Familial Mediterranean Fever

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Familial Mediterranean Fever

  1. 1. Familial Mediterranean Fever Marlee Breakstone
  2. 2. Caused by mutations in the mefv Gene • Provides instructions for making pyrin (marenostrin), which is found in white blood cells • Regulates process of inflammation
  3. 3. Inherited Condition • Primarily affects populations originating in the Mediterranean region • Armenian, Arab, Turkish, Jewish peoples • Affects from 1/250 to 1/1000 people in these populations • Inherited in autosomal recessive pattern • Recessive gene
  4. 4. Inheriting a recessive trait
  5. 5. Symptoms • Recurrent episodes of painful inflammation of the abdomen, chest or joints • Fever • Rash
  6. 6. • First episode usually occurs in childhood or teenage years • Episodes last 12-72 hours on average • Episodes can vary in severity • Length of time between attacks varies • A buildup of protein deposits may occur on organs and body tissues • Without preventative treatments, kidney failure can occur
  7. 7. Type 1 • Recurrent short episodes • Inflammation and serostis • Fever • Peritonitis • Pleuritis • Pericarditis and Meningitis (less common)
  8. 8. Type 2 • Amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual
  9. 9. Clinical Diagnosis • Recurrent febrile episodes accompanied by peritonitis, synovitis, or pleuritis • Recurrent erysipelas-like erythema • Repeated laparotomies for "acute abdomen" with no pathology found • Amyloidosis of the AA type that characteristically develops after age 15 years in untreated individuals, even in those who do not have a history of recurrent inflammatory attacks • Favorable response to continuous colchicine treatment • FMF in a first-degree relative • At-risk ethnic group
  10. 10. Diagnosis • Test looks for gene mutations • Minimal Criteria – FEVER plus one or more major signs and one minor sign – FEVER plus two minor signs
  11. 11. treatments • No known cure • Colchicine precents attacks – Administer colchicine therapy daily in patients at risk of developing amyloidosis – The regimen for acute attacks in patients not taking daily colchicine is 0.6 mg every hour for 4 doses, then 0.6 mg every 2 hours for 2 doses and then 0.6 mg every 12 hours for 4 doses. • Nonsteroidal anti-inflammatory drugs • Possible renal transplantation • Treatment can prevent long-term damage to organs
  12. 12. Prognosis • Some children initially need psychological support to cope. • Seek support from community members (family, friends, teachers, employers) because episodes may result in an inability to carry out daily responsibilities • Use treatment (colchicine) to avoid attacks and help you live a normal life
  13. 13. bibliography • "Colcrys (Colchicine Tablets) Drug Information: Description, User Reviews, Drug Side Effects, Interactions - Prescribing Information at RxList." RxList. RxList, 5 Aug. 2011. Web. 14 Mar. 2014. • “Disease Characteristics." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 14 Mar. 2014. • "Familial Mediterranean Fever." - Genetics Home Reference. Genetics Home Reference, 10 Mar. 2014. Web. 12 Mar. 2014. • Hashkes, Philip. "Familial Mediterranean Fever (Juvenile) | American College of Rheumatology | ACR." Familial Mediterranean Fever (Juvenile) | American College of Rheumatology | ACR. American College of Rheumatology, Mar. 2013. Web. 14 Mar. 2014. • Meyerhoff, John O. "Familial Mediterranean Fever Treatment & Management." Familial Mediterranean Fever Treatment & Management. Medscape, 13 Feb. 2014. Web. 14 Mar. 2014 • Shohat, Mordechai. "Familial Mediterranean Fever." Familial Mediterranean Fever. U.S. National Library of Medicine, 26 Apr. 2012. Web. 14 Mar. 2014.

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