Robin Roberts' rare blood disorder: What is myelodysplastic syndrome?

Five years ago, celebrated television anchor Robin Roberts beat breast cancer, but Monday on Good Morning America, Roberts revealed that she has myelodysplastic syndrome (MDS) -- a type of bone marrow disease with around 12,000 new cases diagnosed each year, according to the American Cancer Society.

What is MDS?
Also called preleukemia, myelodysplastic syndrome is a group of conditions in which blood cells do not reach a mature state, staying in the bone marrow. When these defective cells outnumber healthy cells, multiple problems like anemia, rapid bleeding or severe infection can develop.

Causes
If doctors do not know the underlying causes of the patient's condition, it is called a de novo MDS.

If the cause is known, it is called secondary MDS. Smoking and exposure to certain chemicals (like benzene) increase one's risk. Cancer treatment like chemotherapy and radiation are a common cause.

Elizabeth Griffiths, physician and assistant professor at the Roswell Park Cancer Institute, said, "This disease is often the result of friendly fire accidentally sustained while a patient is being treated for another cancer."

The Aplastic Anemia & MDS International Foundation (AA&MDSIF) says that treatment-related MDS is often more severe and more challenging to treat than do novo MDS.

Symptoms
Many patients are asymptomatic but are "incidentally found to have abnormal blood counts on routine laboratory screening," reported Stephen A. Strickland, assistant professor at Vanderbilt University.

Griffiths explained that symptoms of MDS are symptoms of bone marrow failure.

"Patients feel fatigued because they are anemic (low red cells), they can have easy bruising or bleeding due to low platelets, and they may have frequent fevers or infections as a result of low numbers of infection-fighting cells."

Classification systems
In 1997, scientists made the International Prognostic Scoring System (IPSS), which produces a score that may help predict the disease's progression.

In 1999 (revised in 2008), the World Health Organization (WHO) system updated the 1976 French-American-British (FAB) system, which classified subtypes of MDS based on bone marrow and blood cell appearance. Be the Match outlines specific types.

Diagnosis
Mikkael Sekeres is the director of the leukemia program at the Cleveland Clinic Foundation and co-chair of the medical advisory board for AA&MDSIF. He explained, "To diagnose MDS, a person must undergo a bone marrow biopsy, and have the bone marrow sample that is obtained analyzed by a trained pathologist."

Other forms of diagnosis include blood tests, which tally a patient's complete blood count (CBC). Below average numbers prompt blood smears and microscopic analysis.

Afterward, the doctor may check for erythropoietin (EPO), a protein generated in the kidneys in reaction to anemia. Doctors may also check for low iron, vitamin B12 and folate levels -- all signs of anemia.

Treatment
Raising the patient's blood count can decrease the number and degree of symptoms, improve the individual's quality of life and lower the likelihood of a blood transfusion. Therefore, it's the primary treatment objective.

AA&MDSIF outlined six general approaches to treating MDS, which vary depending on the severity of the patient's condition: wait and watch, supportive care, immunosuppressive therapy, approved medicines, chemotherapy and bone marrow transplantation.

Roberts is scheduled to begin chemotherapy on Monday and have a bone marrow transplant later in 2012. Luckily, her sister is an excellent match for this transfer.

You can read about clinical trials here. For additional information, visit the MDS Foundation.