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Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study.
[familial hypocalciuric hypercalcemia]
Studies
have
shown
that
cancellous
bone
is
relatively
preserved
in
primary
hyperparathyroidism
(
PHPT
)
,
whereas
bone
loss
is
seen
in
cortical
bone
.
Familial
hypocalciuric
hypercalcemia
(
FHH
)
patients
seem
to
preserve
bone
mineral
in
spite
of
hypercalcemia
and
often
elevated
plasma
parathyroid
hormone
(
PTH
)
.
The
objective
of
this
study
was
to
compare
total
and
regional
forearm
bone
mineral
density
(
BMD
)
in
patients
with
PHPT
and
FHH
and
to
examine
if
differences
can
be
used
to
separate
the
two
disorders
.
We
included
63
FHH
,
and
121
PHPT
patients
in
a
cross-sectional
study
.
We
performed
dual-energy
X-
ray
absorptiometry
scans
of
the
forearm
,
hip
and
lumbar
spine
and
measured
a
number
of
biochemical
variables
.
PTH
patients
had
significantly
lower
Z-
scores
in
all
parts
of
the
forearm
compared
to
FHH
.
This
was
also
the
case
after
adjustment
for
body
mass
index
.
When
stratifying
for
age
,
gender
and
PTH
,
T
-
scores
were
still
significantly
lower
in
PHPT
patients
than
in
FHH
patients
at
the
total
,
the
mid
and
the
ultradistal
forearm
,
but
not
at
the
proximal
1
/
3
forearm
.
In
a
multiple
regression
analysis
BMD
Z-
score
was
lower
in
PHPT
compared
to
FHH
at
the
total
forearm
,
the
mid
forearm
and
the
ultradistal
forearm
but
not
the
proximal
forearm
when
adjusting
for
biochemical
variables
including
PTH
,
1
,
25
(
OH
)
(
2
)
D
and
Ca
(
2
+
)
.
These
observations
support
that
inactivating
mutations
in
the
CASR
gene
in
bone
cells
in
FHH
may
protect
against
forearm
bone
loss
.
Differences
between
the
two
groups
in
total
or
regional
forearm
BMD
were
inferior
to
the
calcium
/
creatinine
clearance
ratio
as
a
diagnostic
tool
to
separate
FHH
from
PHPT
.
Diseases
Validation
Diseases presenting
"bone cells"
symptom
aromatase deficiency
familial hypocalciuric hypercalcemia
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