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Very long chain fatty acid levels in patients diagnosed with multiple sclerosis.
[adrenomyeloneuropathy]
In
clinical
practice
it
is
not
uncommon
for
patients
with
adrenomyeloneuropathy
or
female
carriers
of
adrenoleucodystrophy
to
have
a
presenting
history
and
examination
compatible
with
multiple
sclerosis
.
This
suggests
that
there
may
be
an
under-diagnosis
of
adrenoleucodystrophy
and
its
variants
in
the
multiple
sclerosis
population
.
We
measured
levels
of
very
long
chain
fatty
acids
,
which
are
typically
elevated
in
the
plasma
of
patients
with
adrenoleucodystrophy
,
in
a
large
cohort
of
patients
diagnosed
clinically
with
multiple
sclerosis
.
We
tested
serum
samples
from
patients
with
either
a
first
degree
relative
with
multiple
sclerosis
or
those
with
a
primary
progressive
phenotype
.
No
elevations
in
very
long
chain
fatty
acids
were
found
in
the
cohort
.
This
study
suggests
that
the
number
of
cases
of
adrenomyeloneuropathy
or
adrenoleucodystrophy
amongst
patients
diagnosed
clinically
with
multiple
sclerosis
is
likely
to
be
extremely
low
.
This
has
important
diagnostic
implications
.
Diseases
Validation
Diseases presenting
"first degree"
symptom
adrenomyeloneuropathy
congenital diaphragmatic hernia
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