Today’s rare disease: acute myeloid leukemia
While leukemia itself isn’t rare, some of its subtypes are - including acute myeloid leukemia (AML). Today would have been Zuza Beine’s 15th birthday - a content creator many of us knew well. She suffered from AML, and it was the disease that ultimately, unfortunately, took her life.
Rarity: heavily tied to aging - less than 1 in 100,000 in people under 40
AML is an aggressive blood cancer that starts in the bone marrow and rapidly produces immature, malfunctioning white blood cells.
It originates from myeloid stem cells. Instead of developing into healthy infection-fighting or oxygen-carrying cells, they become cancerous "blasts". These blast cells accumulate quickly in the blood and marrow, leading to marrow failure.
It is the most common acute (fast-moving) leukemia in adults, though it can occur in children (like Zuza, who first developed it when she was three). The risk rises with age and is commonly diagnosed in individuals over 65.
Symptoms:
- Anemia (low red blood cells): extreme fatigue, shortness of breath, and pale skin
- Neutropenia (low functional white blood cells): frequent or recurring infections and unexplained fevers
- Thrombocytopenia (low platelets): easy bruising, frequent nosebleeds, and tiny red dots on the skin (petechiae)
Diagnosis:
- Blood tests, like complete blood count (CBC) and peripheral blood smear
- Bone marrow aspiration and biopsy
- Cytogenic and molecular testing: dictate the specific subtype of AML
Treatment:
Treatment is typically split into stages.
1. Induction therapy: intensive chemotherapy designed to kill the leukemia cells in the blood and bone marrow and put the cancer into remission
2. Consolidation therapy: additional chemotherapy or targeted therapies to destroy any remaining cancer cells and prevent relapse
3. Stem cell transplant: often recommended for high-risk patients to replace diseased bone marrow with healthy stem cells
Unfortunately, the rate of relapse in AML is very high - about 60 to 70 percent in adults. In children, the risk is lower, but still very significant - about 30%












