Transcript Genetic_Disease_power_point

Familial Mediterranean Fever
Lynn Fortney
Alex McLean
Tanner Elliott
Location of the Gene
• The underlying cause of
Familial Mediterranean
Fever is mutation in the
MEFV gene
• Cytogenetic Location:
16p13.3
• Molecular Location on
chromosome 16: base
pairs 3,232,028 to
3,246,627
Causes of FMF
• The MEFV gene carries the
instructions for the
production of the protein
pyrin
• Pyrin controls neutrophils
• Neutrophils moves into the
area of the body where
infection or trauma has
occurred resulting in
inflammation
• The abnormal pyrin that is
produced from the
mutation in the MEFV gene
is unstable
Causes of FMF
• The pyrin has lost its
ability to regulate
neutrophils and
inflammation
• This causes what would
normally be an
unnoticeable or mild
inflammation to
become severe
•
Symptoms
• The episodes of fever and
inflammation usually last
12-72 hours
• The fevers are typically
between 100-104F
• Abdominal pain that ranges
from mild to severe and can
be either diffuse or localized
• Chest pain caused by
inflammation of the lining
of the lungs
Symptoms (cont.)
• Joint pain usually confined to
one joint at a time, and often
involves the hip, knee, or ankle
• Myalgia which is muscle pain
• Skin rash on the front of the
lower leg or top of the foot
• Amyloidosis is the presence and
depostion of excess amounts of
the protein serum amyloid A,
the effects on the kidneys is the
greatest concern
Diagnosis
• Genetic tests for the gene is only
absolute way to diagnose FMF,
but normal tests like x-rays, MRIs,
etc, can rule out other diseases,
while not during an attack.
• Some tests that can be
performed during an attack that
are higher than normal, but
subside afterwards are
Ceruloplasmin , C-reactive
protein, Erythrocyte
sedimentation rate (ESR),
Fibrinogen level, Serum
haptoglobin, and White blood cell
count, all point to FMF.
Treatment
• The only treatment for
the symptoms, is
Colchicine
• It’s the only medicine
that can lessen the
effects of the attacks
along with the
frequency of the
attacks.
Pedigree chart
Impacts of the Disease
• Personal Impacts: the
episodes can have a
crippling effect on the
quality of life
• Family Impacts: the family
are high risk carriers of the
mutated gene
• World Impacts: weakens the
population genetically and
socially.
Sources
• http://ghr.nlm.nih.gov/gene=mefv
• The Gale Encyclopedia of Genetic Disorders.
Ed. Brigham Narins. Vol. 1. 2nd ed. Detroit:
Gale, 2005. p448-452.
• http://www.mayoclinic.com/health/familialmediterranean-fever/DS00766
• http://healthtools.aarp.org/adamcontent/fam
ilial-mediterranean-fever/1