Table of Contents

Acute Lymphoblastic Leukaemia (ALL)

What is Acute Lymphoblastic Leukaemia?

Acute lymphoblastic leukaemia (ALL) is a type of cancer affecting the white blood cells, specifically the lymphocytes, which are essential for fighting infections. The term “acute” indicates that the condition progresses rapidly and requires immediate treatment. ALL primarily involves the uncontrolled production of immature white blood cells in the bone marrow.

Types of Acute Leukaemia

Leukaemia is classified based on the type of white blood cells affected. The two main categories are:

Lymphocytes: These cells play a crucial role in defending the body against viral infections.
Neutrophils: These cells fight bacterial infections, protect against parasites, and prevent the spread of tissue damage.

This article focuses on acute lymphoblastic leukaemia (ALL). Other types of leukaemia include:

Chronic lymphocytic leukaemia (CLL)
Chronic myeloid leukaemia (CML)
Acute myeloid leukaemia (AML)

Symptoms of Acute Lymphoblastic Leukaemia

Symptoms of ALL typically develop slowly before worsening rapidly as the number of immature white blood cells increases. Early symptoms may include:

Pale skin: Reduced red blood cells can lead to anaemia, causing paleness.
Fatigue: Persistent tiredness and lack of energy due to decreased oxygen-carrying red blood cells.
Breathlessness: A result of anaemia and decreased oxygen supply.
Frequent infections: Immature white blood cells are less effective at fighting infections, leading to repeated illnesses.
Unusual bleeding and bruising: Reduced platelet count increases the risk of excessive bleeding and bruising.

It’s important to seek medical attention if you or a loved one experience these symptoms.

Understanding Acute Lymphoblastic Leukaemia

Bone Marrow and Blood Cell Production

Bone marrow is a spongy tissue inside bones responsible for producing blood cells. Stem cells within the bone marrow develop into three primary types of blood cells:

Red Blood Cells (RBCs): Carry oxygen throughout the body.
White Blood Cells (WBCs): Fight infections.
Platelets: Help stop bleeding by clotting.

In acute leukaemia, the bone marrow releases large quantities of immature white blood cells, called blast cells, into the bloodstream before they can mature. This leads to:

Drop in Red Blood Cells: Causing symptoms of anaemia, such as fatigue and pale skin.
Reduction in Platelets: Increasing the risk of excessive bleeding.
Decreased Immunity: Immature blast cells are less effective at fighting infections, making the body more susceptible to bacterial and viral infections.

Causes and Risk Factors

The exact cause of acute lymphoblastic leukaemia remains unclear, but several risk factors are associated with its development:

Radiation Exposure: High levels of radiation exposure increase the risk of ALL.
Chemical Exposure: Contact with chemicals such as benzene, used in manufacturing and found in cigarette smoke, can raise the likelihood of developing ALL.
Genetic Predisposition: Certain genetic conditions and a family history of leukaemia may contribute to the risk.

Diagnosis of Acute Lymphoblastic Leukaemia

Diagnosing ALL involves several tests and procedures, including:

Physical Examination: Assessment of symptoms like pale skin, swollen lymph nodes, and an enlarged spleen.
Blood Tests: Analysis to detect abnormal white blood cell counts and blast cells.
Bone Marrow Biopsy: Examination of bone marrow samples to confirm the presence of leukaemia cells.
Imaging Tests: CT scans, X-rays, and ultrasounds may be used to assess organ involvement.

Treatment of Acute Lymphoblastic Leukaemia

ALL requires urgent and aggressive treatment. The primary treatment options include:

1. Chemotherapy

Chemotherapy is the main treatment for ALL and involves using drugs to kill cancer cells.
It is typically administered in phases: induction, consolidation, and maintenance therapy to eliminate leukaemia cells and prevent relapse.

2. Radiation Therapy

Radiation may be used in specific cases to destroy cancer cells, particularly if leukaemia has spread to the central nervous system (CNS).

3. Targeted Therapy

Targeted drugs attack specific proteins or markers on leukaemia cells, minimizing damage to healthy cells.

4. Stem Cell Transplant

This procedure involves replacing diseased bone marrow with healthy stem cells, typically following high-dose chemotherapy.

Prognosis and Living with Acute Lymphoblastic Leukaemia

ALL is the most common type of cancer affecting children but can occur at any age. With advancements in treatment, many patients achieve remission or cure. The prognosis depends on several factors, including the patient’s age, overall health, and response to treatment.

Coping and Support

A diagnosis of ALL can be overwhelming. Support groups, counseling, and educational resources are available to help patients and their families navigate the challenges associated with the condition.

Symptoms of Acute Lymphoblastic Leukaemia (ALL)

Acute lymphoblastic leukaemia (ALL) is a type of cancer that affects the white blood cells, causing a rapid increase in immature white blood cells known as blast cells. These blast cells accumulate in the bone marrow and bloodstream, leading to a deficiency in healthy blood cells. This deficiency is responsible for many of the symptoms experienced by individuals with ALL.

Early Symptoms of Acute Lymphoblastic Leukaemia

Symptoms of ALL often begin gradually before becoming severe. This is due to the rapid increase in blast cells, which disrupts the normal functioning of red blood cells, white blood cells, and platelets. Key symptoms include:

Pale Skin: Due to a lack of red blood cells (anaemia).
Fatigue and Breathlessness: Resulting from reduced oxygen-carrying capacity in the blood.
Frequent Infections: A high number of immature white blood cells (blast cells) means fewer mature, functional white blood cells, making the body more vulnerable to infections.
Unusual and Frequent Bleeding: Such as bleeding gums, nosebleeds, and easy bruising due to a reduced number of platelets.
Fever (38°C / 100.4°F or Above): Indicative of infection or the body’s response to cancer.
Night Sweats: A common symptom in many blood-related cancers.
Bone and Joint Pain: Caused by overcrowding of cells in the bone marrow.
Easily Bruised Skin: Due to low platelet counts, making blood clotting more difficult.
Swollen Lymph Nodes (Glands): Particularly around the neck, underarms, or groin.
Abdominal Pain: Caused by a swollen liver or spleen.
Unexplained Weight Loss: A common cancer-related symptom.
Purple Skin Rash (Purpura): Caused by bleeding under the skin.

Neurological Symptoms

In some cases, the leukaemic cells can spread from the bloodstream into the central nervous system (CNS), leading to neurological symptoms, which may include:

Headaches.
Seizures (Fits).
Vomiting.
Blurred Vision.
Dizziness.

When to Seek Medical Advice

It’s important to note that while these symptoms can be indicative of acute lymphoblastic leukaemia, they are also common to a variety of less serious conditions. However, if you or your child experience some or all of these symptoms, it is crucial to see a GP as soon as possible. Prompt medical evaluation is necessary to rule out serious causes and begin treatment if needed.

Understanding the Symptoms

The symptoms of ALL occur due to the overproduction of blast cells in the bone marrow, which interferes with the production of normal, healthy blood cells. This leads to:

Anaemia: Low red blood cell count causes fatigue, breathlessness, and pale skin.
Increased Risk of Infection: Immature white blood cells crowd out normal white blood cells, reducing the immune system’s ability to fight infections.
Bleeding and Bruising: Low platelet levels lead to easy bruising and bleeding.

Causes of Acute Lymphoblastic Leukaemia (ALL)

Acute lymphoblastic leukaemia (ALL) is a type of cancer that affects the white blood cells. It occurs when a DNA mutation in the stem cells of the bone marrow causes the production of excessive and immature white blood cells. These cells, known as blast cells, are released into the bloodstream before they are fully developed, compromising their ability to fight infections effectively.

As the number of immature white blood cells increases, the production of healthy red blood cells and platelets decreases. This imbalance is responsible for many of the symptoms of acute leukaemia, such as anaemia, increased risk of infections, and excessive bleeding.

What Causes the DNA Mutation?

The exact cause of the DNA mutation leading to ALL is not fully understood. However, there are several risk factors that may increase the likelihood of developing the condition.

Key Risk Factors for Acute Lymphoblastic Leukaemia

1. Genetic Disorders

Some cases of childhood acute lymphoblastic leukaemia are linked to genetic disorders. For example, children with Down’s syndrome have a higher risk of developing leukaemia. Other genetic conditions may also play a role in increasing susceptibility.

2. Radiation Exposure

Exposure to high levels of radiation is a known risk factor for ALL. This includes:

Radiation exposure before birth: Medical procedures involving radiation, such as X-rays, are rarely performed on pregnant women due to potential risks to the unborn baby.
Nuclear accidents: Events like the Chernobyl nuclear reactor accident released significant radiation levels, leading to increased cases of leukaemia among those exposed.

However, it is important to note that most cases of childhood leukaemia occur in children without a history of genetic disorders or radiation exposure.

3. Possible Environmental Factors

Extensive research has been conducted to determine whether certain environmental factors could contribute to the risk of developing ALL. Some areas of study include:

Living near a nuclear power station.
Proximity to power lines.
Living near facilities that emit electromagnetic radiation, such as mobile phone masts.

Currently, there is no conclusive evidence linking these factors to an increased risk of leukaemia.

4. Benzene Exposure

Exposure to the chemical benzene is a recognized risk factor for adult acute leukaemia. Benzene is found in:

Petrol.
Rubber industry products.

Strict regulations are in place to limit benzene exposure. Benzene is also found in cigarettes, which may explain why smokers are approximately three times more likely to develop acute leukaemia compared to non-smokers. Additionally, people who have undergone chemotherapy or radiotherapy for unrelated cancers may face a higher risk of developing leukaemia.

5. Other Risk Factors

Additional factors that may increase the risk of acute lymphoblastic leukaemia include:

Obesity: There is some evidence linking obesity to a higher risk of ALL.
Weakened Immune System: Conditions such as HIV/AIDS or the use of immunosuppressants following an organ transplant can increase the risk.

Summary

While many factors can contribute to the development of acute lymphoblastic leukaemia, it often occurs without a clear cause. Genetic predisposition, exposure to radiation, environmental factors, and chemical exposure are all areas of active research and known risk factors.

Diagnosing Acute Lymphoblastic Leukaemia (ALL)

Early diagnosis of acute lymphoblastic leukaemia (ALL) is crucial for effective treatment. The process begins with a thorough examination by your GP and involves multiple tests to confirm the diagnosis, assess the progression, and guide treatment options.

Initial Examination and Blood Tests

The diagnostic journey typically starts with:

Physical Examination
Your GP will check for physical signs of ALL, such as swollen lymph nodes, unexplained bruising, or pale skin. If symptoms indicate a potential issue, a blood sample will be taken for testing.
Blood Sample Analysis
A high number of abnormal white blood cells in the blood sample may suggest acute leukaemia. If this is detected, you will be referred to a haematologist—a specialist in blood conditions—for further evaluation.

Confirmatory Testing: Bone Marrow Biopsy

To confirm a diagnosis of acute leukaemia, a bone marrow biopsy is usually performed by a haematologist:

Procedure Overview
A local anaesthetic is used to numb the skin, typically over the hip bone, before a needle is used to extract a small sample of bone marrow. This procedure takes about 15 minutes. Although you may experience some pain, bruising, and discomfort for a few days, hospital stays are not typically required.
Purpose
The bone marrow sample is examined under a microscope to detect cancerous cells and determine the type of acute leukaemia present.

Additional Diagnostic Tests

Further tests may be conducted to gather more information on the progression, extent, and specific characteristics of ALL. These tests can also guide the most appropriate treatment options.

1. Cytogenetic Testing

What it Involves: Identifies the genetic makeup of cancerous cells.
Purpose: Certain genetic variations in leukaemia cells can significantly influence treatment approaches and outcomes.

2. Immunophenotyping

Description: This test identifies the exact type of acute lymphoblastic leukaemia by analyzing a blood, bone marrow, or fluid sample.
Importance: Different types of ALL may require slightly different treatment plans.

3. Polymerase Chain Reaction (PCR) Testing

What it Does: Uses a blood sample to detect specific genetic markers associated with ALL.
Usage: Frequently used to diagnose and monitor treatment response. Tests are repeated every three months for at least two years and less frequently after achieving remission.

4. Lymph Node Biopsy

Purpose: Conducted if enlarged lymph nodes are detected, helping to determine the spread of leukaemia.

5. CT Scans (Computerised Tomography)

Function: Provides detailed images to assess the health of organs, including the heart and lungs.

6. Chest X-Ray

Objective: Checks for swollen lymph nodes in the chest area.

7. Lumbar Puncture

Description: A needle is used under local anaesthetic to extract cerebrospinal fluid from the spine.
Purpose: Determines if ALL has spread to the central nervous system (CNS).

Why Accurate Diagnosis Matters

Accurate diagnosis of acute lymphoblastic leukaemia is critical to formulating an effective treatment plan. Early and precise identification of the condition allows healthcare professionals to choose the best course of therapy, improving the chances of successful treatment and remission.

Treating Acute Lymphoblastic Leukaemia (ALL)

Treatment for acute lymphoblastic leukaemia (ALL) typically starts within a few days of diagnosis due to the aggressive nature of the disease. The goal of treatment is to eliminate cancerous cells, restore healthy blood cell levels, and prevent the return of leukaemia.

Stages of ALL Treatment

The treatment process for ALL involves three primary stages:

Induction
The initial phase aims to destroy leukaemia cells in the bone marrow, restore the balance of blood cells, and alleviate symptoms.
Consolidation
This phase focuses on eliminating any remaining leukaemia cells, particularly those in the central nervous system (CNS).
Maintenance
The final stage involves taking regular doses of chemotherapy tablets to prevent leukaemia from recurring. This stage is specific to treating ALL and is generally not used for acute myeloid leukaemia (AML).

Detailed Treatment Approaches

1. Induction Therapy

Induction therapy is carried out in a hospital or specialist centre due to the complexity of the treatment and the need for close monitoring.

Blood Transfusions
Since leukaemia reduces healthy blood cells, regular blood transfusions may be required.
Sterile Environment
Patients are vulnerable to infection, making it essential to be in a controlled, sterile environment. Antibiotics may be prescribed to prevent or treat infections.
Chemotherapy
Chemotherapy drugs are administered to eliminate cancerous cells. Treatment may involve:
- Oral medication (pills).
- Intravenous chemotherapy through a central line (a flexible tube inserted into a vein in the chest).
- Intrathecal chemotherapy: Delivered directly into the cerebrospinal fluid via a needle inserted into the spine (similar to a lumbar puncture).

Common Side Effects of Chemotherapy:

Nausea and vomiting
Diarrhoea
Loss of appetite
Mouth ulcers
Fatigue
Skin rashes
Infertility (in some cases)
Hair loss (usually grows back within 3-6 months)

2. Steroid Therapy

To enhance the effectiveness of chemotherapy, corticosteroid injections or tablets may be used.

3. Targeted Therapy with Imatinib

For patients with Philadelphia chromosome-positive ALL, imatinib is used. This oral medication blocks signals that promote cancer cell growth.

Side Effects of Imatinib:

Nausea and vomiting
Swelling (face and lower legs)
Muscle cramps
Rash
Diarrhoea

The induction phase can last from two weeks to several months, depending on the patient’s response. In some cases, treatment may continue on an outpatient basis if symptoms improve.

4. Consolidation Therapy

This phase aims to destroy any remaining cancer cells and prevent relapse. Treatment involves regular chemotherapy injections, often administered on an outpatient basis. Some hospital stays may be required if symptoms worsen or an infection develops. The consolidation phase typically lasts for several months.

5. Maintenance Therapy

Maintenance therapy acts as a safeguard to reduce the risk of leukaemia returning. Patients take regular doses of chemotherapy tablets and attend check-ups to monitor treatment effectiveness. This phase can last for up to two years.

Additional Treatment Options

Beyond chemotherapy and targeted therapies like imatinib, other treatments may be used in specific cases:

Dasatinib

Dasatinib is a newer medication used for Philadelphia chromosome-positive ALL when other treatments are unsuccessful. It blocks a protein that stimulates cancer cell growth, slowing the disease’s progression.

Radiotherapy

Radiotherapy involves using high-energy radiation to destroy cancer cells and is used for:

Advanced cases where ALL has spread to the nervous system or brain.
Preparation for a bone marrow transplant.

Side Effects of Radiotherapy:

Hair loss
Nausea
Fatigue
Skin sensitivity to sunlight and artificial light sources for months after treatment.

Note: Children treated with radiotherapy may experience restricted growth during puberty. Some individuals may develop cataracts years later, which can be treated surgically.

Bone Marrow and Stem Cell Transplants

For patients who do not respond to chemotherapy, a bone marrow or stem cell transplant may be considered. Transplants are more successful with a tissue-matched donor, often a sibling. Before the procedure, aggressive chemotherapy and radiotherapy are used to destroy existing cancerous cells.

Transplants are generally more successful in:

Children and young people.
Older patients who are in good health with a suitable donor.

Important Considerations for ALL Treatment

Treatment for acute lymphoblastic leukaemia is intensive and tailored to each patient’s needs. The goal is to eliminate cancer cells, manage symptoms, and prevent recurrence, with close monitoring throughout the process.

Complications of Acute Lymphoblastic Leukaemia (ALL)

Acute lymphoblastic leukaemia (ALL) and its treatments can lead to a range of complications due to their impact on the body’s immune system, blood clotting ability, fertility, and psychological health. Understanding these potential complications and their management is essential for individuals and their caregivers.

1. Weakened Immune System (Immunocompromised State)

Patients with acute leukaemia often have a weakened immune system due to:

Reduced healthy white blood cells, impairing the body’s ability to fight infections.
Treatment-related effects, as many medications for ALL can further weaken immunity.

Infection Prevention and Management:

Regular Antibiotics: You may be prescribed antibiotics to prevent infections.
Immediate Reporting: Notify your GP or care team of symptoms of infection, such as:
- High fever (38°C / 100.4°F or above)
- Headache
- Muscle aches
- Diarrhoea
- Fatigue

Precautions:

Avoid contact with people who have infections (e.g., chickenpox, measles), even if you were previously immune.
Minimize exposure to crowded places and public transport during rush hours.
Keep vaccinations up-to-date but avoid live vaccines such as:
- MMR (mumps, measles, rubella)
- Oral polio
- BCG (tuberculosis)
- Yellow fever
- Oral typhoid

2. Bleeding and Bruising

Low platelet counts in ALL patients increase the risk of easy bruising and excessive bleeding. Serious bleeding can occur, including:

Intracranial Haemorrhage (Bleeding in the Brain):
- Symptoms: Severe headache, stiff neck, vomiting, mental confusion.
Pulmonary Haemorrhage (Bleeding in the Lungs):
- Symptoms: Coughing up blood, breathing difficulties, bluish skin tone (cyanosis).
Gastrointestinal Haemorrhage:
- Symptoms: Vomiting blood, passing very dark or tar-like stools.

Emergency Response: All types of haemorrhages are medical emergencies. Dial 999 for an ambulance if you or your child exhibit symptoms of bleeding.

3. Infertility

Treatments such as high-dose chemotherapy and radiotherapy can cause temporary or permanent infertility. Those preparing for bone marrow or stem cell transplantation are at higher risk.

Preserving Fertility:

Men: Sperm storage is an option.
Women: Fertilised embryos can be stored for future use.

4. Psychological Impact

A diagnosis of ALL can be overwhelming and emotionally challenging, especially if the prognosis is uncertain. Psychological complications may include:

Stress and Anxiety: Worrying about disease progression and the possibility of relapse.
Depression: Coping with a long-term condition can trigger feelings of despair and isolation.

Support Options:

Counseling or Psychiatry: Talking to a trained professional can help manage emotional health.
Medication: Antidepressants or anxiety-relief medications may be prescribed.
Support Groups: Connecting with others living with leukaemia can provide comfort and perspective.

Support Resources:

Macmillan Cancer Support: Call 0808 808 00 00 (Monday to Friday, 9 am to 8 pm) for support and information.

Additional Resources

Living with Cancer: Explore tips and resources for managing cancer treatment, finding support, and learning from personal experiences.
Living with Acute Lymphoblastic Leukaemia: Visit Cancer Research UK for comprehensive information on coping with ALL.