Common Signs and Symptoms of Chronic Myeloid Leukemia (CML)
About 50% of patients with CML are asymptomatic at diagnosis, with the disease frequently discovered incidentally during routine blood tests. 1
Common Clinical Manifestations
Primary Symptoms (When Present)
- Fatigue - Present in approximately 46% of patients 1
- Weight loss - Reported in about 25% of patients 1
- Malaise - Common constitutional symptom 1
- Left upper quadrant fullness or pain - Due to splenomegaly 1
- Abdominal pain - Present in approximately 23% of patients 1
- Fever - May be low-grade 1
- Night sweats - Non-specific symptom 1
Physical Findings
- Splenomegaly - The most consistent physical sign, detected in 40-50% of cases in adults 1 and at a higher frequency in children and adolescents 1
- Hepatomegaly - Less common than splenomegaly 1
Laboratory Findings
- Leukocytosis - The hallmark finding, often with white blood cell counts exceeding 100 × 10⁹/L 1
- Basophilia - Characteristic finding 1
- Immature granulocytes in peripheral blood - Including metamyelocytes, myelocytes, and promyelocytes 1, 2
- Few or occasional myeloblasts - Blasts account for <5% in chronic phase 1
- Thrombocytosis - Frequent finding 1
- Mild anemia - May be present 1
Less Common Manifestations
- Bleeding - Associated with low platelet count and/or platelet dysfunction 1
- Thrombosis - Associated with thrombocytosis and/or marked leukocytosis 1
- Gouty arthritis - From elevated uric acid levels 1
- Retinal hemorrhages - Uncommon finding 1
- Upper gastrointestinal ulceration - From elevated histamine levels due to basophilia 1
Rare Manifestations
- Leukostatic symptoms - Including priapism, dyspnea, drowsiness, loss of coordination, and confusion; uncommon in chronic phase despite high WBC counts 1
- Extramedullary infiltration - Apart from spleen and liver, rare in chronic phase 1
Disease Progression Symptoms
As CML progresses from chronic phase to accelerated or blast phase, additional symptoms may develop:
- Worsening constitutional symptoms 1
- Headaches - More frequent with disease transformation 1
- Bone pain - More common in advanced disease 1
- Arthralgias - Increased frequency with transformation 1
- Pain from splenic infarction - More common in advanced disease 1
- Fever - More prominent with disease progression 1
- Infections - Particularly in blast phase 1
Important Diagnostic Considerations
- Diagnosis must be confirmed by cytogenetics showing t(9;22)(q34;q11) and by multiplex RT-PCR showing BCR-ABL1 transcripts 1
- Bone marrow biopsy typically shows increased cellularity with proliferation of granulocytic series in various stages of maturation 1
- 90-95% of CML patients present in chronic phase; initial blast phase is rare 1
Clinical Pitfalls
- Do not rely solely on symptoms for diagnosis, as half of patients are asymptomatic 1
- Do not confuse leukemoid reaction with CML - cytogenetic and molecular testing are essential for definitive diagnosis
- Monitor for disease progression, as the transition from chronic to accelerated or blast phase significantly impacts prognosis and treatment approach 1