fighting childhood

liver disease

Wilsons Disease
a guide
Medical Information Series

Welcome
This leaflet has been written for:

Parents/carers of a child/young person diagnosed with Wilsons Disease

Young people diagnosed with Wilsons Disease

Others who may find this leaflet helpful are:

Relatives and friends

Healthcare and allied professionals, school, college, university and nursery teams

This leaflet aims to:

Explain Wilsons Disease and the signs and symptoms

Explain diagnosis and treatment

Give some information on the genetic aspects of Wilsons Disease

You may find it helpful to read the following CLDF leaflets:

Guide to the liver

Glossary of terms

Routine investigations for liver disease

Childrens Liver Disease Foundation (CLDF) also has leaflets in its support series which are
available to download from our website childliverdisease.org. Leaflets can be mailed to UK
patients free of charge, our contact details are on this leaflet. You may find it helpful to have a
copy of CLDFs making the most of an appointment leaflet which will help you prepare for
appointments and meetings following discharge.
We also have the following information packs available, free of charge:

Essential 5 CLDFs starter kit of vital information

Education a pack supporting children and young people under 18 in an

educational setting

GP Practice a pack for families to give to their GP providing a range of

information on childhood liver disease

Friends and Relatives

Yellow Alert a pack to support CLDFs Yellow Alert Campaign for early
diagnosis of liver disease in new born babies

All are available on request to UK families and young adults.

Overseas families should contact CLDF to discuss their literature needs.
EuroWilson is a project set up initially with an EU grant to develop a Europe wide clinical
database of patients. The longer term goal has been to develop research projects including
clinical trials as well as provide information for professionals, patients and families. Work continues
on this excellent project thanks to the dedication and inspiration of European professionals who
strive to provide the best support for their patients. For more information go to Eurowilson.org.

What is Wilsons Disease?

Wilsons Disease is an inherited condition
in which copper is not excreted properly
from the body. The excess copper can
build up in the liver and/or brain causing
liver damage and/or neurological problems.
It can also collect in other parts of the body
including the eyes and the kidneys.
The first signs are hepatic (liver) in 40%
of cases, neurological (brain) in 35% of
cases and psychiatric, renal (kidney),
haematological (blood), or endocrine
(glands) in the remainder. Between half
to two-thirds of Wilsons Disease patients
show symptoms before the age of 15 years
and the majority of these will have liver
disease. This leaflet is written for this group
of patients.
In the UK approximately 1 in 100,000
people have Wilsons Disease.

How does copper come to

be in the body?
Copper is essential to life and is found in
many foods and in drinking water. Each
daywe take in approximately 1mg copper.
Foods which are particularly rich in copper
include liver and shellfish. Other offal, nuts
and seeds contain copper but less than
liver and shellfish. Large intakes of dark
chocolate may increase copper intake but
is less significant. Copper deficiency can
cause anaemia and poor growth.

What are the signs and

symptoms of Wilsons
Disease?
In some cases these can be very mild,
everyday symptoms such as tiredness,
loss of appetite, abdominal pain, vomiting,
weight loss, nose bleeds and anaemia.
These symptoms may come and go over a
period of months or even years or be more
persistent. Some patients also experience
chronic joint or kidney problems. In other
cases the symptoms may be more acute.

What kinds of liver disease

can Wilsons Disease cause?

acute liver failure; in this case the patient

is likely to be extremely ill

acute hepatitis this is a sudden

inflammation of the liver

chronic hepatitis inflammation of the

liver over a period of time

cirrhosis severe damage and scarring

of the liver.

What kinds of neurological

problems can be caused by
Wilsons Disease?
The early changes may be very subtle and
therefore difficult to diagnose. However, a
range of problems may occur and could
include deteriorating school or college
performance, changes in behaviour or
personality, deterioration of motor skills
such as handwriting or balance. With
progression of the disease and without
treatment there may be tremors, rigidity,
and further loss of motor skills.

Wilsons Disease a guide

01

How is Wilsons
Disease diagnosed?
Wilsons disease may be considered in any
child over 3 years of age who has acute
or chronic liver disease where the more
common causes have been ruled out.
The copper accumulation in the eye in
Wilsons Disease may cause a diagnostic
golden-brown ring to form around the
edge of the iris, called a Kayser-Fleischer
ring. This ring is only visible using a special
instrument (slit-lamp) and is rarely present
before the age of 10 years. Unfortunately,
there are no other physical signs which
distinguish Wilsons Disease from any other
liver problem.
There are three standard laboratory tests:

Urine copper is high; this is best

measured in two 24 hour urine
collections before and after a test dose
of penicillamine is given. Penicillamine
enables excess copper to be excreted.

Caeruloplasmin, a copper-containing
protein in blood plasma, is usually low.

The copper concentration measured in a

liver biopsy specimen will be high.

In cases which are difficult to diagnose

copper isotope studies (more complex
copper tests) may be carried out.

02

Wilsons Disease a guide

Can Wilsons Disease be

treated?
There are two forms of treatment for
Wilsons Disease: medicine treatment and
liver transplantation. Medicine treatment is
used wherever possible to prevent or delay
the need for liver transplantation. Children
(or adults) who are found to have Wilsons
Disease when they are tested because a
sibling has been diagnosed respond very
well to medicine treatment. This prevents
symptoms developing if medication is
continued correctly. For those who already
have symptoms the possibility and success
of medicine treatment will depend on the
degree of liver damage already sustained.
This will be determined by a number of
blood tests and scans; it may take some
weeks to know whether medicine treatment
may be effective.

What medicine treatment

is available?
The three most commonly used medicines
are penicillamine, trientine and zinc. Others
are under consideration and research
continues in this field.

Penicillamine
This medicine is unrelated to penicillin.
Penicillamine binds with the copper
in the body enabling more of it to be
excreted in the urine. It also reduces the
toxicity of the copper which stays within
the liver. This medicine has been used
successfully in the treatment of Wilsons
Disease since 1956.

There are some side effects and these

include:

Interruption of the way the body

absorbs and uses the vitamin
pyridoxine (vitamin B6). Patients
taking penicillamine must therefore
also take pyridoxine to prevent
weakness of the muscles, particularly
the peripheral muscles.

Skin rashes.

Protein in the urine; this is rarely

severe. The urine is tested during the
initial phase of treatment.

Blood disorders. Blood tests are

taken at the first appointment and
subsequent check-up appointments.

Trientine
Trientine acts in the same way as
penicillamine. In the past it was
difficult to obtain and was mainly
used for patients who could not take
penicillamine. It is now more easily
available, and may be chosen instead of
penicillamine. The side effects are similar
to those for penicillamine, but seem to
occur less frequently.
Zinc
Zinc reduces the amount of copper
whichis absorbed from the gut. Like
penicillamine, it also reduces the toxicity
of the copper which stays within the
liver. Itisnot very palatable but is
very safe. Itmay irritate the stomach
causing discomfort. If this occurs it
may be relieved by eating a slice of
meat at the same time and not taking it
before breakfast. Zinc may be used in
combination with either penicillamine or
trientine.

Your doctor will advise you which treatment

is the most appropriate for you.

When is it best
to take the medicines?
Penicillamine, trientine and zinc are all most
effective if taken on an empty stomach, at
least one hour before food or two hours
after food. The doses should be spaced
as evenly as possible over 24 hours, e.g.
if taken twice a day, each dose should
be approximately 12 hours apart. Zinc
may sometimes be prescribed three
times a day. If zinc is being taken with
trientine or penicillamine it should be taken
approximately midway between doses of
these. The pyridoxine is also taken twice
a day and should be taken as far away
as possible from penicillamine times. The
timing of pyridoxine in relation to zinc or
food is not important.

How long does

treatment continue?
Treatment is necessary for life. The
effectiveness and side effects of treatment
will be monitored at regular hospital followup visits which include blood and urine
tests. If taken correctly and continuously,
treatment is very effective. If doses are
missed regularly or treatment stopped for a
period of time, the liver and/or brain may be
permanently damaged before any problems
are noticed.

Will a special diet

be necessary?
The very high copper foods (see at the
start of this leaflet) are best avoided, your
doctor may ask a dietitian to advise you.
Otherwise, there are no dietary restrictions.

Wilsons Disease a guide

03

Plumbing is sometimes
copper, is tap water safe?
Water from a cold tap from a mains supply
is quite safe. No one should drink water
from a hot tap. Water from a private well
should be tested for acidity.

Are there any restrictions

on lifestyle?
For those who are well at the time
the disease is diagnosed there will be
no restrictions. Established liver and/
or neurological damage have their own
implications which your doctor will discuss
with you. The non-specific signs such as
lethargy, abdominal pain and nausea will
settle but if pronounced may take some
weeks or even months to do so. During
thistime physical activity, schooling and/
or work may need to be reduced and then
gradually increased back to normal as
symptoms subside. If schooling is severely
interrupted a period of home tuition may
behelpful.

When is a liver transplant

necessary?
There are four reasons why liver
transplantation may be necessary:

04

Acute liver failure.

Failure of medication to halt the

progression of liver damage.

Complications of liver damage which

occurred before treatment started.

Further liver damage caused by

medication not being taken.

Wilsons Disease a guide

Does a liver transplant

cure Wilsons Disease?
Following successful transplantation
copper is excreted properly from the body.
However, liver transplantation is a major
operation with some risks and it is still
necessary to take medication and attend
hospital for check-ups for the rest of your
life. Your doctor will only recommend
liver transplantation if it is too late for the
medicines to work or they do not work
properly.
Following liver transplantation although the
problem with copper excretion has been
dealt with, the person will still pass the
Wilsons gene, but not the disease, on to
any children they have.

What about genetic tests?

There are many different genetic mutations
causing Wilsons Disease. Different ethnic
groups have different mutations and many
UK patients have two different Wilsons
disease genes. So genetic tests may not be
a quick and easy answer. The three good
pieces of news about DNA tests are:

If a known patients DNA is examined, it

becomes possible to screen other family
members.

The mutations known to occur in

particular ethnic groups can be tested
for quite easily.

New methods are becoming available

through research.

How is it inherited?

It is autosomal recessive. This means to
develop Wilsons Disease a person must
have two Wilsons Disease genes, one
inherited from each parent who are healthy
carriers, or have Wilsons Disease.

What is the Wilsons

Disease gene?
A length of DNA which instructs liver
cells to make a special protein, a copper
pump, which transports copper out of the
liver cells into bile.

If two parents have a child

with Wilsons Disease, what
is the risk their next child will
be affected?

Is pregnancy safe if I
have Wilsons Disease?
Many women with well-controlled Wilsons
Disease have had successful and safe
pregnancies. Neither the disease nor its
treatment are of themselves hazards in
pregnancy. However, severe liver damage
or portal hypertension from whatever cause
may affect your pregnancy, which your
doctor and obstetrician will discuss with
you. It is advisable to inform your specialist
if you plan to become pregnant.

1 in 4 for any future child.

Are males and females

affectedequally?

Should I stop treatment

during pregnancy?
NO! That would be very hazardous indeed.

Yes.

I would like the baby tested

for Wilsons Disease. When
can this be done?

If I have Wilsons Disease,

will my children have it?
No, unless your partner is a carrier.
Assuming your partner is not related to you,
the risk of this is very low. Your children will
be carriers.

If I have Wilsons Disease

should other family members
be screened?
Your brothers and sisters definitely should.
For less close relatives, the risk is small
unless cousincousin relationships occur.
DNA tests now make it possible to test
relatives for carrier status.
It may be helpful to speak to a genetic
counsellor before having a test.

The standard biochemical tests are not

reliable until your baby is at least 6 months
of age.

If my baby did have Wilsons

Disease, when would
treatment be started?
A difficult question! Certainly not before
2 years of age, and then only after very
careful evaluation.

What is the most important

message about Wilsons
Disease?
Do not stop treatment it is very
dangerous to do so!

Wilsons Disease a guide

05

Is there a charity taking

action against the effects
of childhood liver disease?
Yes. Started by families in 1980, Childrens
Liver Disease Foundation (CLDF) leads the
way in fighting all childhood liver disease.
CLDF funds vital research, develops
information and awareness programmes
and supports families, young people and
adults diagnosed in childhood who are
living day in, day out with a liver condition
or transplant. And its work has made a big
difference and continues to help save lives.
CLDF has so much to offer you:
information, the opportunity to meet other
families, events and regular updates. To find
out more, call, email or write today:
Childrens Liver Disease Foundation,
36Great Charles Street, Birmingham,
B33JY
0121 212 3839
Main site: childliverdisease.org
Young Peoples site: cldf-focus.org
info@childliverdisease.org

What are the roles of CLDFs

Family and Young Peoples
teams?
CLDFs Family and Young Peoples teams
are here for you, whether you want to talk
about issues affecting you, meet and share
with others or just belong to a group which
cares, knows what its like and is fighting to
make a difference. You are not alone.

Our parents say . . .

. . . We dont know how we would have
coped without CLDFs care and support.
They have been just fantastic from the
outset tremendous people, who are
compassionate and so positive. They really
care about families and children struggling
with liver disease.
When Emily was very ill we felt we were on
the sidelines, knowing we couldnt influence
the outcome and not in control. Getting
involved in fundraising is something you can
control and achieve a positive result. I really
took comfort from that.
Our young people say . . .
Knowing CLDF is there is what I need.
Ican call whenever I want. Whatever I think
and feel is listened to. Even when I called to
tell them it was my birthday!
I feel really well. Its great that CLDF has
given us the chance to meet other young
people outside of the hospital and have a
fun time. I want them to do more things
likethis.
Families Team
families@childliverdisease.org
0121 212 6023
Young Peoples Team
youngpeople@childliverdisease.org
0121 212 6023

Childrens Liver Disease Foundation: 2000

Updated: July 2005; April 2006; February,
September 2008; February 2011; April 2012; August 2013

Wilsons Disease a guide

06

To make a one-off gift or set up a direct debit gift online,

go to childliverdisease.org
Id like to make a gift to CLDF
How much? 10 20 Other ...............
I enclose a cheque made payable to Childrens Liver Disease Foundation
I wish to pay by card MASTERCARD / VISA / DEBIT CARD (delete as appropriate)
Card No. Expiry Date ...... /...... /......
Name on Card ............................................. Security Number: ................ (back of card)

Id like to make a regular gift by direct debit to CLDF

How much? 5 10 20 25 50 other ...........
How often? monthly quarterly half-yearly annually
My bank details:
Bank name: ...................................................... Branch name: ..............................................
My bank address: ..................................................................................................................
.................................................................................................. Postcode: ............................
My bank sort code: My bank account number: .........................................
Please pay to Childrens Liver Disease Foundation, account no. 00181442, sort code: 12-05-65
Starting on ...... /...... /...... until further notice. My signature: ................................................
Are you a UK taxpayer? Yes / No If yes, please give your gift under Gift Aid.
This means that CLDF can claim the basic rate of tax you have already paid on the
amount you are donating. It will not cost you anything.
In order to qualify you must have paid enough UK income or capital gains tax to cover all
your charitable donations. Other taxes such as Council Tax or VAT do not apply. We will
confirm all gift aid details in your acknowledgement letter.
Yes, please treat this and any future donations as given under gift aid. Date: ................
About you:
First name: ............................ Surname: ..........................Title: Mr / Mrs / Ms / Miss / ..........
My address is: ........................................................................................................................
....................................................................................... Postcode: .......................................
Home telephone: ........................................ Mobile: ............................................................
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To claim gift aid we are required to have your full name and address including postcode.
Please return your completed form to CLDF, address below. Thank you.
Childrens Liver Disease Foundation, 36 Great Charles Street, Birmingham B3 3JY

Donation, Regular Gift & Gift Aid Declaration Form

Childrens Liver Disease Foundation is the UKs leading organisation

dedicated to taking action against the effects of childhood liver disease.
It provides free of charge:

A huge selection of literature and online animations on the working of the liver available in
print and online

Information packs for a wide range of audiences, including young people, parents/carers,
GP practices, schools and nurseries, friends and relatives

Families and young peoples teams providing services in person, online, facebook, text
and phone

Developing services for adults diagnosed with a liver disease in childhood

Website childliverdisease.org

Young peoples website cldf-focus.org

National event programme for families and young people to meet, share and have fun

Secure online message board childliverdisease.org/forum

Around 75% of CLDFs annual income is derived from voluntary donations. Please help us
to continue to support young people, families and adults diagnosed in childhood by making
a donation. You can do this online or by completing the donation form in this leaflet. Even
better, a regular direct debit gift will enable us to plan our work more fully.
Thank you.
Childrens Liver Disease Foundation
36 Great Charles Street
Birmingham
B3 3JY
0121 212 3839

info@childliverdisease.org

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