Leukaemia

Specialties > Cancer

Background Knowledge 🧠

Definition

Leukaemia is a group of cancers that originate in the bone marrow and result in the overproduction of abnormal white blood cells.
These abnormal cells interfere with normal blood cell production and function.
Leukaemia can be classified into acute and chronic forms, as well as lymphoid or myeloid lineages.

Epidemiology

Approximately 9,900 new cases of leukaemia each year in the UK.
Acute leukaemias are more common in children, while chronic leukaemias are more common in adults.
Slight male predominance.
Higher incidence in developed countries.
Risk increases with age.

Aetiology and Pathophysiology

Genetic mutations and chromosomal abnormalities are key factors.
Risk factors: Radiation exposure, certain chemicals (e.g., benzene), prior chemotherapy.
Some hereditary conditions (e.g., Down syndrome) increase risk.
Pathophysiology involves the clonal expansion of malignant haematopoietic stem cells.
These cells proliferate uncontrollably and fail to mature, leading to bone marrow failure.

Types

Acute Lymphoblastic Leukaemia (ALL): Common in children, rapid progression.
Acute Myeloid Leukaemia (AML): More common in adults, rapid progression.
Chronic Lymphocytic Leukaemia (CLL): Common in older adults, slow progression.
Chronic Myeloid Leukaemia (CML): Characterised by the Philadelphia chromosome, slow progression initially.
Other rare types: Hairy cell leukaemia, T-cell prolymphocytic leukaemia.

Clinical Features 🌡️

Symptoms

Fatigue and weakness.
Fever and recurrent infections.
Bleeding and bruising easily.
Bone and joint pain.
Weight loss and night sweats.
Lymphadenopathy and splenomegaly in chronic forms.

Signs

Pallor and signs of anaemia.
Petechiae and purpura.
Hepatosplenomegaly.
Lymphadenopathy.
Signs of infection (e.g., oral thrush, pneumonia).
Bone tenderness on palpation.

Investigations 🧪

Investigations

Full blood count: Anaemia, leukocytosis or leukopenia, thrombocytopenia.
Peripheral blood smear: Presence of blasts in acute leukaemia.
Bone marrow biopsy: Hypercellularity with increased blasts.
Cytogenetic analysis: Detect chromosomal abnormalities (e.g., Philadelphia chromosome in CML).
Immunophenotyping: Determine lineage of leukaemic cells.
Molecular testing: Identify specific mutations (e.g., FLT3 in AML).

Management 🥼

Management

Acute leukaemia: Immediate treatment with chemotherapy.
Chronic leukaemia: Watchful waiting or targeted therapy (e.g., imatinib for CML).
Bone marrow or stem cell transplant in eligible patients.
Supportive care: Blood transfusions, antibiotics for infections.
Radiotherapy for specific indications (e.g., CNS involvement).
Palliative care in advanced cases.

Complications

Infections due to immunosuppression.
Bleeding and bruising due to thrombocytopenia.
Anaemia and associated symptoms.
Tumour lysis syndrome during treatment.
Secondary malignancies.
Organ infiltration by leukaemic cells.

Prognosis

Varies widely depending on type and stage at diagnosis.
ALL has a high cure rate in children with appropriate treatment.
CML has a good prognosis with targeted therapy (e.g., imatinib).
AML prognosis depends on age, genetic mutations, and response to treatment.
CLL often follows an indolent course, but prognosis can worsen with certain genetic mutations.
Regular follow-up is crucial for monitoring response to treatment and detecting recurrence.

Key Points

Leukaemia is a diverse group of blood cancers with varying prognoses.
Early diagnosis and treatment are crucial for improving outcomes.
Management includes chemotherapy, targeted therapy, and supportive care.
Bone marrow or stem cell transplant may be necessary in some cases.
Follow-up care is essential to monitor for complications and recurrence.
Research is ongoing to improve treatment options and outcomes for patients with leukaemia.

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