Aplastic Anaemia
Aplastic anaemia is a rare but serious blood disorder that occurs when your bone marrow stops making enough new blood cells, leaving you tired, prone to infections, and at risk of uncontrolled bleeding.
Table of contents
- What is aplastic anaemia?
- Signs and symptoms
- What causes aplastic anaemia?
- Possible complications
- How is it diagnosed?
- Treatment options
- Living with aplastic anaemia
What is aplastic anaemia?
Aplastic anaemia is a condition that happens when your bone marrow (the red, spongy material inside your bones that produces blood cells) stops making enough new blood cells[1]. The condition leaves you with low levels of all three types of blood cells: red blood cells, white blood cells, and platelets[2].
This is a rare condition that can develop at any age, though it typically affects people ages 15 to 25 and age 60 and older[2]. Each year, 300 to 900 people in the United States receive an aplastic anaemia diagnosis, and studies show it affects 2 in 1 million people in Europe[2].
The condition can happen suddenly or it can come on slowly and worsen over time. It can be mild or severe[1]. Left untreated, aplastic anaemia is a life-threatening condition, but there are treatments available to manage symptoms, and a stem cell transplantation (also known as a bone marrow transplant) is the only cure[2].
- Bone marrow
- Blood cells
Signs and symptoms
Aplastic anaemia can have no symptoms at all in some people. When symptoms are present, they usually develop over weeks and months, so you may not notice changes in your body right away[2]. In some cases, people have immediate severe symptoms[2].
When present, symptoms can include[1][2]:
- Fatigue and extreme tiredness
- Shortness of breath (also called dyspnoea)
- Rapid or irregular heart rate
- Frequent or prolonged infections that last longer than usual
- Unexplained or easy bruising
- Nosebleeds and bleeding gums
- Prolonged bleeding from cuts
- Pale skin
- Skin rash
- Dizziness
- Headache
- Fever
Some aplastic anaemia symptoms mimic other, less serious illnesses. Having a cold or flu doesn’t mean you have aplastic anaemia. You should talk to a healthcare provider if you’ve been sick for several weeks and you feel very tired all the time[2].
What causes aplastic anaemia?
Experts don’t know all the reasons why people develop aplastic anaemia. In about half of cases, the cause is unknown, which is called idiopathic aplastic anaemia[3][4]. When the cause is known, it typically happens when your immune system attacks your bone marrow so it can’t make stem cells (the basic cells that develop into the three types of blood cells)[2][7].
Aplastic anaemia can be broadly classified into acquired or inherited categories[3].
Medical conditions
Medical conditions that can increase your risk include[2]:
- Autoimmune diseases (diseases that make your body attack itself) like lupus
- Viral infections such as Epstein-Barr virus, cytomegalovirus (CMV), parvovirus B19, human immunodeficiency virus (HIV), and infectious mononucleosis[7]
- Paroxysmal nocturnal hemoglobinuria, an acquired disorder when your red blood cells break down too quickly
- Pregnancy
Inherited conditions
Experts link aplastic anaemia to several inherited bone marrow failure syndromes. Bone marrow failure happens when your bone marrow doesn’t produce enough stem cells[2]. Inherited conditions include[2]:
- Fanconi anaemia (the most common hereditary cause[3])
- Dyskeratosis congenita
- Shwachman-Diamond syndrome
- Diamond-Blackfan anaemia
- Pearson syndrome
Medical treatments and environmental exposures
Certain medical treatments put you at a higher risk of developing aplastic anaemia[2]:
- Autoimmune disease treatments
- Radiation and chemotherapy used to treat cancer
Extended exposure to certain chemicals and toxins, such as arsenic, benzene, pesticides, and insecticides, may also increase your risk of developing aplastic anaemia[2][4]. Certain medicines, including chloramphenicol, carbamazepine, felbamate, phenytoin, quinine, and phenylbutazone, have also been associated with the condition, though the probability is very low[6][7].
Possible complications
People with aplastic anaemia may have the following complications, some of which may be life-threatening[2]:
- Anaemia
- Severe infections
- Excessive bleeding
- Arrhythmia (a problem with the rate or rhythm of your heartbeat) or heart failure[4]
- Myelodysplastic syndrome (a serious blood disorder)[2]
How is it diagnosed?
Healthcare providers diagnose aplastic anaemia by doing physical examinations, blood tests, and genetic tests[2].
Your doctor will review your medical history and ask you to describe your symptoms. Other questions may include whether you live or work in an area where you are exposed to toxic chemicals or radiation, what medications you take, whether you have had certain viral infections, and whether there is a family history of aplastic anaemia or other blood disorders[7].
- Complete blood count (CBC) with differential: This tests and measures your blood cells, including all five types of white blood cells. In aplastic anaemia, all three blood cell levels are low[8]
- Peripheral blood smear: Medical pathologists examine your blood cells and platelets under a microscope
- Reticulocyte count: This test counts the number of immature red blood cells
- Bone marrow biopsy: A needle is used to remove a small sample of bone marrow from a large bone, such as your hipbone. The sample is examined under a microscope. Normal bone marrow has 30–70% blood stem cells, but in aplastic anaemia, these cells are mostly gone and are replaced by fat[6][8]. Confirming a diagnosis of aplastic anaemia requires a bone marrow biopsy[8]
Treatment options
Treatments for aplastic anaemia depend on the symptoms and your age and overall health. Treatment options might include observation, blood transfusions, medicines, or bone marrow transplantation[8]. Severe aplastic anaemia, in which your blood cell counts are extremely low, is life-threatening and requires immediate hospitalization[8].
Advances in treatment, such as hematopoietic stem cell transplantation (HSCT) and triple immunosuppressive therapy (IST), have significantly improved survival outcomes, with rates exceeding 80%[3].
Blood transfusions
Although not a cure for aplastic anaemia, blood transfusions can provide blood cells your bone marrow isn’t producing. This can help control bleeding and relieve symptoms[8]. You might receive:
- Red blood cells: These raise red blood cell counts and help relieve anaemia and fatigue
- Platelets: These help prevent excessive bleeding
Medicines
Several types of medicines may be used to treat aplastic anaemia, including[10]:
- Immunosuppressants: These are drugs that lower the body’s immune response. Antithymocyte globulin (ATG) is typically used with cyclosporine as first-line immunosuppressive therapy[10]
- Androgens: These are natural male hormones that can cause your bone marrow to make more red blood cells[10]
- Antibiotics: These are used to treat or prevent infections, which are common when white blood cell counts are low[10]
Stem cell transplantation
This involves replacing your child’s bone marrow with healthy bone marrow from a donor. A stem cell transplantation is the only cure for aplastic anaemia[2][5].
Living with aplastic anaemia
During and between treatments, it’s important to prevent complications of aplastic anaemia caused by infections, bleeding, or extreme tiredness. This is very important when blood cell counts are low[14].
Safe nutrition
It’s important to eat a healthy diet. You may be at risk for foodborne illness. Because of this, you may need to avoid aged cheeses or unpasteurized milk or juices. You should not eat undercooked or raw foods. Make sure to cook all foods fully. Wash and peel fresh fruits and vegetables before serving. Don’t eat at salad bars or restaurant buffets[14]. If you have dietary questions, ask your healthcare provider for a referral to a registered dietitian for additional support[14].
Safe exercise
Regular exercise and playtime are important, and so is resting between activities. If you get short of breath when active, let your provider know. Because you may be at risk for bleeding, infection, and fatigue, contact sports are usually discouraged[14][17].
Preventing infection
Make sure to get a flu shot every year and ask your provider about other preventive vaccines. Stay away from crowds and sick friends or relatives, especially during cold and flu season. Wash your hands often. Regular dental care will help prevent tooth and gum infections. Stay out of public pools and hot tubs, especially if your skin has any open cuts or scrapes. Don’t let anyone smoke around you. This includes in your home and car[14].
Managing fatigue
Ongoing fatigue is a major issue in the lives of most bone marrow failure patients. A variety of factors contribute to this condition, and it’s important to recognize and address it[17]. Everyone who regularly exercises reaps the advantage of a more efficient metabolism, which effectively improves both body and mind. Always consult with your doctor before embarking on any exercise routine[17].
Emotional support
A serious and recurrent illness like aplastic anaemia is stressful. Make sure you get the support you need. Learn as much as you can about aplastic anaemia and work closely with your hematologist and treatment team[14][17].