Download 13. Virginia Scholtes -Familial Mediterranean Fever

Familial Mediterranean Fever (FMF)
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Presented by
Ginny Scholtes
10/3/10
What is FMF?
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Inherited condiKon
Common in people of Armenian, Arabic, Turkish and Jewish descent (Mediterranean region); 1 in 250 to 1 in 1,000 people
Manifests in painful episodes with fever (usually in childhood)
10/3/10
Symptoms
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Painful inflammaKon in the chest (lungs), abdomen or joints
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Fever, someKmes rash
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12-­‐72 hour episodes
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1st episode in childhood, teenage years
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Untreated, can lead to amyloidosis and renal failure
Type 2: amyloidosis as first clinical symptom 10/3/10
Classical Diagnosis
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Exclusionary
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History of repeated fever and inflammaKon
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Risk assessment
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Favorable response to conKnuous colchicine treatment
Amyloidosis (for Type 2)
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Classical Treatment
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No known cure
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Non steroidal anK-­‐inflammatory drugs
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Colchicine (prevents inflammaKon and deposiKon of amyloid)
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Molecular Gene<cs
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Autosomal recessive (Mendelian), although some compound heterozygous; rarely heterozygous will manifest symptoms
MutaKon (specific) of the MEFV gene on chromosome 16, locus 16p13
Highly penetrant
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What Causes the Symptoms?
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MEFV gene codes for pyrin
Pryin is a protein responsible for regulaKng inflammaKon
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Gene<cs Be=er Diagnosis?
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Yes
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Classical diagnosis confirmaKon
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Targeted mutaKon analysis (Exon 2: p.Glu148Gln, Exon 10: p.Met694Val)
For non-­‐classic or mild cases, addiKonal sequence analysis (inside or outside exon 10)
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Carrier tesKng (for heterozygous parents)
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Prenatal diagnosis 10/3/10
10/3/10
Gene<cs Be=er Therapies?
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Yes, but sKll in managing the symptoms rather than treaKng the disease •
Anakinra (IL-­‐1 receptor inhibitor)
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Research into other treatments
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TesKng allows for beLer diagnosis
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Family planning 10/3/10
References
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hLp://www.ncbi.nlm.nih.gov/omim/249100
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hLp://ghr.nlm.nih.gov/condiKon/familial-­‐mediterranean-­‐fever
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hLp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=f
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hLp://healthyparent.com/FMF/genes.html
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hLp://www.mayoclinic.com/health/familial-­‐mediterranean-­‐fever/D
10/3/10