Webster's New World Medical Dictionary


familial Mediterranean fever



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Webster s New World Medical Dictionary (1)

familial Mediterranean fever
A rare genetic
disorder that is characterized by recurrent attacks
of inflammation, with fever and pain in the
abdomen, chest, and/or joints. Abbreviated FMF.
FMF attacks typically last for 12 to 72 hours. The
symptoms may differ from patient to patient, even in
the same family. In some cases, protein deposits,
called amyloid, can accumulate in tissues (amyloi-
dosis). When this injures the kidneys it can lead to
kidney failure. Colchicine prevents the attacks of
pain and the deposition of amyloid. FMF is inherited
as an autosomal recessive trait. Molecular testing
for mutations in the MEFV gene (on chromosome
16) confirms the diagnosis. Molecular genetic test-
ing can also detect carriers and the prenatal pres-
ence of FMF. Also known as recurrent polyserositis.
familial mental retardation 1
See 
FMR1.
familial neurovisceral lipidosis
See 
GM1-
gangliosidosis.
familial polyposis
See 
familial adenomatous
polyposis.
family planning
See 
birth control.
family tree
See 
pedigree.
Fanconi anemia
A rare, inherited disease that
adversely affects all the elements of bone marrow
and is associated with malformations of the heart,
kidney, and limbs, as well as pigmentary changes of
the skin. Fanconi anemia predisposes a person to
cancer, particularly to a disturbance of bone mar-
row growth called myelodysplasia and to acute
myeloid leukemia. Patients also tend to develop
cancers in areas of the body where cells normally
reproduce rapidly, such as the mouth, the esopha-
gus, the intestinal and urinary tracts, and the repro-
ductive organs. Fanconi anemia is most common in
Ashkenazi Jews. Mutations in multiple different
genes can cause the disease, which is inherited as
an autosomal recessive trait.

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