are of short duration, usually lasting for one to three days, but they occur almost spontaneously. However, the severity of the symptoms does not comply or is consistent with the duration of the disease.
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The affected people are usually free of disease symptoms between the inflammatory attacks or episodes.
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The time between the attacks ranges from weeks to months to even years.
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The initial symptoms of the disease usually occur during early childhood or infancy, with most individuals being affected by the disease before 20 years.
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Recurrent high fever ranging between 100 to 104 degrees Fahrenheit.
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In some individuals, repeated episodic fevers can be the only symptom in certain individuals during infancy or early childhood.
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Pain in the abdomen. The abdominal muscles become distended and board-like.
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Pain in the chest that leads to dyspnoea (difficulty in breathing).
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Swollen, inflamed, tender joints of the knees and ankles (arthralgia).
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An erythematous rash occurs on the legs.
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Muscle pain.
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Painful and swollen scrotum.
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Constipation is sometimes followed by diarrhea.
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Headache.
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Splenomegaly (enlargement of the spleen).
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Risk of infertility.
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Serositis (inflammation of multiple serous tissues of the body, including the membranes lining the abdomen, brain, lungs, and heart).
Prodromal Phase:
This phase is marked by certain symptoms that occur in almost fifty percent of the population suffering from the disease before the onset of recurrent inflammatory attacks. The prodromal signs and symptoms mainly include discomfort and restlessness before the onset of the attack, followed by tension, irritation, feeling of uneasiness, an increase in appetite, and loss of taste sensation.
What Are the Types of Familial Mediterranean Fever?
Familial Mediterranean fever is classified into Type 1 and Type 2.
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Type 1 Familial Mediterranean Fever - Repeated short-duration inflammatory attacks, including high temperatures and serositis, which involve swelling and pain of the membranes surrounding the heart, brain, spinal cord, abdomen, and lungs. The extent and severity of the symptoms vary from one person to another. If the condition is left untreated, it can lead to a fatal complication called amyloidosis, leading to renal failure.
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Type 2 Familial Mediterranean Fever - Amyloidosis is the first symptom in an asymptomatic person with type 2 disease. Amyloidosis is when a fatty-like substance called amyloid accumulates in other body parts, including the kidneys, resulting in renal failure.
What Are the Diagnostic Tests for Familial Mediterranean Fever?
The diagnosis is especially established based on the clinical history of episodic fevers in patients who particularly belong to the region around the Mediterranean sea. The diagnostic tests to be conducted include:
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Blood Tests - To demonstrate increased white blood cell count with increased erythrocyte sedimentation rate.
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Plasma Fibrinogen - Levels of plasma fibrinogen are elevated.
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Serum Haptoglobin - It is elevated because of the destruction of red blood cells.
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C-Reactive Protein - The high levels indicate acute inflammatory episodes.
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Urine Analysis - To show high levels of albumin in the urine.
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Genetic Testing - It is done to identify genetic mutations in the MEFV gene.
What Is the Treatment of Familial Mediterranean Fever?
There is no established treatment for the disease. The recurrent episodes are usually self-limiting, and healthcare clinicians can only provide symptomatic relief.
1. Drug Therapy:
The inflammatory attacks are managed by the administration of nonsteroidal anti-inflammatory drugs. Another drug of choice is Colchicine which is also frequently used to treat inflammatory symptoms. It successfully reduces inflammation and prevents fever and amyloidosis in almost 75 percent of the affected individuals.
2. Genetic Counseling:
Genetic counseling of the patients, their families, and couples planning pregnancy should also be done to raise awareness about this rare genetic disorder.
Conclusion
Familial Mediterranean fever is a rare genetic disease that is autoinflammatory. Recurrent fever episodes and acute inflammation of the membranes of various body organs, including the brain, spinal cord, lungs, and heart, constitute the major clinical manifestations of the disease. Affected individuals can lead a comfortable life with early detection and management of the disease. Intake of nutritious food along with physical workouts and meditation may help the person in particular to improve his condition.
