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Acute Myeloid Leukemia: Identifying Non-Specific Symptoms and Confirming Diagnosis with Bone Marrow Aspirate

Middle-aged Hispanic patient in a medical examination room, appearing fatigued and pale, while a Hispanic doctor explains with a medical chart in hand. In the background, a diagram of bone illustrates the significance of doctor-patient communication in diagnosing acute myeloid leukemia, highlighting symptoms such as fatigue, pallor, and the presence of blasts in peripheral blood and bone marrow aspirate.

Acute myeloid leukemia (AML) is a malignant hematological disease characterized by the clonal proliferation of immature myeloid precursors, known as blasts in peripheral blood. This condition can present with a variety of non-specific symptoms, often complicating early diagnosis. Among the most common symptoms are fatigue, pallor, fever, and abnormal bleeding. Diagnostic confirmation is typically achieved through a bone marrow aspirate, which allows for morphological and cytogenetic evaluation of the affected cells.

Recognizing Non-Specific Symptoms

The symptoms of AML can be subtle and easily confused with other less severe conditions. A study conducted in Nigeria highlighted that recurrent anemia is one of the most common presentations of acute leukemias, including AML. Additionally, extramedullary infiltration may manifest as generalized lymphadenopathy or skin rashes, which can lead to misdiagnosis if the possibility of underlying leukemia is not considered.

In cases of new-onset pancytopenia, AML is one of the most prevalent neoplastic causes in adults, underscoring the importance of considering this disease in the differential diagnosis. The clinical presentation can be misleading, and findings in the bone marrow aspirate are crucial for establishing a definitive diagnosis.

Confirmation with Bone Marrow Aspirate

The bone marrow aspirate is an essential diagnostic tool in AML. It not only allows for the identification of blasts but also the evaluation of cytogenetic and molecular characteristics that may influence prognosis and treatment. A reported case of myelodysplastic syndrome that progressed to AML illustrates how detailed analysis of the bone marrow can reveal malignant transformations that are not evident in peripheral blood.

Moreover, leukemia cutis, a cutaneous manifestation of AML, may precede medullary involvement, highlighting the need for a comprehensive diagnostic approach that includes skin biopsies and bone marrow aspirates to confirm the disease.

Conclusions

AML is a complex disease that requires a high index of clinical suspicion for early diagnosis. Non-specific symptoms such as fatigue and pallor must be carefully evaluated, and the bone marrow aspirate remains the gold standard for diagnostic confirmation. Early and accurate identification of AML is crucial for improving treatment outcomes and patient survival.

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Created 13/1/2025