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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

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Periodic Fever Syndromes

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  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

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