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Understanding Acute Myeloid Leukemia (AML): Types, Symptoms and Risk Factors

Leukemia is a complicated family of cancers that affect the blood and bone marrow. Acute myeloid leukemia, or AML, is one of the most aggressive forms of the disease, characterized by the rapid production of abnormal white blood cells. It can be daunting to understand and manage, but knowledge is a powerful tool.

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The Basics of Acute Myeloid Leukemia

Starting from the ground up, understanding the basics of AML is crucial for everyone touched by this diagnosis. AML starts in the bone marrow, the soft, spongy tissue found in large bones. Normally, the bone marrow creates a small number of mature, healthy blood cells. In AML, the bone marrow produces a large number of abnormal myeloblasts, a type of white blood cell. These abnormal cells then flood the bloodstream, crowding out the healthy blood cells. The exact cause of this rapid growth is unclear, but genetic mutations play a significant role.

This hasty production of cancerous cells by the bone marrow leads to a range of health problems, including anemia, bleeding, and a compromised immune system. AML progresses rapidly and is typically fatal within weeks or months if not treated aggressively.

Types and Subtypes of AML

Like many forms of cancer, AML is not a one-size-fits-all diagnosis. There are several subtypes of AML, classified according to the type of cell they affect and the genetic abnormalities found within the cancer cells.

FAB Classification

One of the original classification systems for AML, the French-American-British (FAB) system, categorizes AML into eight subtypes based on the type of blood cell and its maturity. This system is still used but has been largely replaced by more advanced genetic testing to determine the specific subtype of AML.

WHO Classification

The World Health Organization (WHO) classification system has become the gold standard for diagnosing AML. This system divides AML into different subtypes based on the following factors:

  • The percentage of blast cells in the bone marrow and blood.
  • The presence of specific genetic mutations like the FLT3 gene.
  • The appearance of the cells under a microscope.
  • This classification is important because it can affect a patient's prognosis and treatment plan.

Cytogenetics

In AML, cytogenetic analysis is critical. This test looks at the number and structure of chromosomes within the leukemia cells. Some common abnormalities detected by cytogenetic analysis include:

Translocations: Parts of different chromosomes break off and trade places with each other.

Deletions: Sections of chromosomes are missing.

Additions: Extra pieces of chromosomes are present.

Patients with certain cytogenetic abnormalities have a higher likelihood of a good response to treatment, while others may have a poorer prognosis.

Signs and Symptoms of AML

Recognizing the signs of AML is vital because early detection can lead to more favorable outcomes. However, many of the symptoms are nonspecific and can mimic other diseases, which can make diagnosis challenging. Here are the most common symptoms of AML:

Fatigue: A feeling of tiredness or weakness despite adequate rest.

Shortness of breath: Difficulty breathing during physical activity or at rest.

Fever or chills: Often indicative of an infection due to weakened immunity.

Unexplained weight loss: A decrease in body weight not linked to diet or exercise.

Easy bruising or bleeding: Including frequent nosebleeds, bleeding gums, or heavy menstrual periods.

Frequent infections: A compromised immune system can make the body more susceptible to illness.

Bone pain: A dull, persistent ache in the bones, typically the back or the ribs.

Anyone experiencing these symptoms, especially in combination, should seek medical attention promptly for diagnosis and appropriate care.

Risk Factors for Acute Myeloid Leukemia

Knowing the risk factors for AML, some of which can be controlled, is empowering for those who may be at higher risk. Common risk factors include:

Age

AML is most common in adults, with a median age at diagnosis of 68 years. It's rare in children, accounting for only about 15% of pediatric leukemia cases. The risk of AML increases with age, with the highest rates found in adults over the age of 60.

Previous Chemotherapy or Radiation Therapy

Exposure to certain chemotherapeutic agents or high doses of radiation is a known risk factor for AML. This means that patients previously treated for another cancer may develop AML as a secondary cancer.

Genetic Disorders

Some genetic disorders, particularly those involving abnormalities in chromosomes 5, 7, or 8, can increase the risk of AML. Examples include Down syndrome and certain hereditary bone marrow failure syndromes.

Environmental Exposures

Exposure to certain environmental factors, such as benzene and formaldehyde, has been linked to an increased risk of AML. These chemicals are often found in industrial settings or tobacco smoke.

Smoking

Cigarette smoking is a significant risk factor for AML, with smokers being twice as likely to develop the disease compared to non-smokers.

Myelodysplastic Syndromes (MDS)

Myelodysplastic syndromes are a group of disorders in which the bone marrow does not produce enough healthy blood cells. Patients with MDS have an increased risk of developing AML, with about 20% of AML cases being secondary to MDS.

Understanding these risk factors can help individuals make informed decisions about their health and better prepare for potential AML diagnosis.

Diagnosing Acute Myeloid Leukemia

Diagnosing AML typically involves several steps to confirm the presence of the disease and determine its subtype:

Blood Tests

A complete blood count (CBC) is the first step, looking for abnormal levels of red and white blood cells and platelets. Leukemia cells in the blood, known as "blasts," are a key indicator of AML.

Bone Marrow Biopsy

During a bone marrow biopsy, a sample of bone marrow is taken from the hip bone and examined under a microscope to check for the presence of leukemia cells. This also helps determine the subtype of AML.

Cytogenetic Testing

Cytogenetic testing of the leukemia cells helps identify genetic abnormalities that may determine treatment options and prognosis.

Flow cytometry

Flow cytometry is a technology that provides rapid multi-parametric analysis of single cells in solution. Flow cytometers utilize lasers as light sources to produce both scattered and fluorescent light signals that are read by detectors such as photodiodes or photomultiplier tubes.

Lumbar Puncture

A lumbar puncture, also called a spinal tap, may be done to look for leukemia cells in the cerebrospinal fluid, especially if the patient has certain symptoms or risk factors.

Treatment Options for AML

Once diagnosed, AML is treated with a variety of options depending on the patient's age, health, subtype of AML, and other factors. Common treatment approaches include:

Chemotherapy

The main treatment for AML is chemotherapy, which aims to kill cancer cells or stop them from dividing. Chemotherapy may be given in different combinations and dosages depending on the subtype of AML.

Stem Cell Transplants

For younger patients with more aggressive forms of AML or those with high-risk cytogenetics, a stem cell transplant, also called a bone marrow transplant, may be considered. This involves replacing the diseased bone marrow with healthy marrow from a donor.

Targeted Therapies

Newer drugs known as targeted therapies attack specific targets within the leukemia cells. These treatments may have fewer side effects than traditional chemotherapy and can be effective, especially in combination with other treatments.

Managing symptoms and complications is an important part of AML treatment. This includes blood transfusions, antibiotics for infections, and medications to reduce pain and swelling.

Conclusion

The diagnosis of AML can be overwhelming, but there is hope. Advances in treatment and supportive care have improved survival rates in recent years. Patients with AML are encouraged to seek out support groups and resources to help manage the emotional and practical aspects of their disease. For Acute Myeloid Leukemia treatment in India, American Oncology Institute is recognized as the top multi-disciplinary oncology hospital known for its expertise and advanced care.