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The death of screenwriter and filmmaker Nora Ephron took fans by surprise, as it was not publicly known that she had acute myeloid leukemia, a type of blood cancer. The 71-year-old died in Manhattan Tuesday of pneumonia brought on by the disease. The creative genius behind films such as “When Harry Met Sally,” and “Silkwood” had reportedly been diagnosed with myelodysplastic syndromes several years ago, another type of blood cancer that is often slow growing but can transform into leukemia.

WebMD posed questions about both types of blood cancers to Beatrice Abetti, LCSW, Inforamtion Specialist at the Leukemia Lymphoma Society, the world’s largest voluntary health agency dedicated to blood cancers. Here are her responses:

1. What is acute myeloid leukemia?

Acute myeloid leukemia (AML) is an aggressive blood cancer which starts because of a mutation in the DNA of a developing blood cell in the bone marrow.  This abnormal blood cell is unable to complete its development and multiplies wildly.  The marrow fills up with these immature cells, called blasts, and is no longer able to produce sufficient numbers of healthy white and red blood cells or platelets. 

2. What are the symptoms?

Fatigue, anemia (pale skin, shortness of breath), bruises, pin-sized red spots on the skin (petechiae), unexplained fevers, bleeding gums.

3. How is it treated?

With chemotherapy and sometimes a stem cell transplant (bone marrow transplant).

4. Is this a fast or slow growing cancer?

It is an aggressive cancer.  Patients are usually admitted to the hospital within 24 hours of diagnosis and start chemotherapy very quickly.

5. Do we know what causes it?

In the vast majority of cases, the initial mutation that triggers the disease is a random occurence.  Exposure to high levels of benzene can be a factor, as benzene can damage the DNA of normal cells.  A small percentage of patients who have been treated with chemotherapy or radiation for other cancers can develop AML.  There is no screening for this disease.

6. What are myelodysplastic syndromes?

Myelodysplastic syndromes are a group of blood cancers which range from chronic to acute.  They similarly start with a mutation in the DNA of a developing blood cell in the bone marrow.   The marrow fills up with an excess number of developing blood cells which, because of their abnormalities, die before achieving maturity, when they would normally be released in the circulating blood.

7.  How are they treated?

Based on the features of the disease in individual patients (number and type of chromosomal mutations, blood counts, result of the bone marrow biopsy) a level of risk is assigned, which allows to devise a treatment plan.  In some patients with low-risk disease, MDS is not aggressive and does not cause major symptoms, so the patient must be monitored (“watch and wait”) but not treated.  If/when patients develop anemia, they can receive transfusions or treatment with a growth factor to stimulate the marrow to produce more red blood cells.  Conversely, patients  with high-risk disease need chemotherapy treatment, sometimes followed by a stem cell transplant.

8.  Does someone with a myelodysplastic syndrome always develop leukemia?

No.  MDS has the potential to transform into AML, but not all MDS patients progress to AML.

9.  How are the two related?

Both are blood cancers and both diagnoses start with a mutation in the DNA of a developing blood cell in the bone marrow.  Both present with a proportion of blasts (immature cells in a state of arrested development) in the bone marrow: more than 5% for MDS, more than 20% for AML.  Both cause abnormal blood counts, but the course of MDS is usually slower and it may not require treatment at the time of diagnosis.

10.  How is it monitored?

MDS is monitored with periodic blood tests.  A bone marrow biopsy is done at the time of diagnosis.

11.  Can it lead to aggressive cancer?

Yes, MDS does transform into acute myeloid leukemia in some patients.

12.  Nora Ephron’s death seemed sudden, especially if she was being monitored for this condition. While we don’t know details around her specifically, can you speak to this seeming suddenness of her death?

If MDS transforms into AML, the progression is rapid and the patient can decline very quickly.