FAMILIAL MEDITERRANEAN FEVER

Overview and Facts

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder characterized by recurrent episodes of fever and inflammation. It primarily affects populations originating from the Mediterranean basin, including individuals of Jewish, Arabic, Turkish, and Armenian descent. FMF is named for its familial occurrence and its prevalence in Mediterranean populations. Although it typically manifests in childhood, symptoms may begin at any age. Understanding the genetic and inflammatory mechanisms underlying FMF is crucial for diagnosis and management.

Types and Symptoms

SYMPTOMS

The hallmark symptom of Familial Mediterranean Fever is recurrent attacks of fever and inflammation, typically lasting 1-3 days and recurring at irregular intervals. Other common features include:

  • Abdominal pain: Often resembling an acute abdomen, with inflammation of the abdominal lining (peritonitis).
  • Joint pain: Inflammation of the joints, particularly affecting the knees, ankles, and hips.
  • Chest pain: Due to inflammation of the membrane surrounding the lungs (pleuritis).
  • Skin rash: Red or purple skin lesions, sometimes mistaken for other conditions like erysipelas.

Symptoms can vary in severity and frequency between individuals and may be accompanied by elevated inflammatory markers in the blood.

Diagnosis & Medications

DIAGNOSIS

Diagnosing FMF involves a combination of clinical evaluation, genetic testing, and exclusion of other conditions:

  • Clinical evaluation: Based on characteristic symptoms and family history.
  • Genetic testing: Identifying mutations in the MEFV gene confirms the diagnosis, although not all affected individuals have identifiable mutations.
  • Exclusion of other causes: Symptoms may overlap with other conditions, so ruling out infections, autoimmune diseases, and other inflammatory disorders is important.

TREATMENT

The primary treatment for FMF is colchicine, which helps prevent and reduce the frequency of attacks. Colchicine works by suppressing inflammation and inhibiting the production of inflammatory cytokines. Most patients respond well to colchicine, with few experiencing side effects. In cases of colchicine resistance or intolerance, other medications such as biologics may be considered to control inflammation.

Prognosis

With appropriate treatment, most individuals with FMF can lead normal lives with minimal disease activity. However, untreated or poorly managed FMF can lead to complications such as amyloidosis, a condition where abnormal proteins (amyloids) accumulate in organs like the kidneys, potentially leading to organ damage.

Familial Mediterranean Fever is a genetic autoinflammatory disorder characterized by recurrent fever and inflammation, primarily affecting populations of Mediterranean descent. Early diagnosis, genetic testing, and appropriate treatment with colchicine are essential for managing symptoms and preventing complications. Continued research into the genetic and inflammatory mechanisms of FMF will further improve understanding and treatment options for affected individuals.

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