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UK experience of liver transplantation for erythropoietic protoporphyria.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
characterised
by
excess
production
of
free
protoporphyrin
from
the
bone
marrow
,
most
commonly
due
to
deficiency
of
the
enzyme
ferrochelatase
.
Excess
protoporphyrin
gives
rise
to
the
cutaneous
photosensitivity
characteristic
of
the
disease
,
and
in
a
minority
of
patients
leads
to
end-
stage
liver
disease
necessitating
liver
transplantation
(
LT
)
.
There
is
limited
information
regarding
the
timing
,
impact
and
long
-term
outcome
of
LT
in
such
patients
,
thus
we
aimed
to
identify
the
indications
and
outcomes
of
all
transplants
performed
for
EPP
in
the
UK
using
data
from
the
UK
Transplant
Registry
.
Between
1987
and
2009
,
five
patients
underwent
LT
for
EPP
liver
disease
.
Median
follow-up
was
60
months
,
and
there
were
two
deaths
at
44
and
95
months
from
causes
unrelated
to
liver
disease
.
The
remaining
recipients
are
alive
at
22
.
4
years
,
61
months
and
55
months
after
transplant
.
A
high
rate
of
postoperative
biliary
stricturing
requiring
multiple
biliary
interventions
was
observed
.
Recurrent
EPP
-
liver
disease
occurred
in
4
/
5
(
80
%
)
of
patients
but
graft
failure
has
not
been
observed
.
Given
the
role
of
biliary
obstruction
in
inducing
EPP
-mediated
liver
damage
,
we
suggest
that
consideration
should
be
given
for
construction
of
a
Roux
loop
at
the
time
of
transplant
.
Thus
we
demonstrate
that
although
EPP
liver
transplant
recipients
have
a
good
long
-term
survival
,
comparable
to
patients
undergoing
LT
for
other
indications
,
biliary
complications
and
disease
recurrence
are
almost
universal
,
and
bone
marrow
transplantation
should
be
considered
where
possible
.
Diseases
Validation
Diseases presenting
"bone marrow"
symptom
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
cohen syndrome
cushing syndrome
cutaneous mastocytosis
erdheim-chester disease
erythropoietic protoporphyria
focal myositis
hodgkin lymphoma, classical
krabbe disease
legionellosis
liposarcoma
monosomy 21
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pyomyositis
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
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