About 5q Minus Syndrome

5q minus syndrome causes difficult-to-treat anemia. While therapies exist for 5q minus syndrome, the condition often shortens patients' lives and can lead them to develop leukemia. In addition, the two most effective drug treatments for 5q minus syndrome carry significant health risks of their own.

Cause

• A genetic disorder of the bone marrow that over a lifetime leads to the production of fewer and fewer red blood cells, 5q Minus Syndrome occurs because certain genes are not present on the long arm of chromosome 5. Researchers have not positively identified which gene deletions cause this form of myelodysplastic syndrome; R. J. Jaju and colleagues reported in the November 2000 issue of the journal "Genes, Chromosomes & Cancer" that they had narrowed the location of the gene deletion down to an area between 5q31.3 and 5q33.

Who Gets It

• Signs that a person has 5q Minus Syndrome usually do not appear before the age of 60 years, but cases have occurred in people as young as 30. Between 8,100 and 11,250 Americans suffer from 5q Minus Syndrome, and people who smoke, who were exposed to benzene or pesticides, or have undergone chemotherapy or radiation therapy have a higher risk for having the condition manifest itself.

Symptoms

• The noticeable symptoms of 5q Minus Syndrome match the symptoms of anemia. These include chest pain, cognitive problems, cold hands and feet, dizziness, fatigue, headache, irregular heartbeat and shortness of breath. Clinical tests will reveal low red blood cell counts.

  5q Minus Syndrome also produces the accumulation of red blood cell precursors in bone marrow, and can give rise to leukemia.

Treatments

• Blood transfusions figure prominently in the treatment of 5q Minus Syndrome. Also, two drugs are used specifically to address the underlying cause of the condition: lenalidomide, marketed under the brand name Revlimid by Celgene, and Thalomid, a branded version of thalidomide also from Celgene. Both of these drugs can cause severe birth defects, fetal death and dangerously low blood counts, so patients who take either medication must enroll in, and abide by the rules of, specially designed safety programs.

  According to A. A. N. Giagounidis and C. Aul, who contributed a monograph on 5q minus syndrome to the latest edition of the textbook Rare Hematological Malignancies, clinical studies have shown that low-dose cytarabine (e.g., Cytosar-U from Teva), darbopoetin (Aranesp from Amgen), erythropoietin and marrow stem cell transplantation can help some people with 5q minus syndrome.

Prognosis

• Giagounidis and Aul note that people diagnosed with an uncomplicated form of the condition can expect to live another 70 to 107 months. This life expectancy compares unfavorably with that of individuals of the same age who do not have 5q Minus Syndrome, however. As Giagounidis and Aul write, "At the age of 67, the general female population in Germany is expected to live for another 244 months, whereas men generally live 188 months." When 5q Minus Syndrome occurs along with another blood disorder, the patient's life expectancy drops to about one year.