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Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female.
[familial hypocalciuric hypercalcemia]
Familial
hypocalciuric
hypercalcemia
(
FHH
)
is
a
cause
of
lifelong
hypercalcemia
resulting
from
inactivated
mutations
in
the
calcium
sensing
receptor
gene
.
Diffuse
idiopathic
skeletal
hyperostosis
(
DISH
)
is
an
under
diagnosed
condition
that
leads
to
ossification
of
ligaments
and
entheses
of
the
spine
and
peripheral
skeleton
.
We
describe
a
45
-
year
-old
diabetic
woman
with
hypercalcemia
secondary
to
FHH
who
developed
dysphagia
because
of
external
esophageal
compression
from
DISH
.
The
patient
had
no
additional
identifiable
risk
factors
for
DISH
except
for
diabetes
mellitus
.
An
association
between
FHH
and
DISH
has
not
been
previously
reported
.
Although
most
cases
of
hypercalcemia
are
found
to
have
decreased
bone
mineralization
,
inactivation
of
calcium
sensing
receptor
may
induce
a
promitogenic
response
to
hypercalcemia
resulting
in
increased
bone
density
.
However
,
a
causal
association
between
FHH
and
DISH
remains
unproven
.
