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Familial
Mediterranean Fever (FMF)
FMF is a hereditary condition usually occurring in people of
Mediterranean origin, including Sephardic Jews, Iraqi Jews,
Armenians, Turks, Arabs, and less frequently, Greeks, Italians,
and Ashkenazi Jews |
What
are the symptoms?
FMF is characterized by repeated attacks of fever and inflammation
of the abdominal area, chest, or joints, which are self-limiting.
These attacks typically first occur during childhood or adolescence.
In general, the attacks last 12 to 72 hours. The interval between
attacks ranges from days to months; and the type of attack can
vary from one episode to the next. Symptoms and severity of
attacks vary among FMF affected individuals. Attacks can be
triggered by physical over-exertion, injury, emotional stress,
and cold temperatures. |
The
following symptoms can occur in FMF attacks:
- A
sudden fever (100°F to 104°F)
- Chest
pain (painful breathing)
- Abdominal
pain (can mimic appendicitis)·
- Joint
pain (knee, ankle, hip)
- Skin
swelling and redness (knee, foot)
- Nausea,
vomiting
- Rarely,
prolonged fever and muscle pain; and inflammation of other
body organs
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| How
common is it? The FMF carrier rate can vary
from between 1 in 3 to 1 in 7 in North African Jews, Iraqi Jews,
Armenians, and Turks, and Ashkenazi Jews. The more severe form
of the gene mutation is found in affected individuals of North
African Jewish origin and Turkish origin. By contrast, FMF in
Ashkenazi Jews is much less frequent as this population inherits
a mild form of the mutation leading to few, if any, symptoms
of FMF or complications. |
How
is it inherited?
An individual inherits two copies of every gene from their parents
(one from their mother and one from their father). Genes provide
the instructions for the development and function of the body.FMF
is believed to be caused by a mutation in the gene that is responsible
for the production of a protein that regulates the body’s
temperature and inflammation.Inheriting one mutated copy of
the gene from one parent, and one normal copy of the gene from
the other parent, makes a person a “carrier”. Being
a carrier of FMF is not known to cause health problems. In order
to have FMF, a child must inherit two copies of the mutated
gene (one from each parent). |
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When
two parents are carriers, they each have a 50% chance of passing
on their mutated gene to their child. With each pregnancy,
this couple has a 25% chance of having a child who is unaffected
by FMF (is not a carrier of the mutated copy of the gene);
a 50% chance of having a child who is a carrier of FMF; and
a 25% chance of having a child who is affected with FMF.
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Are
there any long term complications?
Amyloidosis is the most severe complication of FMF. This is
a condition that can cause tissue and organ damage (most often
affecting the kidney). Amyloidosis most often occurs in untreated
individuals with FMF of North African Jewish descent (75%) and
Turkish heritage (60%). Sometimes amyloidosis can be the first
manifestation of the disease even in individuals with FMF who
do not have any other symptoms. |
Can
it be treated?
The most effective treatment for individuals with FMF is a drug
called colchicine; this is a tablet which is taken daily for
life. Colchicine can decrease the frequency and severity of
FMF episodes for most individuals. More importantly, can also
help to prevent the onset of amyloidosis.
Colchicine is a well-established treatment that is safe and
effective, particularly in those groups that tend to have a
more severe form of the disease. |
How
is it diagnosed?
- Symptoms
of FMF
- Family
History
- Ethnicity
- Blood
tests during an episode to detect levels of inflammation
- Response
to a trial of colchicine treatment where recommended
- When
warranted, genetic testing is available through the Medical
Genetics Departments of the Jewish General Hospital and the
Montreal Children’s Hospital, with a referral from
a pediatrician or general practitioner
Speak
to your G.P. if you have concerns that you or your child may
be affected by FMF |
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Copyright© 2007 |
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