Periodic fever syndromes
This presentation is the property of its rightful owner.
Sponsored Links
1 / 5

Periodic Fever Syndromes PowerPoint PPT Presentation


  • 67 Views
  • Uploaded on
  • Presentation posted in: General

Periodic Fever Syndromes. Periodic Fevers. Rare group of disorders, four known categories Familial Mediterranean Fever TNF Receptor-Associated Periodic Syndrome (TRAPS), previously known as Hibernian Fever Muckle-Wells Syndrome Hyper-IgD Syndrome

Download Presentation

Periodic Fever Syndromes

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -

Presentation Transcript


Periodic fever syndromes

Periodic Fever Syndromes


Periodic fevers

Periodic Fevers

  • Rare group of disorders, four known categories

    • Familial Mediterranean Fever

    • TNF Receptor-Associated Periodic Syndrome (TRAPS), previously known as Hibernian Fever

    • Muckle-Wells Syndrome

    • Hyper-IgD Syndrome

  • Age of onset anytime during lifespan, 90% appear before the age of 20

  • These are disorders of autoinflammation, distinct from autoimmunity and/or immunodeficiencies as there are no specific immunoglobulins associated with these diseases


Clinical manifestations

Clinical Manifestations

  • Familial Mediterranean Fever

    • Peritonitis, Pleuritis, Pericarditis

    • Attack is sudden in onset, may present as acute abdomen

    • Autosomal recessive inheritence, mutation in pyrin gene (MEFV = leukocyte scaffolding protein)

    • Monoarthritis of the knees, ankles, wrists, and elbows

    • Attacks last 2-3 days

    • Most common complication in 60% of affected individuals = systemic amyloidosis

  • TRAPS

    • Most common manifestations are periodic low grade fevers lasting ~1-3 weeks, usually unprovoked

    • “Painful Erythema” of erysipelas like lesions

    • Monoarthritis of the knees, ankles, wrists and elbows

    • Due to chronic activation of innate immune system from mutations in TNF receptor gene (TNFRSF1A missense mutations)

    • Systemic amyloidosis is a common long-term complication


Diagnosis

Diagnosis

  • Mostly from history and physical exam findings such as

  • After exhaustive workup for occult malignany, infection, and connective tissue disorders returns negative, blood samples can be sent to specific labs at the NIH for:

    • MEFV gene mutation

    • TNFRSF1A missense mutations


Treatment

Treatment

  • Familial Mediterranean Fever

    • Daily colchicine reduces attacks by 60% and significantly reduces the risk of developing systemic amyloid

  • TRAPS

    • Colchicine is not as effective

    • Responsive to corticosteroids and intermittent use of NSAIDS. These do not address risk and complications from amyloid

    • TNF blockers are now being evaluated with promising results in reduction of amyloid deposits


  • Login