Leukemia

Leukemia is a cancer of the blood and bone marrow, characterized by the abnormal production of white blood cells. These malignant cells crowd out healthy blood cells, impair normal blood function, and can spread to other parts of the body. Leukemia is classified into four main types based on how quickly it progresses (acute or chronic) and which type of white blood cell is affected (lymphocytic or myeloid). Acute leukemias progress rapidly and require immediate treatment, while chronic forms typically develop more slowly. The disease affects people of all ages, though certain types are more common in specific age groups. With advances in treatment, many people with leukemia now achieve remission or long-term control of their disease, with some types considered highly curable, particularly in children.

Causes

Genetic factors - Certain inherited conditions increase leukemia risk, including Down syndrome, Fanconi anemia, Bloom syndrome, and ataxia-telangiectasia
Chromosomal abnormalities - Specific mutations and translocations can trigger the development of leukemia, like the Philadelphia chromosome in CML
Previous cancer treatments - Chemotherapy and radiation therapy for other cancers increase the risk of developing treatment-related leukemia
Exposure to high levels of radiation - From sources such as atomic bomb blasts, nuclear accidents, or prolonged radiation therapy
Exposure to certain chemicals - Benzene (found in gasoline, cigarette smoke, and industrial settings) and certain pesticides have been linked to increased leukemia risk
Smoking - Increases risk of acute myeloid leukemia
Certain blood disorders - Myelodysplastic syndromes and some other blood disorders can progress to leukemia
Viral infections - Human T-cell leukemia virus type 1 (HTLV-1) is associated with a rare type of leukemia called adult T-cell leukemia/lymphoma
Family history - Having a first-degree relative with leukemia slightly increases risk
Age - Risk of most leukemias increases with age, though acute lymphoblastic leukemia is most common in children

Signs and Symptoms

Fatigue and weakness - Due to anemia (low red blood cell count)
Frequent infections - From decreased normal white blood cells
Easy bleeding or bruising - Due to low platelet counts
Fever or night sweats - Often recurring or persistent
Bone or joint pain - Caused by overcrowding of leukemia cells in bone marrow
Swollen lymph nodes - Particularly in the neck, armpits, or groin
Enlarged liver or spleen - May cause abdominal discomfort or fullness
Unexplained weight loss - Often significant and unintentional
Petechiae - Tiny red spots under the skin from bleeding
Excessive sweating - Particularly at night
Abdominal discomfort - From enlarged organs
Headaches - In cases where leukemia cells spread to the central nervous system
Symptoms vary widely depending on the type of leukemia and individual factors

Diagnosis

Blood Tests

Complete blood count (CBC) with differential examines the number, size, and maturity of different blood cells. Abnormal white blood cell counts or the presence of blast cells (immature blood cells) in the peripheral blood can suggest leukemia. Blood chemistry tests assess organ function, which may be affected by leukemia. Specialized tests like flow cytometry and immunophenotyping analyze specific markers on cell surfaces to help identify the type of leukemia.

Bone Marrow Examination

The definitive test for leukemia involves analyzing bone marrow, the spongy tissue inside bones where blood cells are produced. Bone marrow aspiration removes a liquid sample of cells, while bone marrow biopsy removes a small core of bone and marrow. These samples are examined for abnormal cells, percentage of blast cells, and specific genetic or molecular abnormalities. Usually performed under local anesthesia from the hip bone (iliac crest).

Cytogenetic Analysis

Examines chromosomes in leukemia cells to identify abnormalities like translocations (where parts of chromosomes exchange places), deletions, or additions. These findings help classify the leukemia, determine prognosis, and guide treatment decisions. Techniques include conventional karyotyping, fluorescence in situ hybridization (FISH), and spectral karyotyping.

Molecular Testing

Detects specific gene mutations, rearrangements, or expression patterns that can influence diagnosis, prognosis, and treatment options. Techniques include polymerase chain reaction (PCR), next-generation sequencing, and gene expression profiling. For example, testing for FLT3, NPM1, and CEBPA mutations in AML or BCR-ABL1 in CML helps guide therapy and monitor treatment response.

Lumbar Puncture

A sample of cerebrospinal fluid is collected and examined for leukemia cells, particularly in acute leukemias, which can spread to the central nervous system. Routinely performed in acute lymphoblastic leukemia (ALL) and sometimes in acute myeloid leukemia (AML).

Imaging Studies

While not used to diagnose leukemia directly, imaging can assess complications or the extent of disease. CT scans, MRI, or ultrasound may evaluate organ enlargement or lymph node involvement. Chest X-rays can detect infections or leukemic infiltration in the lungs. PET scans may be used in certain situations to evaluate disease activity.

Treatment Options

Chemotherapy

The primary treatment for most types of leukemia, using drugs to kill cancer cells. Approaches vary by leukemia type and patient factors. Induction therapy aims to achieve remission by rapidly reducing leukemia cells. Consolidation therapy follows remission to eliminate remaining leukemia cells. Maintenance therapy, used mainly in ALL and some CLL cases, involves lower-dose treatment over months or years to prevent relapse. Chemotherapy may be given orally, intravenously, or into the spinal fluid (intrathecal) to reach leukemia cells in the central nervous system.

Targeted Therapy

Drugs that attack specific vulnerabilities in leukemia cells while largely sparing normal cells. Tyrosine kinase inhibitors (TKIs) like imatinib have revolutionized CML treatment by targeting the BCR-ABL protein. FLT3 inhibitors benefit AML patients with FLT3 mutations. BCL-2 inhibitors like venetoclax are effective in certain AML and CLL cases. IDH inhibitors target specific mutations in AML. These targeted approaches often have fewer side effects than traditional chemotherapy and have dramatically improved outcomes for many leukemia types.

Immunotherapy

Treatments that harness the immune system to fight leukemia. Monoclonal antibodies target specific proteins on leukemia cells, either destroying them directly or delivering attached drugs or radiation. Bispecific T-cell engagers (BiTEs) connect leukemia cells to T cells, activating immune attack. Immune checkpoint inhibitors remove brakes on the immune response. CAR-T cell therapy, where a patient's T cells are engineered to target leukemia cells, has shown remarkable results in certain B-cell leukemias and lymphomas, particularly in children and young adults with refractory ALL.

Stem Cell Transplantation

Replaces diseased bone marrow with healthy stem cells. Allogeneic transplants use stem cells from a donor (ideally a matched sibling or unrelated donor) and may provide additional benefit through the "graft-versus-leukemia" effect. Autologous transplants use the patient's own stem cells, collected when the disease is in remission. Reduced-intensity or non-myeloablative transplants use lower doses of preparative chemotherapy, making the procedure available to older or less fit patients. Transplantation decisions consider leukemia type, genetic features, patient age, comorbidities, and response to initial therapy.

Radiation Therapy

Less commonly used in leukemia than in solid tumors but may be employed in specific situations. Total body irradiation may be part of the conditioning regimen before stem cell transplantation. Targeted radiation can address chloromas (solid leukemic tumors), central nervous system involvement, or symptomatic enlarged organs or lymph nodes. Radiation is sometimes used for symptom relief in palliative settings.

Supportive Care

Essential component of leukemia treatment addressing complications of both the disease and its therapy. Blood transfusions provide red blood cells for anemia and platelets for low platelet counts. Antimicrobials prevent or treat infections during periods of neutropenia (low white blood cell counts). Growth factors stimulate blood cell production, reducing duration of neutropenia. Pain management, nutritional support, and psychosocial services improve quality of life and treatment tolerance.

Home Remedies

Infection Prevention

Practice strict hand hygiene. Avoid crowds and people with contagious illnesses, especially during treatment periods when your immune system is compromised. Ensure proper food safety by thoroughly washing fruits and vegetables and cooking meats completely. Avoid raw or undercooked foods, including raw vegetables and fruits that cannot be peeled. Discuss with your healthcare team whether you should take special precautions with pets. Get recommended vaccinations (though live vaccines may be contraindicated during certain treatments).

Managing Fatigue

Plan activities for times when you typically have more energy. Prioritize important tasks and ask for help with others. Balance activity with rest periods but avoid becoming completely sedentary, as this can worsen fatigue. Light exercise, as approved by your healthcare team, can actually improve energy levels. Consider complementary approaches like gentle yoga, tai chi, or meditation to improve energy and reduce stress. Discuss persistent fatigue with your healthcare team, as it may be related to anemia or other treatable conditions.

Nutrition Support

Focus on a balanced diet rich in fruits, vegetables, whole grains, and lean proteins when able to eat normally. During periods of poor appetite, try smaller, more frequent meals rather than three large ones. Cold foods may be more appealing if you're experiencing taste changes or nausea. Stay well-hydrated by drinking plenty of fluids. If experiencing mouth sores, avoid spicy, acidic, or rough-textured foods. Work with a dietitian specializing in oncology nutrition for personalized advice, especially if experiencing significant weight loss or specific treatment-related eating challenges.

Bleeding Precautions

Use a soft toothbrush and avoid dental floss when platelet counts are very low. Avoid activities with high risk of injury. Use an electric razor rather than a blade for shaving. Apply pressure to cuts for longer than usual. Avoid medications that increase bleeding risk, like aspirin and NSAIDs, unless specifically approved by your oncologist. Know the warning signs of serious bleeding that require immediate medical attention, including prolonged nosebleeds, blood in urine or stool, and unusual bruising.

Emotional Wellbeing

Connect with others through support groups specifically for leukemia patients, either in-person or online. Communicate openly with loved ones about your needs and feelings. Consider professional counseling or therapy if experiencing persistent anxiety, depression, or difficulty coping. Practice stress reduction techniques such as deep breathing, progressive muscle relaxation, guided imagery, or meditation. Maintaining a sense of normalcy through continuing enjoyable activities when possible can improve quality of life during treatment.

Preventive Care

Avoid exposure to benzene and other known carcinogens in environmental and occupational settings
If you work in an industry with exposure to chemicals, follow all safety regulations and use protective equipment
Avoid smoking and secondhand smoke exposure, as smoking increases risk of acute myeloid leukemia
Limit radiation exposure from medical imaging tests when possible, discussing risks and benefits with your healthcare provider
If you've had chemotherapy or radiation for another cancer, attend all recommended follow-up appointments for monitoring
Maintain a healthy lifestyle with regular physical activity, balanced nutrition, and weight management
If you have a family history of leukemia or genetic syndromes associated with increased risk, consider genetic counseling
Be aware of leukemia symptoms and seek prompt medical attention for unexplained fatigue, frequent infections, easy bruising, or other concerning symptoms
For parents: limit children's exposure to pesticides and insecticides, which have been associated with increased childhood leukemia risk in some studies
No proven strategies exist to completely prevent leukemia, but these measures may reduce risk

Surgical Options

Central Venous Catheter Placement

While not a treatment for leukemia itself, surgical placement of a central venous catheter (CVC) or port is commonly performed to facilitate treatment. These devices provide reliable venous access for chemotherapy administration, blood draws, and other intravenous treatments. Options include tunneled catheters (Hickman/Broviac), implanted ports, and peripherally inserted central catheters (PICCs). The choice depends on expected duration of treatment, patient preference, and other factors. The procedure is typically performed under local anesthesia with sedation.

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Splenectomy

Surgical removal of the spleen is occasionally performed in certain leukemia cases, particularly chronic lymphocytic leukemia (CLL) or hairy cell leukemia, when the spleen is significantly enlarged and causing symptoms like pain, early satiety, or hypersplenism (excessive destruction of blood cells). The procedure may be done through traditional open surgery or laparoscopically. Following splenectomy, patients need specific vaccinations and lifelong vigilance regarding infections due to the spleen's role in immune function.

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Diagnostic Surgical Procedures

In some cases, minor surgical procedures may be needed for diagnosis. Lymph node biopsy may be performed if lymph node enlargement is a prominent feature. Rarely, a liver biopsy might be needed if there is unexplained liver dysfunction or suspected infiltration. These procedures are typically performed under local anesthesia, often using ultrasound or CT guidance.

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Surgical Management of Complications

Surgery may occasionally be needed to address complications of leukemia or its treatment. This might include management of infections, bleeding complications, or organ dysfunction. The specific procedures depend on the particular complication. For example, surgical drainage might be required for an abscess, or emergency surgery might be needed for acute abdominal complications.

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Ommaya Reservoir Placement

In cases where leukemia has spread to the central nervous system or there is high risk of CNS involvement, an Ommaya reservoir may be placed. This is a surgically implanted catheter system that allows repeated access to cerebrospinal fluid and direct administration of chemotherapy into the CNS, avoiding multiple lumbar punctures. The procedure is performed by a neurosurgeon, typically under general anesthesia.

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