Acute myeloid leukaemia (AML) is a type of cancer that affects the blood and bone marrow. AML is not a single disease. It is the name given to a group of leukaemias that develop in the myeloid cell line in the bone marrow. Myeloid cells are red blood cells, platelets and all white blood cells excluding lymphocytes.
AML is characterised by an overproduction of immature white blood cells, called myeloblasts or leukaemic blasts. These cells crowd the bone marrow, preventing it from making normal blood cells. They can also spill out into the bloodstream and circulate around the body. Due to their immaturity they are unable to function properly to prevent or fight infection. Inadequate numbers of red cells and platelets being made by the marrow can cause anaemia, easy bleeding, and/or bruising.
You may hear other names for acute myeloid leukemia. Doctors may call it:
Acute myeloid leukemia (AML) can cause many different signs and symptoms. Some are more common with certain subtypes of AML.
People with AML often have several non-specific (general) symptoms. These can include:
These are not just symptoms of AML. More often they are caused by something other than leukemia.
Symptoms caused by low numbers of blood cells
Many signs and symptoms of AML are the result of a shortage of normal blood cells, which happens when the leukemia cells crowd out the normal blood-making cells in the bone marrow. As a result, people don’t have enough normal red blood cells, white blood cells, and blood platelets. These shortages show up on blood tests, and they can also cause symptoms.
Symptoms from low red blood cell counts (anemia)
Red blood cells carry oxygen to all of the cells in the body. A shortage of red blood cells can cause:
Symptoms from low white blood cell counts
Infections can occur because of a shortage of normal white blood cells (leukopenia), specifically a shortage of infection-fighting white blood cells called neutrophils (a condition called neutropenia). People with AML can get infections that don’t seem to go away or may get one infection after another. Fever often goes along with the infection.
Although people with AML can have high white blood cell counts due to excess numbers of leukemia cells, these cells don’t protect against infection the way normal white blood cells do.
Symptoms from low blood platelet counts
Platelets normally help stop bleeding. A shortage of blood platelets (called thrombocytopenia) can lead to:
Symptoms caused by high numbers of leukemia cells
The cancer cells in AML (called blasts) are bigger than normal white blood cells and have more trouble going through tiny blood vessels. If the blast count gets very high, these cells can clog up blood vessels and make it hard for normal red blood cells (and oxygen) to get to tissues. This is called leukostasis. Leukostasis is rare, but it is a medical emergency that needs to be treated right away. Some of the symptoms are like those seen with a stroke, and include:
When blood vessels in the lungs are affected, people can have shortness of breath. Blood vessels in the eye can be affected as well, leading to blurry vision or even loss of vision.
Bleeding and clotting problems
Patients with a certain type of AML called acute promyelocytic leukemia (APL) might have problems with bleeding and blood clotting. They might have a nosebleed that won’t stop, or a cut that won’t stop oozing. They might also have calf swelling from a blood clot called a deep vein thrombosis (DVT) or chest pain and shortness of breath from a blood clot in the lung (called a pulmonary embolism or PE).
Bone or joint pain
Some people with AML have bone pain or joint pain caused by the buildup of leukemia cells in these areas.
Swelling in the abdomen
Leukemia cells may build up in the liver and spleen, making them larger. This may be noticed as a fullness or swelling of the belly. The lower ribs usually cover these organs, but when they are enlarged the doctor can feel them.
Symptoms caused by leukemia spread
Spread to the skin: If leukemia cells spread to the skin, they can cause lumps or spots that may look like common rashes. A tumor-like collection of AML cells under the skin or other parts of the body is called a chloroma, granulocytic sarcoma, or myeloid sarcoma. Rarely, AML will first appear as a chloroma, with no leukemia cells in the bone marrow.
Spread to the gums: Certain types of AML may spread to the gums, causing swelling, pain, and bleeding.
Spread to other organs: Less often, leukemia cells can spread to other organs. Spread to the brain and spinal cord can cause symptoms such as:
On rare occasions AML can spread to the eyes, testicles, kidneys, or other organs.
Enlarged lymph nodes
Rarely, AML can spread to lymph nodes (bean-sized collections of immune cells throughout the body), making them bigger. Affected nodes in the neck, groin, underarm areas, or above the collarbone may be felt as lumps under the skin.
Although any of the symptoms and signs above may be caused by AML, they can also be caused by other conditions. Still, if you have any of these problems, especially if they don’t go away or are getting worse, it’s important to see a doctor so the cause can be found and treated, if needed.
Acute Myeloid leukemia is caused by damage to the DNA of developing cells in your bone marrow. When this happens, blood cell production goes wrong. The bone marrow produces immature cells that develop into leukemic white blood cells called myeloblasts. These abnormal cells are unable to function properly, and they can build up and crowd out healthy cells.
In most cases, it’s not clear what causes the DNA mutations that lead to leukemia. Radiation, exposure to certain chemicals and some chemotherapy drugs are known risk factors for acute myelogenous leukemia.
A risk factor is something that affects your chance of getting a disease, such as cancer. Different cancers have different risk factors. Some risk factors, like smoking, can be changed. Others, like a person’s age or family history, can’t be changed.
But having a risk factor, or even several risk factors, does not always mean that a person will get the disease, and many people get cancer without having any known risk factors.
There are some known risk factors for acute myeloid leukemia (AML).
Increasing age: The risk of acute myelogenous leukemia increases with age. Acute myelogenous leukemia is most common in adults age 65 and older.
Your sex: Men are more likely to develop acute myelogenous leukemia than are women.
Previous cancer treatment: People who’ve had certain types of chemotherapy and radiation therapy may have a greater risk of developing AML.
Exposure to radiation: People exposed to very high levels of radiation, such as survivors of a nuclear reactor accident, have an increased risk of developing AML.
Dangerous chemical exposure: Exposure to certain chemicals, such as benzene, is linked to a greater risk of AML.
Smoking: AML is linked to cigarette smoke, which contains benzene and other known cancer-causing chemicals.
Other blood disorders: People who’ve had another blood disorder, such as myelodysplasia, myelofibrosis, polycythemia vera or thrombocythemia, are at greater risk of developing AML.
Genetic disorders: Certain genetic disorders, such as Down syndrome, are associated with an increased risk of AML.
Many people with AML have no known risk factors, and many people who have risk factors never develop the cancer.
If you have signs or symptoms of acute Myeloid leukemia, your doctor may recommend that you undergo diagnostic tests, including:
Blood tests: Most people with acute Myeloid leukemia have too many white blood cells, not enough red blood cells and not enough platelets. The presence of blast cells — immature cells normally found in bone marrow but not circulating in the blood — is another indicator of acute myelogenous leukemia.
Bone marrow test: A blood test can suggest leukemia, but it usually takes a bone marrow test to confirm the diagnosis.
During a bone marrow biopsy, a needle is used to remove a sample of your bone marrow. Usually, the sample is taken from your hip bone (posterior iliac crest). The sample is sent to a laboratory for testing.
Lumbar puncture (spinal tap): In some cases, it may be necessary to remove some of the fluid around your spinal cord to check for leukemia cells. Your doctor can collect this fluid by inserting a small needle into the spinal canal in your lower back.
Genomic testing: Laboratory tests of your leukemia cells can identify specific genes, chromosome changes, and other issues unique to your leukemia, as well as to find genetic changes or mutations. This can help determine your prognosis and guide your treatment.
If your doctor suspects leukemia, you may be referred to a doctor who specializes in blood cancer (hematologist or medical oncologist).
Treatment of acute Myeloid leukemia depends on several factors, including the subtype of the disease, your age, your overall health and your preferences.
In general, treatment falls into two phases:
Remission induction therapy: You’ll get high doses of chemotherapy to destroy as many leukemia cells as possible. You may need to stay in the hospital for 3 to 5 weeks so your doctor can see how you’re doing and treat you for any side effects of chemotherapy. There are targeted therapy drugs as well.
After treatment, your bone marrow should start to make healthy blood cells. Your doctor will take a bone marrow sample to see if any leukemia cells are left in your blood. If no leukemia cells are visible, doctors call that being “in remission.” You’ll still need to go through post-remission therapy to help you stay in remission.
Post-remission therapy: Post-remission therapy uses more treatments to wipe out any cancer cells that might have been left behind after chemotherapy. You have three options:
Therapies used in these phases include:
Chemotherapy: Chemotherapy is the major form of remission induction therapy, though it can also be used for consolidation therapy. Chemotherapy uses chemicals to kill cancer cells in your body.
People with AML generally stay in the hospital during chemotherapy treatments because the drugs destroy many normal blood cells in the process of killing leukemia cells. If the first cycle of chemotherapy doesn’t cause remission, it can be repeated.
Targeted therapy: Targeted therapy uses drugs that attack specific vulnerabilities within your cancer cells. The drug midostaurin (Rydapt) stops the action of an enzyme within the leukemia cells and causes the cells to die. Midostaurin is only useful for people whose cancer cells have the FLT3 mutation. This drug is administered in pill form.
Other drug therapy: Arsenic trioxide (Trisenox) and all-trans retinoic acid (ATRA) are anti-cancer drugs that can be used alone or in combination with chemotherapy for remission induction of a certain subtype of AML called promyelocytic leukemia. These drugs cause leukemia cells with a specific gene mutation to mature and die, or to stop dividing.
Bone marrow transplant: A bone marrow transplant, also called a stem cell transplant, may be used for consolidation therapy. A bone marrow transplant helps re-establish healthy stem cells by replacing unhealthy bone marrow with leukemia-free stem cells that will regenerate healthy bone marrow.
Prior to a bone marrow transplant, you receive very high doses of chemotherapy or radiation therapy to destroy your leukemia-producing bone marrow. Then you receive infusions of stem cells from a compatible donor (allogeneic transplant).
You can also receive your own stem cells (autologous transplant) if you were previously in remission and had your healthy stem cells removed and stored for a future transplant.
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