Familial Mediterranean Fever (FMF)

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Description

Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent episodes of fever and inflammation, primarily affecting the joints, abdomen, and chest. This blog delves into the intricacies of FMF, covering its symptoms, causes, diagnosis, and management strategies, empowering individuals with FMF to thrive.

Genes Involved

Genes Involved:

• MEFV gene: FMF is caused by mutations in the MEFV gene, located on chromosome 16. This gene provides instructions for making a protein called pyrin. Mutations in the MEFV gene lead to an overproduction of pyrin, which triggers the inflammatory response.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms:

• Recurrent fevers: High fevers that come and go, typically lasting 1-3 days.
• Abdominal pain: Severe pain in the abdomen, often mistaken for appendicitis.
• Joint pain and swelling: Inflammation of joints, particularly in the knees, ankles, and wrists.
• Chest pain: Pain in the chest, possibly due to inflammation of the lining around the lungs (pleurisy).
• Skin rash: A red, raised rash (erythema) may appear during episodes.
• Fatigue: Feeling tired and weak.
• Other symptoms: Headaches, nausea, vomiting, diarrhea, and loss of appetite can also occur.

Causes

Causes:

• Genetic predisposition: FMF is inherited in an autosomal recessive pattern. This means that both parents must carry a mutated copy of the MEFV gene for their child to inherit FMF.
• Unknown triggers: The exact triggers that initiate FMF episodes are not fully understood, but some factors may include:
  • Infections
  • Stress
  • Hormonal changes
  • Diet
  • Environmental factors

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

• Autosomal recessive inheritance: If both parents carry a mutated MEFV gene, there is a 25% chance their child will inherit FMF.
• Carrier status: A carrier has one mutated MEFV gene and one normal copy. Carriers do not have FMF but can pass the mutated gene to their children.
• Recurrence risk: If one parent has FMF, each of their children has a 50% chance of inheriting the disease.