Autoinflammatory Syndrome: Classification, Clinical Features

Autoinflammatory diseases are caused by the body’s hyperreaction to certain trigger factors. A Classic example of Autoinflammatory Syndrome is Familial Mediterranean fever. Other examples are systemic lupus erythematosus (SLE) and Rheumatoid arthritis. The above are polygenic disorders. Systemic sclerosis is also an example of the autoinflammatory syndrome.

Such patients experience unprovoked inflammatory episodes without high titers of pathogenic Antibodies. The diseases do not have elevated levels of antigenic-specific T cells.

Autoinflammatory diseases show Mendelian inheritance.

Classification of Autoinflammatory Syndromes

The classification is based on Classified based on elevated proinflammatory cytokines.

Familial Mediterranean Fever

Familial Mediterranean Fever is also known as periodic fever Syndrome. It is an Autosomal Recessive type of Inheritance. The mutation of the MEFV gene, which codes for the protein pyrin, causes the disease. The Prevalence of the disease is highest around the Mediterranean Sea in countries like Turkey, Israel, Armenia, Arab, and Italy.

Clinical Features for Familial Mediterranean Fever

The features of Familial Mediterranean Fever occur in Triads

• Fever: It lasts for < 2 days
• Arthritis
  • Monoarthritis 
  • Transient
  • Last for < 2 days 
• Serositis
  • The most common presentation is peritonitis (Sterile)
  • It is seen in >90% of patients who have presented with a fever.

Other symptoms associated with Familial Mediterranean Fever

• Abdominal involvement in the form of Peritonitis 
• Musculoskeletal: Monoarthritis-like symptoms
• Neurological: It might cause Aseptic meningitis 
• Skin
  • Characteristic feature for diagnosis
  • Erysipeloid rash occurs along with fever
• No involvement of eyes
• Increased risk of amyloidosis
• Erysipeloid rash 

Diagnosis of Familial Mediterranean Fever

• Diagnosis is made by Ruling out the possible cause.
• High suspicion of the disease is there if the patient is from the Mediterranean Sea.
• Confirmation of the disease is always done by genetic studies 

Treatment Of Familial Mediterranean Fever

The Familial Mediterranean Fever is treated with Colchicine. It is known as the drug of choice for Familial Mediterranean Fever. The dose given to the patient is 1.2 to 1.8 mg/day. 

If colchicine is not effective then Anti IL1 drugs are used. Anti IL 1 drugs includes drugs like Anakinra and Canakinumab. This information is written concisely in the table below:

Important points 

• Hereditary Periodic Fever Syndrome with highest risk of amyloidosis Familial Mediterranean fever
• Autoinflammatory syndrome or periodic fever syndrome with sensory neural deafness
  • Neonatal onset multisystem nflammatory disorder (NOMID)
  • Muckle wells Syndrome (MWS)
  • Both are CAPS (Exposure to cold)
• Etanercept may be useful in Tumor necrosis factor-associated periodic fever syndrome (TRAPS)
• Periodic fever syndrome with cervical adenopathy HIDS, PFAPA
• Periodic fever syndrome with urticaria CAPS
  • It includes
    • NOMID
    • MWS
    • FCAS

Frequently Asked Questions

Q: what is the Hereditary Periodic Fever Syndrome with the highest risk of amyloidosis known as?

Answer: Familial Mediterranean fever

Q: What is the drug of choice for Familial Mediterranean fever?

Answer: Colchicine 

Q: What gene mutation is seen with familial Mediterranean Fever?

Answer: Mutation of the MEFV gene.

Q: What is the interferon-related Familial Mediterranean Fever known as?

Answer: Aicardi Goutiere's

Also Read:

Fibromyalgia- Causes And Treatment

Aortic Aneurysm- Thoracic And Abdominal Aortic Aneurysm

Hope you found this blog helpful for your NEET SS Medicine Rheumatology Preparation. For more informative and interesting posts like these, keep reading PrepLadder’s blogs.