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[Hereditary variants of primary hyperparathyroidism--MEN1, MEN2, HPT-JT, FHH, FIHPT].
[familial hypocalciuric hypercalcemia]
The
challenge
in
diagnosing
primary
hyperparathyroidism
(
HPT
)
is
to
detect
hereditary
cases
before
first
surgery
.
About
5
%
of
cases
are
hereditary
and
integral
component
of
multiple
endocrine
neoplasia
type
1
and
2
(
MEN
1
/
MEN
2
)
,
hyperparathyroidism-jaw
tumor
syndrome
(
HPT-JT
)
,
familial
hypocalciuric
hypercalcemia
(
FHH
)
,
and
familial
isolated
hyperparathyroidism
(
FIHPT
)
.
Aim
of
this
study
was
to
evaluate
similarities
and
differences
in
hereditary
varieties
of
HPT
.
80
patients
with
hereditary
HPT
were
evaluated
in
a
retrospective
analysis
between
1980
and
2010
concerning
clinical
findings
,
family
history
,
therapy
,
biochemical
and
molecular-genetic
findings
and
follow-up
.
80
patients
with
hereditary
HPT
are
described
,
52
belonged
to
MEN
1
,
15
to
MEN
2
,
7
to
HPT-JT
,
4
to
FHH
and
2
to
FIHPT
kindreds
.
Penetrance
of
HPT
was
highest
in
MEN
1
(
85
%
)
,
followed
by
HPT-JT
(
64
%
)
,
FHH
(
28
.
5
%
)
,
and
MEN
2
(
8
%
)
.
Youngest
age
at
diagnosis
of
HPT
was
7
and
16
years
in
the
MEN
2
/
HPT-JT
group
.
Serum
Calcium
was
highest
in
the
HPT-JT
group
(
3
.
6
mM
)
,
recurrencies
of
HPT
were
highest
in
the
MEN
1
group
(
40
.
5
%
)
.
Parathyroid
cancer
solely
occurred
in
the
HPT-JT
group
.
In
single
cases
HPT
occurs
in
FHH
.
Among
the
different
varieties
of
hereditary
HPT
MEN
1
-
HPT
is
most
frequent
and
carries
the
utmost
recurrence
rate
.
Early
diagnosis
of
HPT-JT
syndrome
is
important
because
of
the
occurrence
of
parathyroid
cancer
.
Single
cases
of
HPT
in
FHH
are
described
.
Preoperative
diagnosis
of
hereditary
HPT
has
therapeutic
consequences
concerning
extent
of
surgery
and
implications
concerning
patient
and
family
care
.
Diseases
Validation
Diseases presenting
"parathyroid cancer"
symptom
familial hypocalciuric hypercalcemia
This symptom has already been validated
