Familial Mediterranean fever (FMF) is a genetically determined disease belonging to the group of hereditary hemorrhagic fevers. It is typical for the mixed population of the Mediterranean countries and is of importance for both medicine and public health. FMF manifests itself in periodic attacks of fever, accompanied by pain syndromes in the abdomen, chest or joint area. These episodes can last from several hours to several days and, as a rule, pass spontaneously. The main mechanism of the disease is associated with abnormalities in the genes encoding molecules that control inflammatory processes, which leads to the activation of autoimmune reactions of the body.
History of the disease and interesting historical facts
The history of familial Mediterranean fever can be traced back to the early 20th century, when the first cases were recorded in populations of Jewish and Arab origin. In the 1950s, the disease became the subject of intensive study when it was established that it was inherited and what its genetic basis was. Interestingly, in recent decades, successful studies have allowed us to understand the molecular mechanics of FMF development. In this context, the work of gene therapy can be highlighted, which promises to improve the quality of life of patients and reduce the frequency of attacks of the disease.
Epidemiology
The prevalence of familial Mediterranean fever varies by region, but in Mediterranean countries and the Middle East the incidence is approximately 1 in 200–1000 people. According to the World Health Organization, FMF affects more than 70% people of Jewish or Arab descent, making it a significant public health problem in these regions. In recent years, there has been an increase in FMF cases outside traditional areas, particularly in migrant populations, indicating the need for special attention to the diagnosis and treatment of this pathology.
Genetic predisposition to this disease
Familial Mediterranean fever is an autosomal recessive disorder, meaning two copies of the mutated gene are required for the disease to develop. The major associated gene is MEFV, located on chromosome 16. Defects in the protein it encodes, known as pyrin, lead to dysregulation of inflammation, which causes the symptoms of the disease. About 90% cases of the disorder are associated with mutations in this gene, including the most common ones, M694V, M680I, and V726A.
Risk factors for the development of this disease
Risk factors for developing familial Mediterranean fever are mainly related to ethnicity and heredity. Specific risk factors may include:
- Ethnic predisposition (Arabs, Jews, Kurds).
- Presence of a family history of people with MLS.
- Age of onset of symptoms (usually the first episode occurs in childhood or adolescence).
- Environmental factors (stress, infections, certain physical activities) can trigger acute episodes in predisposed individuals.
Diagnosis of this disease
Diagnosis of familial Mediterranean fever involves several key steps. The main symptoms are usually attacks of fever associated with abdominal, chest or joint pain that can last from 1 to 3 days. Laboratory tests can detect the level of seromucoids and C-reactive protein, which are elevated during exacerbations.
Radiological examinations are not usually a priority but may be used to exclude other diseases. Other diagnostics, such as molecular genetic tests for mutations in the MEFV gene, are more specific, especially when there is a family history. The differential diagnosis includes exclusion of major similar diseases such as infectious fevers, other nodular vasculitides, and unexplained abdominal pain.
Treatment
Treatment of familial Mediterranean fever is aimed at stopping acute episodes and preventing their occurrence. General treatment may include the use of nonsteroidal anti-inflammatory drugs (NSAIDs) to relieve symptoms. Pharmacological treatment is aimed at long-term therapy with colchicine, which is used to reduce the frequency and severity of attacks.
In some cases, when standard treatment is ineffective, surgery may be required to treat complications such as peritonitis. Other therapies, such as glucocorticosteroids, are less common and are used in severe cases where conservative treatments fail to produce the expected effect.
List of medications used to treat this disease
Medications typically include:
- Colchicine is the main drug for prevention.
- Indomethacin – to relieve attacks.
- NSAIDs (eg, ibuprofen and naproxen) – to reduce pain.
- Glucocorticosteroids – in rare and severe cases.
Disease monitoring
Monitoring of the patient with familial Mediterranean fever includes regular follow-up examinations to assess the frequency of attacks and response to treatment. The prognosis of the disease is generally favorable, but complications such as peritonitis or arthritis are possible, requiring special attention from the physician to the patient's condition and medical history.
Age-related features of the disease
Familial Mediterranean fever can manifest at any age, but most often begins to develop in childhood and adolescence. In children, the disease may be more intense with longer intervals between attacks, while adults may have less severe symptoms and more often random episodes. It is important to consider that manifestations may change with age, which requires adjustments to treatment approaches and health monitoring.
Questions and Answers
- What is familial Mediterranean fever? It is a hereditary disease characterized by episodic attacks of fever and pain syndromes caused by genetic abnormalities.
- How often do attacks occur in SML? The frequency of attacks varies considerably, but on average, in some patients they may occur once every few weeks and last from 1 to 3 days.
- Can Familial Mediterranean Fever Be Cured? There is no cure for the disease, but modern treatments such as colchicine can significantly reduce the frequency and severity of attacks.
- What tests need to be taken to diagnose SML? The focus is on laboratory tests for inflammatory markers, as well as molecular genetic studies to identify mutations in the MEFV gene.
- Is it possible to play sports with SML? Moderate physical activity is not contraindicated, but it is necessary to avoid excessive activity that may provoke an attack.
Dr. Oleg Korzhikov advises patients with familial Mediterranean fever to closely monitor their condition, keep a symptom diary, and seek medical help immediately at the first signs of an acute attack. Regular consultation with a rheumatologist or geneticist will significantly improve the quality of life and reduce the frequency of exacerbations of the disease. In addition, it is important to remember the importance of adhering to the prescribed therapy and preventing possible triggers, such as infectious diseases and stress. An open dialogue with the doctor will help find the most appropriate prevention methods for each specific case.
