About aplastic anaemia
Although aplastic anaemia is not a malignant disease (cancer) it can be very serious, especially if the bone marrow is severely affected and there are very few blood cells left in circulation. Without adequate numbers of blood cells people with aplastic anaemia can become anaemic (low red blood cells) and more susceptible to infections (low white blood cells), and to bleeding and bruising more easily (low platelets).
The term aplastic anaemia is usually understood to refer to the acquired disorder which is a non-malignant bone marrow disease. There are other conditions that are congenital (present at birth), inherited (e.g. Fanconi Anaemia) or a form of aplastic anaemia that may develop over a person’s life as a result of treatment (like chemotherapy) for malignant diseases. These conditions need to be ruled out before a diagnosis of acquired aplastic anaemia can be made.
Fanconi anaemia can be diagnosed and distinguished from acquired aplastic anaemia by a blood test. Fanconi anaemia affects brothers and sisters within a family. Children with Fanconi anaemia are short and have abnormalities of the forearms or hands and a gradual but progressive failure of the bone marrow. The anaemia usually develops in childhood but may present later in life as adolescent or adult.
There is common thought that acquired aplastic anaemia results when the bone marrow stem cells are damaged by an auto-immune reaction in the body. An auto-immune reaction can result from no specific trigger or underlying cause. The body’s own immune system attacks its own cells in an auto-immune reaction. Some types of aplastic anaemia may have an identifiable trigger that caused the auto-immune response.
How common is aplastic anaemia?
There is no consensus on the incidence of aplastic anaemia in Australia. Worldwide figures suggest the incidence of aplastic anaemia is 0.7-4.1 cases per million people.
Who gets aplastic anaemia?
Aplastic anaemia is more commonly diagnosed in patients aged between 10 and 20, and over 40. There is a slight increased incidence in men compared to women.
Causes of aplastic anaemia
In the majority of cases aplastic anaemia is an acquired disorder that develops at some stage in the person’s life. This means that it is usually not inherited (passed down from parent to child), and it is not present at birth. Several potential triggers for the development of aplastic anaemia have been identified and these include:
- exposure to certain drugs – these include certain drugs to treat arthritis or an over active thyroid, some drugs used in psychiatry and a few antibiotics. The risk of aplastic anaemia resulting from taking these drugs is very small.
- exposure to certain chemicals – there is a long list of chemicals which have been suspected of causing aplastic anaemia. The link between these chemicals and the incidence of aplastic anaemia is often very weak.
- viruses – some patients diagnosed with aplastic anaemia have suffered a virus in the weeks prior to their diagnosis
- radiation exposure.
However, in many cases of aplastic anaemia the cause remains unknown and with children it is often impossible to prove what caused the aplastic anaemia.
Symptoms of aplastic anaemia
The main symptoms of aplastic anaemia are caused by a lack of normal blood cells. Common symptoms include:
- anaemia due to a lack of red cells, causing persistent tiredness, dizziness, paleness, or shortness of breath when physically active
- frequent or repeated infections and slow healing, due to a lack of normal white cells, especially neutrophils
- increased or unexplained bleeding or bruising, due to a very low platelet count.
Occasionally people have no symptoms at all and aplastic anaemia is diagnosed during a routine blood test. Some of these symptoms described may also be seen in other illnesses, including viral infections, so it is important to see your doctor so that you can be examined and treated properly.
Diagnosis of aplastic anaemia
Aplastic anaemia is diagnosed by examining samples of your blood and bone marrow.
Full blood count
The first step in the diagnosis is a simple blood test called a full blood count (FBC) or complete blood count (CBC), wherea sample of blood from a vein in your arm is sent to the laboratory for investigation. An aplastic anaemia diagnosis needs to be confirmed by examining your cells in your bone marrow.
Bone marrow examination
If the results of your blood tests suggest that you might have aplastic anaemia, a bone marrow biopsy may be required to help confirm the diagnosis. A bone marrow biopsy involves taking a sample of your bone marrow, usually from the back of the hip bone and sending it to the laboratory for examination under the microscope. The bone marrow biopsy may be done in the haematologist’s rooms, clinic or day procedure centre and is usually performed under local anaesthesia with sedation given either by tablet or through a small drip in your arm.
The sample of bone marrow is examined in the laboratory to determine the number and type of cells present and the amount of haemopoiesis (blood-forming) activity taking place there. Patients with aplastic anaemia will have reduced numbers of white cells, red cells and platelets in their blood.
Other tests
These tests provide more information about the exact type of disease you have, the likely course of your disease and the best way to treat it. Further tests may be conducted to provide information on your general health and how your vital organs are functioning. These include a combination of further blood tests and imaging tests (x-rays, scans and ECG). These results will provide a baseline of your disease and general health which will be compared with later results to assess how well you are progressing and responding to treatment.
All of these tests allow the treating specialist to diagnose the severity of the aplastic anaemia. Aplastic anaemia can be classified as severe or mild. Severe anaemia requires immediate treatment and you or your child’s treating doctor will discuss the treatment options with you.
Treatment of aplastic anaemia
The treatment for aplastic anaemia depends on several factors including the cause of the disease (if this can be identified), its severity, the person’s age and the general health of the patient. Your specialist will discuss treatment options with you. Sometimes a patient will end up undergoing different treatment options if their response to the first type of treatment is not positive.
Types of treatment
Immunosuppressants
Immunosuppressants are drugs that affect the function of the immune system. For most patients, immunosuppression will be the initial treatment of choice. Treatment is aimed at suppressing the destruction of blood stem cells that occurs in aplastic anaemia. This type of treatment can weaken your general immune system and make you more susceptible to infections while undergoing the treatment. It is important to realise that with this treatment, signs of recovery may not appear before six weeks into the treatment and often will take a lot longer. The aim of this treatment is to reduce, and ideally eliminate, the need for transfusions and restore protection from infections.
Stem cell transplant
An allogeneic (donor) stem cell transplant may be recommended as a curative option for younger people.
Supportive therapies
Supportive therapies are also important. Blood transfusions are often required to replace circulating blood cells while antibiotics may be used to treat infections. Patients undergoing supportive therapies need regular monitoring to detect any change in their condition.
Relapse
People with aplastic anaemia may show residual damage in their bone marrow following treatment despite normal blood counts. Unfortunately some patients who are successfully treated for aplastic anaemia relapse with their disease. Generally the relapse of aplastic anaemia is not the result of re-exposure to the original trigger of the disease. Relapse can occur as a result of pregnancy or when the immune system is heavily challenged.
A child’s prognosis with aplastic anaemia is dependent on a few factors including the severity of their disease. Currently a child treated with immunosuppressive treatment has around an 80 percent chance of responding to treatment and requiring no further treatment options. A child who undergoes a donor transplant from a matched sibling has around a 90 percent chance at cure.
Your doctor or your child’s treating doctor will discuss with you treatment options in the occurrence of relapse.
Side effects of aplastic anaemia treatment
All treatments can cause side effects. However, the type and severity will vary between individuals, depending on the type of treatment used and how an individual responds to it. In general, more intensive treatment is associated with more severe side effects. It is important to report any symptoms you are having to your doctor or nurse. In most cases they can be treated and are reversible.
When to contact your doctor or hospital
As a general rule, while you are having treatment you will need to contact your doctor or hospital immediately if you have any of the following:
- a temperature of 38oC or over (even if it returns to normal) and/or an episode of uncontrolled shivering (a rigor)
- bleeding or bruising, for example blood in your urine, faeces, sputum, bleeding gums or a persistent nose bleed
- nausea or vomiting that prevents you from eating or drinking or taking your normal medications
- severe diarrhoea, stomach cramps or constipation
- coughing or shortness of breath
- a new rash, reddening of the skin, itching
- a persistent headache
- a new pain or soreness anywhere
- if you cut or otherwise injure yourself
- if you notice pain, swelling, redness or pus anywhere on your body.
Chemotherapy side effects
Effects on the bone marrow
Chemotherapy affects the bone marrow’s ability to produce adequate numbers of blood cells. As a result, your blood count (the number of white cells, platelets and red cells circulating in your blood) will generally fall within a week of treatment. The length of time it takes for your bone marrow and blood counts to recover mainly depends on the type of chemotherapy given.
When your platelet count is very low (thrombocytopenic) you can bruise and bleed more easily. During this time it is helpful to avoid sharp objects in your mouth such as chop bones or potato chips as these can cut your gums. Using a soft toothbrush also helps to protect your gums. In many cases a transfusion of platelets is given to reduce the risk of bleeding until the platelet count recovers.
If your red blood cell count and haemoglobin levels drop you will probably become anaemic. When you are anaemic you feel more tired and lethargic than usual. If your haemoglobin level is very low, your doctor may prescribe a blood transfusion.
Risk of infection
The point at which your white blood cell count is at its lowest is called the nadir. This is usually expected 10 to 14 days after having your chemotherapy. During this time you will be at a higher risk of developing an infection. At this stage you will also be neutropenic, which means that your neutrophil count is low.
Neutrophils are important white blood cells that help us to fight infection. While your white blood cell count is low you should take sensible precautions to help prevent infection. These include avoiding crowds, avoiding close contact with people with contagious infections (for example colds, flu, chicken pox) and only eating food that has been properly prepared and cooked. If you do develop an infection you may experience a fever, which may or may not be accompanied by an episode of shivering where you shake uncontrollably. Infections while you are neutropenic can be quite serious and need to be treated with antibiotics as soon as possible. Sometimes your doctor may decide to use a drug to help the recovery of your neutrophil count. This drug works by stimulating the bone marrow to increase the production of neutrophils and is usually given as an injection under the skin (subcutaneous).
Nausea and vomiting
Nausea and vomiting are often associated with chemotherapy and some forms of radiotherapy. These days however, thanks to significant improvements in anti-sickness (anti-emetic) drugs, nausea and vomiting are generally very well controlled. You will be given anti-sickness drugs before and for a few days after your chemotherapy treatment. Be sure to tell the nurses and doctors if the anti-emetics are not working for you and you still feel sick. Some people find that eating smaller meals more frequently during the day, rather than a few large meals, helps to reduce nausea and vomiting. Many find that eating cool or cold food is more palatable, for example jelly or custard. Drinking ginger ale or soda water and eating dry toast may also help if you are feeling sick.
Changes in taste and smell
Both chemotherapy and radiation therapy can cause changes to your sense of taste and smell. This is usually temporary but in some cases it lasts up to several months.
Mucositis
Mucositis, or inflammation of the lining of the mouth, throat or gut is a common and uncomfortable side effect of chemotherapy and some forms of radiotherapy. It usually starts about a week after the treatment has finished and goes away once your blood count recovers, usually a couple of weeks later. During this time your mouth and throat could get quite sore. Solublepain medication and other topical drugs (ones which can be applied to the sore area) can help. If the pain becomes more severe, stronger pain killers might be needed. It is important to keep your mouth as clean as possible while you are having treatment to help prevent infection. Avoid commercial mouthwashes, these are often too strong, or they may contain alcohol, which will hurt your mouth.
Bowel changes
Chemotherapy can cause some damage to the lining of your bowel wall. This can lead to cramping, wind, abdominal swelling and diarrhoea. Be sure to tell the nurses and doctors if you experience any of these symptoms. If you develop diarrhoea, a specimen will be required from you to ensure that the diarrhoea is not the result of an infection. After this you will be given some medication to help stop the diarrhoea and/or the discomfort you may be feeling. It is also important to tell the nurse or doctor if you are constipated or if you are feeling any discomfort or tenderness around your anus when you are trying to move your bowels. You may need a gentle laxative to help soften your bowel motion.
Hair loss
Hair loss is unfortunately a very common side effect of chemotherapy and some forms of radiotherapy. It is, however, usually only temporary. The hair starts to fall out within a couple of weeks of treatment and tends to grow back three to six months later. Avoiding the use of heat or chemicals and only using a soft hairbrush and a mild baby shampoo can help reduce the itchiness and scalp tenderness which can occur while you are losing your hair. You need to avoid direct sunlight on your exposed head (wear a hat) because chemotherapy (and radiotherapy) makes your skin even more vulnerable to the damaging effects of the sun (i.e. sunburn and skin cancers). Remember that without your hair your head can get quite cold so a beanie might be useful. Hair can also be lost from your eyebrows, eyelashes, arms and legs.
Fatigue
Most people experience some degree of tiredness in the days and weeks following chemotherapy and radiotherapy. Having plenty of rest and a little light exercise each day may help to make you feel better during this time. It is important to listen to your body and rest when you are tired.
Fertility
Some types of chemotherapy and radiotherapy may cause a temporary or permanent reduction in your fertility. It is very important that you discuss any questions or concerns you might have regarding your future fertility with your doctor if possible before you commence treatment. In women, some types of chemotherapy and radiotherapy can cause varying degrees of damage to the normal functioning of the ovaries.
In men, sperm production can be impaired for a while but the production of new sperm may become normal again in the future. There are some options for preserving your fertility, if necessary, while you are having treatment for aplastic anaemia.
Early menopause
Some cancer treatments can affect the normal functioning of the ovaries. This can sometimes lead to infertility and an earlier than expected onset of menopause, even at a young age. The onset of menopause in these circumstances can be sudden and, understandably, very distressing. Hormone changes can lead to many of the classic symptoms of menopause. Some women experience decreased sexual drive, anxiety and even depressive symptoms during this time. It is important that you discuss any changes to your periods with your doctor or nurse.
Body image, sexuality and sexual activity
Hair loss, skin changes and fatigue can all interfere with how you feel about yourself as a man or a woman and as a “sexual being”. During treatment you may experience a decrease in libido and it may take some time for things to return to “normal”. It is perfectly reasonable and safe to have sex while you are on treatment or shortly afterwards, but there are some precautions you need to take. It is usually recommended that you or your partner do not become pregnant as some of the treatments given might harm the developing baby. As such, you need to ensure that you or your partner uses a suitable form of contraception. Partners are sometimes afraid that sex might in some way harm the patient. This is not likely as long as the partner is free from any infections and the sex is relatively gentle. Finally, if you are experiencing vaginal dryness, a lubricant can be helpful.
Caring for someone with aplastic anaemia
We have a range of information and resources that may help when you are caring for someone with aplastic anaemia.
