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Antisynthetase syndrome is a rare autoimmune condition defined by the existence of antibodies in the body that attack specific aminoacyl-tRNA synthetases (proteins that aid in protein synthesis). It is frequently accompanied with the presence of interstitial lung disease, muscular weakness, and joint and skin inflammation.

Antisynthetase Syndrome :‎ [MEDNOTES+MINDMAP]

Definition:

  • Antisynthetase Syndrome (AS) is a rare autoimmune disorder that affects multiple organs and systems in the body
  • It is characterized by the presence of autoantibodies (antibodies that attack the body’s own tissues) against enzymes called aminoacyl-tRNA synthetases, which are involved in the synthesis of proteins
  • Symptoms of AS can vary widely and may include muscle weakness, fatigue, fever, and a rash on the face and neck

Epidemiology:

  • The exact prevalence of AS is unknown, but it is thought to be rare
  • It appears to affect both men and women equally
  • It can occur at any age, but most cases are diagnosed in people in their 30s to 50s

Natural history:

  • The course of AS can be unpredictable, with some people experiencing mild symptoms that resolve on their own, while others may experience severe and persistent symptoms
  • The disorder can lead to complications such as interstitial lung disease (inflammation of the tissues surrounding the air sacs in the lungs) and myositis (inflammation of the muscles)
  • Early diagnosis and treatment can help to improve outcomes and prevent complications

Classification/Types/Stages:

  • AS is classified as a type of autoimmune disorder known as an idiopathic inflammatory myopathy (IIM)
  • There are several different types of AS, including polymyositis, dermatomyositis, and necrotizing myopathy
  • The severity of AS can vary, with some people experiencing mild symptoms and others experiencing severe and persistent symptoms
  • The stages of AS may include:
    • Early stage: characterized by the presence of autoantibodies and mild symptoms such as muscle weakness and fatigue
    • Intermediate stage: characterized by the development of more severe symptoms such as interstitial lung disease and myositis
    • Late stage: characterized by the presence of complications such as fibrosis (scarring) of the lungs or severe muscle weakness
  • Risk Factors
    • Family history of autoimmune disorders
    • Age (usually develops in adults)
    • Gender (more common in females)
  • Etiology/Causes
    • Unknown, but thought to be related to a combination of genetic and environmental factors
    • Triggered by viral or bacterial infections, physical or emotional stress, or exposure to certain medications or chemicals
  • Signs
    • Inflammation of the joints
    • Skin rash
    • Muscle weakness
  • Symptoms
    • Fatigue
    • Fever
    • Dry mouth and eyes
    • Difficulty swallowing
    • Shortness of breath
    • Chest pain
    • Cognitive dysfunction
    • Depression and anxiety
  • Pathology/Pathogenesis
    • Antisynthetase syndrome is an autoimmune disorder, meaning the body’s immune system mistakenly attacks healthy cells and tissues.
    • Specifically, the body produces antibodies against enzymes called aminoacyl-tRNA synthetases, leading to inflammation and tissue damage in various organs and systems.
    • This can lead to the development of interstitial lung disease, myositis (inflammation of the muscles), and various other complications.
  • Diagnosis
    • Positive anti-synthetase antibodies in blood
    • Elevated levels of certain muscle enzymes (creatine kinase, aldolase)
    • Clinical presentation of myositis, interstitial lung disease, and/or arthritis
  • Tests Required
    • Blood test for anti-synthetase antibodies
    • Muscle enzyme levels
    • Imaging tests (X-ray, CT scan, MRI) to assess muscle and lung damage
  • Associated with
    • Myositis (inflammation of the muscles)
    • Interstitial lung disease (inflammation and scarring of the lung tissue)
    • Arthritis (inflammation of the joints)
    • Raynaud’s phenomenon (reduced blood flow to fingers and toes in response to cold or stress)
    • Dermatomyositis (skin rash and muscle weakness)
    • Scleroderma (thickening and hardening of the skin)
  • Similar diseases/syndromes
    • Polymyositis (inflammation of multiple muscles)
    • Dermatomyositis (skin rash and muscle weakness)
    • Scleroderma (thickening and hardening of the skin)
  • Treatment
    • Immunosuppressive medications (to reduce inflammation and prevent further damage)
    • Physical therapy to maintain muscle strength
    • Oxygen therapy for those with lung involvement
    • Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids for joint pain and inflammation
    • Supportive care such as pulmonary rehabilitation and oxygen therapy for those with lung involvement

Dr. Arin Nandi

Passionate About Medical Science & Helping Future Doctors Achieve Top Ranks In Medical Exams. He is professionally a dentist as well as a public health expert from JIPMER working in govt.health department
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