1 / 5

Periodic Fever Syndromes

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

july
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. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Periodic Fever Syndromes

  2. 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

  3. 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

  4. 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

  5. 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

More Related