Download Your Child`s Liver - Alpha

Alpha 1 Awareness UK
Alpha1
Antitrypsin
Deficiency
Your Child’s Liver
A guide for parents of
children diagnosed as
having the genetic
condition Alpha1
Antitrypsin Deficiency
www.alpha1awareness.org.uk
You have been told by your doctor that your child has Alpha1 Antitrypsin Deficiency and
that there may be some problems with his or her liver. This leaflet attempts to explain, using
the minimum of technical terms, what your doctor or hospital consultant may have discussed
with you. Nothing written here should be taken as a substitute for what he or she has said to
you.
The next two sections briefly explain the background to your child’s condition.
The Liver
The liver is the largest gland in the body the only organ that can repair and re-grow itself after
damage. It performs many complicated functions varying from cleansing the blood of poisons to
manufacturing bile to assist in the digestion of fat in our diets. It helps with the breakdown of
carbohydrates in our food into a form that allows a quick release of energy when needed. This is
why people with liver damage may lack energy.
The liver has many functions relating to keeping the blood clean and healthy:
 Removal of worn out red blood cells by re-using them in making bile which is used by the
body to digest food.
 Regulation of blood sugar.
 Helping the body to destroy poisons such as alcohol and other unwanted substances.
 Removal of excess amino acids in the blood by breaking them down to be passed out in
urine.
 Controlling the level of fats in the blood by making cholesterol.
 Making proteins to help the blood clot (coagulants) and others to keep the blood from
thickening too much (anticoagulants).
 Making and regulating the level of many hormones.
 Producing Alpha1 Antitrypsin which protects the body from the activity of the enzymes
released from white blood cells when the body is attacked by infecting agents such as germs,
viruses and chemical irritants.
What is Alpha1 Antitrypsin Deficiency?
Alpha1 Antitrypsin Deficiency (AATD) is a hereditary condition that occurs predominantly in
people of European extraction. In the United Kingdom about one in 2,500 people have this
condition. It is the most common genetic cause of pulmonary emphysema in adults and liver
disease in children.
People with AATD either do not produce enough of the Alpha1 Antitrypsin protein or the protein
produced is abnormal and it accumulates in the liver and is not released into the bloodstream.
What is a deficiency in the rest of the body is often a surplus of badly formed Alpha1 Antitrypsin
in the liver.
Most people with AATD do not have liver disease; others have severe disease which can lead to
scarring (cirrhosis) of the liver. The reasons for this variability are not fully understood. In addition,
there is evidence that infants, young children, and school-age children with the deficiency also
have an increased likelihood of developing bronchial disease. According to current data, only
around 2 to 5% of Alpha patients are affected by liver disease in adult age.
New-born babies can show signs that their livers are not functioning properly – jaundice, pale
stools, dark urine, etc. This is not unusual. Even babies with AATD can, and often do, become
normal healthy babies after a period of neonatal jaundice. However, if it is known that the baby is
a possible Alpha and these signs persist, hepatologists (specialists in liver diseases),
gastroenterologists and paediatricians will investigate further and endeavour to help in this
complex clinical area. They will measure the level of Alpha1 Antitrypsin (AAT) in the baby’s
blood and other chemicals related to liver function From this they will choose the most appropriate
treatment and also make an estimate of the likely progression of the condition. If the level of AAT
is very low they may make further tests to see if the baby is Alpha1 Antitrypsin Deficient.
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Generation to Generation
Our ability to make AAT is inherited through genes passed on by both parents. We have about
25,000 pairs of genes in every cell of our body. Our genes determine how our bodies grow and
develop. One of these genes is known as Protease Inhibitor (Pi). It is this gene that makes AAT.
We all have two copies of the Pi gene. We inherited one copy from our mother and the other from
our father. When we have a child we pass one of our Pi genes, and our partner provides the other.
There are more than 75 different varieties of the Pi gene. Most of these varieties result in normal
levels of AAT in the blood, but some result in low levels or no AAT. The most common varieties
are labelled M, S and Z.

Most people have two copies of type M (written PiMM) and have normal levels of AAT in
their bloodstream.

Type Z results in low levels of AAT in the bloodstream and someone with two copies of the
Z type (PiZZ) has AAT Deficiency.

Someone with one copy of type Z and a copy of type M (PiMZ) is a carrier of AAT
deficiency.

Type S results in slightly reduced levels of AAT, so someone with PiMS will probably have
less AAT than someone with PiMM but more than someone with PiMZ.
Your child has been diagnosed as being an Alpha, i.e. having two Z genes. This means that you
and the other parent of your child are at least carriers of the Z gene.
Carrier Father
Pi gene Z
Pi gene Z
Alpha1Antitrypsin
Deficient
Carrier Mother
Carrier
Carrier
Normal
In this case the probability of your child being an Alpha was one in four. If you or your partner is
an Alpha (PiZZ) then this increased to one in two. In the extremely rare case that both of you are
Alphas then all your children will be Alphas.
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Diagnosis of Liver Problems
A correct diagnosis can only be made by a trained hepatologist or gastroenterologist but here are a
few signs that you may notice.

Jaundice. Spent red blood cells break down to produce bilirubin. A damaged liver
cannot process bilirubin which consequently builds up in the blood and this causes the
skin and the whites of the eyes to appear yellow. Urine becomes darker but stools may
be light in colour because they contain less bilirubin than usual.

Severe itching. This is caused by bile products being carried to the surface of the skin.

Swelling of the abdomen by the accumulation of water. This is termed ascites.

Easy bleeding or bruising of the skin.

General failure to thrive.
Remember, jaundice is quite common in new-born babies so do not take this sign (or any of
the others) in isolation as indicating liver problems. The type of jaundice related to the liver
problem is different and can be distinguished by a simple blood test.
You may already know that you or the other parent of your child is an Alpha or a carrier of AATD.
These facts are also helpful in confirming the diagnosis. But even then most Alpha children do not
suffer from major liver failure and so your doctor may resort to Liver Function Tests to determine
the best treatments.
Liver Function Tests
This section explains what some of the standard tests are measuring. It may also make you familiar
with some of the long chemical names and their abbreviations used by physicians.
Alanine Aminotransferase (ALT) and Aspartarte Aminotransferase (AST) are enzymes that are
present in the liver cells. They leak into the blood stream when the liver cells are damaged.
Alkaline phosphatase (ALP) is an enzyme found mainly in the bile ducts of the liver. Increases in
ALP and another liver enzyme called Gamma glutamyl transferase (Gamma GT or GGT) can
indicate obstructive or cholestatic liver disease. This is when bile is not properly carried from the
liver because the bile duct is blocked. GGT and ALP are tested together to check that ALP
increases are coming from the liver and not from other sources.
Bilirubin has already been mentioned as an indicator of liver disease. Another important protein
that may be tested is Albumin. This is an important protein that helps keep fluid pressures in the
body stable and carries many substances in the body. Albumin levels may be low for a number of
reasons and so it is only used to corroborate the other tests.
The liver makes proteins which clot the blood which is a useful feature when we suffer cuts and
abrasions. A damaged liver may not produce the proteins in sufficient quantity and so the blood
becomes thin and the skin bruises easily. The test is a simple measure of the time that the blood
takes to clot – the prothrombin time.
Many of the substances tested can have abnormal levels or values for reasons not directly
connected with the liver. In addition, normal healthy livers can from time-to-time produce
substances in excess or deficiency. Even when liver damage is suspected the blood tests are not
always able to reveal the full extent. The two main techniques used to resolve this are biopsies and
sonar scans.
A liver biopsy is a direct method of assessing the extent of liver damage. A special needle is passed
through the skin from the side then between the lower ribs to sample tissue from the liver. The
specimen sample is then examined under a microscope by a specialist.
A sonar or ultra-sound scan is less invasive. It shows the size of the liver and adjacent organs and
assesses their blood supply and the presence of any unusual lumps.
4
Treatment
There is no single treatment that can be prescribed for liver damage in children caused by AATD.
In mild cases of liver distress the treatment may be to relieve the side effects. Fluid build up in the
abdomen may be reduced with a diuretic drug or by paracentesis which is the direct removal of the
fluid by needle.
Drugs may be used to correct imbalances in the levels of substances processed or created by the
liver. This is a complex area and each child is different and so the hepatologist will make a
judgement on a case by case basis.
The liver processes many of the constituents of the food that we eat and so it is essential to follow
dietary advice from your hepatologist or specialist dietician.
The general aim is to place low stress on the liver but to provide sufficient nutriments to help the
body thrive.

Good amount of fresh fruits and vegetables.

A restricted amount of protein, especially animal protein, as a diseased liver cannot
metabolise protein well.

Slightly more carbohydrate than usual in the diet. This is to compensate for the reduced
ability of the liver to convert carbohydrates to glycogen which supplies energy to other
organs. This is the underlying reason why liver patients often feel very fatigued.

There should be strict restriction of fat intake as fat can cause more damage to a
diseased liver.

You may be advised to restrict fluids and salt. The sodium in salt helps in retaining
water. Liver patients with ascites (accumulation of fluid in abdomen) will feel worse if
they consume too much water and sodium.
There may be other conditions or intolerances that must be taken into account when planning a
balanced diet and these general guidelines may be varied to account for these.
Transplants
There is no procedure or drug that can repair a damaged liver. In extreme cases of liver failure the
only option is a transplant.
A Transplant Co-ordinator may be appointed to check the availability of suitable livers for a sick
child. This may take time during which the hepatologist will monitor liver functions and continue
to give medication to control the symptoms.
Living donor transplant is also a possibility where a suitable healthy adult is prepared to donate a
part of his or her liver. This is an increasingly popular option for liver transplantation in children.
A piece of the donor’s liver (from the small bulge on the left-hand side) is removed during a simple
surgical procedure and transplanted into the recipient child. The donor’s liver will regenerate itself
to full size in a few weeks and show no signs of impairment. The liver in the child will grow
normally.
Living donor transplants are elective operations. There is time to plan these operations in detail and
schedule them for times convenient to the donor, recipient and medical staff. Most importantly the
donated liver section is outside the body for a very short time and is in the best possible condition
for the transplant.
Experience has shown that the risks to the donor are minimal for what is a relatively simple
surgical procedure. However, since AATD is a genetic condition some close family members may
be Alphas and not be ideal candidate donors.
5
Caring for Your Child
As your child grows you will want him/her to have the best opportunities to cope with, and
overcome, possible complications stemming from Alpha1 Antitrypsin Deficiency.
If your child has liver problems or has received a transplanted liver then your medical specialists
will have given you instructions on signs to look for and advice on how to respond when you see
them.
As a responsible parent of a young child you must make decisions on your child’s behalf just as an
adult Alpha would make for himself. Amongst other things this means avoiding smoke and fumes,
staying away from people with colds, etc.
Do not be overprotective of your child. A child brought up to think of himself/herself as ‘sickly’ is
starting out at a disadvantage. Many Alphas live long and healthy lives provided that they take
sensible precautions. A positive attitude is important and the condition should not be taken to be an
unmanageable burden.
As you child grows up he or she should be slowly informed of the do’s and don’ts of life as an
Alpha. Starting early with the habit of eating and enjoying a nutritious diet is a gift that will last a
lifetime. Pass on the knowledge that smoking is particularly dangerous for Alphas – and that this
extends to passive smoking. An understanding of this may help your child resist peer pressures in
teenage years. Total avoidance of alcohol is essential for liver affected Alphas.
. . . and Caring for Yourself
Your child is an Alpha therefore you and your partner are at least carriers and you could even be
Alphas. If you have not already been tested then ask your doctor to perform the tests. If you are
uncertain about any part of this then he/she may recommend that you see a genetic counsellor.
Some Alphas live their lives and have no symptoms of emphysema or liver failure. This may be
due to chance but most Alphas follow a few simple guidelines to help chance along. Even carriers
of AATD will benefit from them.






Keep your body healthy with a balanced diet and regular exercise. Infections and other
illnesses are more challenging to Alphas than to most people. Improve your defences.
Smoking is especially harmful for people with AATD. Tobacco smoke releases increased
amounts of the lung-damaging enzyme, thereby destroying more lung tissue. In addition, the
smoke destroys what little AAT may be present in the lungs. If you smoke, you should quit as
soon as possible. Certainly it is no easy matter to stop smoking, but you can do it. There are
programmes to help you kick the habit and your GP will be able to advise you further. Even
passive smoking is harmful. Ask everyone who smokes near you to refrain from doing so.
Keep away from environmental pollutants such as open fires, petrol fumes, paints and solvents,
dust, etc. If there are air-borne irritants or fumes at your place of work then wear a mask.
Heed any air quality warnings on the radio or television, especially in the hot summer months.
If ozone levels are high, try not to venture outside and avoid excessive physical exertion.
Avoid contact with anyone who has a cold or flu. In addition, try to stay away from crowds
and large gatherings, especially in winter.
Ask your GP if he/she recommends a regular flu vaccination or an occasional vaccination
against pneumococcal viruses.
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Alpha 1 Awareness UK
PO Box 2094
Bristol BS35 9DE
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