Symptoms & Diagnosis

Acute Myeloid Leukemia Symptoms & Diagnosis

Many of the early signs of acute myeloid leukemia (AML) are similar to the flu or other common, less serious diseases. If you have symptoms of leukemia, your doctor will perform a thorough physical examination and talk to you about your medical history. 

AML Symptoms

Many signs and symptoms of AML can be attributed to a reduction in the number of normal blood cells in your body. Although most people who have the symptoms described below do not have AML, you should check with your doctor if you have any of these symptoms.

Symptoms from Low White Blood Cells

  • Flu-like symptoms, such as fever, sweats, and body aches
  • Infections from bacteria or viruses
  • Mouth inflammation, pain, or sores

Symptoms from Low Red Blood Cells

  • Shortness of breath
  • Pale skin
  • Fatigue, weakness, lack of energy, or sleepiness

Symptoms from Low Platelets

  • Bleeding from the gums
  • Red spots on the palate or ankles
  • Easy bruising or prolonged bleeding from cuts
  • Frequent or severe nosebleeds

Other General Symptoms

  • Loss of appetite
  • Unexplained weight loss
  • Pain or aches in the bones or joints
  • Swelling of the abdomen (may indicate an enlarged spleen)
  • Swollen lymph nodes in the neck, underarm, groin, or stomach
  • Headaches, dizziness
  • Vomiting

Diagnosing AML

An accurate diagnosis of AML requires several diagnostic tests. Any or all of the following tests may be used to diagnose leukemia.

Complete Blood Count (CBC) and Peripheral Blood Smear

A blood sample is examined for the number of red blood cells and platelets, the number and type of white blood cells, the amount of hemoglobin (protein that carries oxygen) in the red blood cells, the presence of blasts, and any changes in the shape of your blood cells. Essentially all people with AML will have an abnormality in their CBC.

Bone Marrow Aspiration and Biopsy

A leukemia diagnosis often cannot be made without looking at a sample of the bone marrow cells. In bone marrow aspiration and biopsy, samples of bone marrow and a small piece of bone are taken from the back of the pelvic bone using hollow needles. The samples are then examined under a microscope to see if leukemic cells are present. This short procedure can cause some brief pain at the biopsy site. But the information from the cytogenetic and molecular analyses of the bone marrow samples (described below) is vital to determine the best treatment for you. Additional bone marrow samples obtained after treatment begins are important to see how well treatment is working.

Cytogenetic Analysis

Under a microscope, blood or bone marrow cells are examined for changes in their chromosomes. Sometimes part of a chromosome is missing, or two chromosomes may have exchanged some of their DNA in what is known as a translocation. The cytogenetic profile is crucial in determining your treatment options and prognosis. It provides information that predicts how likely your disease is to respond to standard therapy.

Immunophenotyping (Flow Cytometry)

A sample of blood cells is examined through a sophisticated machine called a flow cytometer to see if leukemic cells are present and whether the disease is AML or acute lymphoblastic leukemia. Flow cytometry is also very useful in monitoring how your disease is responding to treatment.

Fluorescent in Situ Hybridization (FISH)

The fluorescent dyes used in this test attach to specific parts of certain chromosomes. FISH is very accurate, and many chromosomal abnormalities can be seen under a microscope using this technique. Information from the FISH analysis may supplement the information from cytogenetic analysis.

Polymerase Chain Reaction (PCR)

PCR is a very sensitive DNA replication technique that can be used to detect changes in the structure or function of genes. This test may be used to determine whether a person with AML has a certain chromosomal translocation, such as the PML-RARα fusion gene seen in acute promyelocytic leukemia, a subtype of AML. PCR testing is also useful in monitoring how your disease is responding to treatment.

Molecular Analysis

Even with the use of FISH, many people will still appear to have normal chromosomes. Recently the use of sophisticated tests has revealed that many such people have subtle genetic abnormalities. These often have great prognostic significance. For example, patients who seem to have normal chromosomes but who have an abnormality in the gene for FLT3 have much worse outcomes with standard treatment than patients with normal chromosomes who do not have the FLT3 abnormality.

Lumbar Puncture

A small needle is advanced into the spinal cavity in the lower back, and a small amount of cerebrospinal fluid (CSF) is withdrawn. The CSF is then examined for abnormal blood cells to determine whether the cancer has spread to the spinal cord and brain (central nervous system). Lumbar puncture is typically used in patients with symptoms such as headaches, mental changes, or double vision.

Imaging Tests

Imaging tests such as chest X-ray, computed tomography (CT) scan, magnetic resonance imaging (MRI) scan, or ultrasound may be performed to determine whether the leukemia is impacting other parts of your body. For example, a CT scan may be used to determine whether your spleen or lymph nodes are enlarged.

Blood Chemistry Tests

These tests measure the levels of certain substances in your body to determine whether your organs are functioning properly.

Other Biopsies

Sometimes leukemia can involve other parts of your body, such as the skin, testicle, or ovary. If your doctor thinks it will help with your treatment, you may undergo a biopsy of such a location if this is suspected.