Familial Mediterranean Fever

Marlee Breakstone

Caused by mutations in the mefv Gene

• Provides instructions for making pyrin (marenostrin), which is found in white blood cells

• Regulates process of inflammation

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

Inheriting a recessive trait

Symptoms

• Recurrent episodes of painful inflammation of the abdomen, chest or joints

• Fever• Rash

• 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

Type 1

• Recurrent short episodes• Inflammation and serostis• Fever• Peritonitis• Pleuritis• Pericarditis and Meningitis (less common)

Type 2

• Amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual

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

Diagnosis

• Test looks for gene mutations• Minimal Criteria– FEVER plus one or more major signs and one

minor sign – FEVER plus two minor signs

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

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

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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

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