Acute Myeloid Leukemia (AML) - Early Signs, Risk Factors, Diagnosis, and Treatment Explained

Acute Myeloid Leukemia (AML) is an aggressive type of blood cancer that starts in the bone marrow and affects the production of healthy blood cells. Because it develops quickly, early recognition and treatment are important. This guide provides clear and reliable information about AML—its symptoms, how it is diagnosed, available treatment options, and what patients and families can expect. Understanding the condition can help you feel more prepared and supported as you navigate the steps ahead.

What Is Acute Myeloid Leukemia (AML)?

Acute myeloid leukemia (AML) is a fast-growing cancer that starts in the blood-forming cells in the bone marrow. Bone marrow is the soft, spongy tissue inside your bones where all blood cells—red blood cells, white blood cells, and platelets—are made. In AML, the bone marrow produces a large number of abnormal, immature white blood cells called myeloblasts or blasts.

These abnormal cells do not mature into healthy, functioning blood cells. They build up in the bone marrow and prevent normal blood cells from being made, leading to a shortage of red blood cells (anemia), a shortage of normal white blood cells (which fight infection), and a shortage of platelets (which help blood clot). This can lead to a variety of serious health problems, which often develop over a period of days or weeks. Because of its rapid progression, AML requires immediate and aggressive treatment.

AML is the most common type of acute leukemia in adults, though it can also occur in children. While it is a serious condition, advances in treatment, especially with the use of targeted therapies, have dramatically improved the outlook for many patients.

Types of Acute Myeloid Leukemia (AML)

AML is not a single disease. It is a diverse group of cancers with many subtypes. These subtypes are classified based on what the cancer cells look like under a microscope and, most importantly, on their specific genetic and chromosomal changes. This is a critical step because these molecular findings help doctors predict the disease's behavior and choose the best course of treatment.

The World Health Organization (WHO) and other international consensus groups have a detailed classification system for AML, which includes:

• AML with Recurrent Genetic Abnormalities: These subtypes are defined by specific chromosomal changes or gene mutations. For example, AML with a specific translocation between chromosomes 8 and 21 (t(8;21)) generally has a better prognosis. Another subtype, Acute Promyelocytic Leukemia (APL), is defined by a specific translocation (t(15;17)) and is treated very differently from other types of AML, often with highly successful outcomes.
• AML with Myelodysplasia-Related Changes: This subtype occurs in patients who previously had a bone marrow disorder called a myelodysplastic syndrome (MDS).
• Therapy-Related AML: This type of AML is a complication that can arise years after a patient has been treated for another cancer with certain chemotherapy drugs or radiation.
• AML Not Otherwise Specified: This category includes subtypes that don't fit into the other groups. They are classified based on the type of normal blood cell they most closely resemble, such as monocytic leukemia or megakaryocytic leukemia.

Doctors use genetic tests to find the exact type of AML. This helps in choosing the best treatment plan.

What Are the Causes and Risk Factors for Acute Myeloid Leukemia (AML)?

The exact cause of AML is still unknown in most cases. It is not caused by a single factor but is thought to result from DNA damage to the blood-forming cells. This damage leads to genetic mutations that cause the cells to grow and divide uncontrollably.

Key Risk Factors:

• Smoking: This is the only proven lifestyle-related risk factor for AML. Cancer-causing chemicals in cigarette smoke, such as benzene, are absorbed into the lungs and can spread through the bloodstream to the bone marrow, damaging cells and increasing the risk of leukemia.
• Previous Chemotherapy or Radiation Therapy: People who have been treated for another cancer with certain chemotherapy drugs (such as alkylating agents) or high-dose radiation are at a higher risk of developing AML years later.
• Chemical Exposure: Long-term, high-level exposure to industrial chemicals like benzene is a known risk factor for AML. Benzene is found in gasoline, rubber, and some cleaning products.
• Blood Disorders: People who have certain chronic blood disorders, such as myelodysplastic syndromes (MDS) or other myeloproliferative disorders, are at a higher risk of AML.
• Genetic Syndromes: A small number of people are born with certain genetic conditions that increase their risk of developing AML. These include Down syndrome and Fanconi anemia.
• Age: The risk of developing AML increases with age, with most cases occurring in people over the age of 60.
• Gender: AML is slightly more common in men than in women.

What Are the Symptoms of Acute Myeloid Leukemia (AML)?

The symptoms of AML often develop quickly, over a period of days or weeks. They are a direct result of the shortage of healthy blood cells. It is crucial to see a doctor promptly if you experience any of these symptoms.

Common Early Signs:

• Fatigue and Weakness: The most common symptom, caused by anemia (a low red blood cell count). You may feel tired, weak, and short of breath after minimal exertion.
• Frequent Infections: A shortage of healthy white blood cells makes it difficult for your body to fight off infections. You may have frequent fevers, sore throats, or skin infections that are hard to get rid of.
• Easy Bruising or Bleeding: This is caused by a low platelet count. You may notice unexplained bruises, frequent nosebleeds, or bleeding gums.
• Pale Skin (Pallor): A lack of red blood cells can make your skin look pale or "washed out."
• Bone or Joint Pain: Leukemia cells can build up in the bone marrow, causing a deep, aching pain in the bones and joints.
• Fever and Night Sweats: A persistent, unexplained fever and drenching night sweats.

These symptoms can be similar to many other conditions, which is why medical tests are important.

Advanced Symptoms:

As the cancer progresses, other symptoms may appear:

• Swollen Gums: Some types of AML can cause the gums to swell and bleed.
• Swollen Lymph Nodes: You may have painless, swollen lymph nodes in your neck, armpit, or groin.
• A Feeling of Fullness: An enlarged spleen or liver, where leukemia cells can collect, may cause a feeling of fullness or discomfort in your abdomen.
• Neurological Symptoms: In rare cases where leukemia cells have spread to the brain and spinal cord, it can cause headaches, vision problems, or seizures.

If you are at high risk for AML (e.g., a history of smoking or previous cancer treatment) and experience any of these symptoms, it is crucial to consult a doctor right away for an accurate diagnosis.

How Is Acute Myeloid Leukemia (AML) Diagnosed?

A diagnosis of AML requires a series of tests to confirm the presence of cancer, determine its specific type, and assess how far it has spread. Because of its fast-growing nature, the diagnostic process is often expedited.

Diagnostic Steps and Tests:

1. Physical Exam and Blood Tests: The diagnosis often begins with a physical exam and a simple blood test called a complete blood count (CBC). A CBC can show abnormal levels of red blood cells, white blood cells, or platelets. It may also show the presence of immature leukemia cells (blasts) in the blood.
2. Bone Marrow Aspiration and Biopsy: This is the most definitive test for AML. A small sample of both liquid and solid bone marrow is removed, typically from the hip bone, and sent to a lab for examination. This test helps doctors confirm the diagnosis, determine the specific subtype of AML, and look for any genetic changes in the cancer cells.
3. Cytogenetic and Molecular Tests: These specialized tests are performed on the bone marrow or blood sample to look for specific changes in the chromosomes or genes of the leukemia cells. For example, doctors will test for the presence of the FLT3, IDH1/IDH2, or NPM1 genes, as these findings are crucial for guiding treatment and can make a patient a candidate for targeted therapy.
4. Lumbar Puncture (Spinal Tap): If there is a concern that the leukemia has spread to the central nervous system (brain and spinal cord), a doctor may perform a spinal tap to check for leukemia cells in the cerebrospinal fluid.
5. Imaging Tests: Imaging scans like a CT or PET scan may be used to check if the cancer has spread to other organs.

Staging and Grading of Acute Myeloid Leukemia (AML)

AML is not staged in the same way as solid tumors (like breast or lung cancer) because it is a blood cancer that is already "systemic" (throughout the body) at the time of diagnosis. Instead of a numbered staging system, doctors classify AML based on its subtype and genetic features, which helps them determine the "risk group" (favorable, intermediate, or adverse). This risk stratification is crucial for deciding on the intensity of treatment.

Grading: AML is not typically graded like other cancers. The main distinction between "acute" (immature cells) and "chronic" (more mature cells) is the key factor that determines the aggressiveness and speed of the disease.

What Are the Treatment Options for Acute Myeloid Leukemia (AML)?

The treatment for AML is highly personalized and depends on the specific subtype, the patient's age, and overall health. Because AML is so fast-growing, treatment must begin as soon as the diagnosis is confirmed.

Medical Treatment (Chemotherapy, Targeted Therapy, Immunotherapy)

1. Chemotherapy: Chemotherapy is the primary treatment for most types of AML. It is a highly intensive treatment that aims to destroy the leukemia cells in the bone marrow and blood. Treatment is typically divided into two phases:

• Induction Chemotherapy: The goal of this phase is to kill most of the leukemia cells and induce remission. This is a very intense treatment that often requires a hospital stay of a month or more.
• Consolidation Chemotherapy: The goal of this phase is to kill any remaining cancer cells to prevent the cancer from coming back.

2. Targeted Therapy: This is a major advance in AML treatment. These drugs are designed to target specific genetic abnormalities in the leukemia cells. For example, if a patient has a mutation in the FLT3 or IDH1/IDH2 genes, a specific targeted therapy drug can be used in combination with chemotherapy to improve outcomes.

3. Stem Cell Transplant (Bone Marrow Transplant): A stem cell transplant is a potentially curative treatment for some types of AML. It involves destroying the patient's bone marrow with high-dose chemotherapy and then replacing it with healthy, blood-forming stem cells from a donor. This is often recommended for patients with high-risk AML or for those whose cancer has returned after initial treatment.

4. Immunotherapy: Immunotherapy helps a patient's own immune system recognize and attack cancer cells. While its role in AML is still evolving, it is an important area of research and is being used in some cases to treat relapsed or refractory AML.

2. Radiation Therapy

Radiation therapy uses high-energy rays to kill cancer cells. It is not a common primary treatment for AML but may be used in specific cases:

• To prepare the body for a stem cell transplant.
• To treat leukemia that has spread to the central nervous system (brain and spinal cord).

3. Surgery

Surgery is not used as a treatment for AML because it is a blood cancer that is already throughout the body.

Prognosis and Survival Rates for Acute Myeloid Leukemia (AML)

The prognosis (the likely outcome of the disease) for AML has been steadily improving. The outlook depends on the specific subtype of AML, the patient's age and overall health, and how well the cancer responds to treatment.

Prognostic Factors: The most important factors affecting prognosis are the specific genetic abnormalities in the cancer cells, the patient's age and health, and whether the cancer responds to initial chemotherapy.

Survival Rates: Many patients, especially younger ones and those with favorable genetic findings, now have very good outcomes with modern treatments.

• For patients under 60, the 5-year survival rate is around 40%.
• For patients with favorable genetic features, the prognosis is much better, with some subtypes having a 5-year survival rate of over 70%.

It is important to discuss your specific prognosis with your hematologist (a doctor who specializes in blood diseases), as they can provide a more accurate picture based on your individual case.

Screening and Prevention of Acute Myeloid Leukemia (AML)

There are no routine screening tests for AML in the general population. The best way to reduce your risk is to avoid known risk factors.

Prevention Strategies:

• Do Not Smoke: The single most important way to reduce your risk of AML is to quit smoking.
• Avoid Chemical Exposure: Minimize your exposure to known chemicals like benzene.
• Know Your Symptoms: If you have a family history or other risk factors, pay close attention to the symptoms listed above and see a doctor promptly.

For International Patients: Your Seamless Journey to Apollo Hospitals

Apollo Hospitals is a leading medical destination for international patients seeking high-quality and affordable cancer care. Our dedicated International Patient Services team is here to ensure your entire experience is as smooth and comfortable as possible, from your initial inquiry to your return home. We have extensive experience treating patients with AML from around the world.

Our Services for International Patients Include:

• Travel and Visa Assistance: We will provide you with a visa invitation letter and help with travel arrangements.
• Airport Transfers: We will arrange for a car to pick you up from the airport.
• Personalized Care: A dedicated patient coordinator will be your single point of contact, assisting with hospital admission, language interpretation, and any other needs you may have.
• Accommodation: We can assist you with booking suitable accommodation for you and your family near the hospital.
• Post-Treatment Follow-up: We will stay in touch with you after your return home to ensure a smooth recovery.

Frequently Asked Questions (FAQs) About Acute Myeloid Leukemia (AML)

Q1: Is AML curable?

A: Yes, AML is curable, especially in younger patients with favorable genetic features. A stem cell transplant offers the best chance for a cure for many patients.

Q2: What is the survival rate for AML?

A: The survival rate for AML varies significantly by age and genetic subtype. The overall 5-year survival rate is around 32%, but this number can be much higher for younger patients with favorable genetic markers. Your doctor can provide a more accurate prognosis based on your specific case.

Q3: What are the side effects of AML treatment?

A: Side effects vary with the type of treatment. Chemotherapy can cause fatigue, nausea, hair loss, and a weakened immune system. A stem cell transplant can have more significant side effects, including a high risk of infection. Your medical team will work closely with you to manage these side effects.

Q4: Can AML come back (recurrence)?

A: Yes, there is a risk of recurrence. This is why a consolidation phase of treatment is so important. Regular follow-up appointments and continued monitoring are crucial for early detection of any relapse.

Q5: What is the typical recovery time after AML treatment?

A: Recovery from initial induction chemotherapy can take a month or more, as the body needs time to rebuild its healthy blood cells. The recovery time from a stem cell transplant is much longer, often taking several months or more. Your medical team will provide a detailed recovery plan.

Q6: Is AML hereditary?

A: In most cases, AML is not hereditary. However, a family history or certain rare inherited genetic syndromes can increase a person's risk.