2008.03.07 – New Genetic Test Detects PV
New Genetic Test Detects Rare, Deadly, Difficult-to-Diagnose Blood Disorder
Pathology expert on molecular screening for PV, a dangerous myeloproliferative disease
Plainview, NY (PRWEB) March 7, 2008 — Polycythemia vera may be a rare disorder – it affects just five of every 1 million adults in the U.S. – but it makes up for what it lacks in prevalence with its severity and complexity. PV is a myeloproliferative blood disorder whose symptoms mimic those of countless other maladies, from a simple headache to the flu; sometimes patients have no symptoms at all. Left undiagnosed or untreated, PV patients often die within two years of developing the disorder. What’s more, doctors have found PV to be one of the most challenging blood disorders to diagnose, because many other more common health problems with the same symptoms must be ruled out before a diagnosis of PV can be confirmed.
However, researchers recently discovered a chromosomal abnormality that occurs in up to 97% of patients with a confirmed diagnosis of PV, and this has led to the development of a new genetic test that can speed up diagnosis, treatment and monitoring of patients with this rare disease. According to Dr. Shashi Pawar, PhD, DABMG, the Director of Genetics at Acupath Laboratories in New York, this simple blood test can detect a mutation in the JAK2 gene that occurs in the vast majority of PV cases, helping doctors to confirm the disorder. “Now patients who suffer from Polycythemia vera can receive a much faster confirmation of their diagnosis, which will lead to timelier treatment and a better prognosis overall,” Dr. Pawar explains.
What is Polycythemia Vera?
PV is a disease that is caused when stem cells in the bone marrow begin to overproduce red blood cells. It often develops slowly over time, most often in men over the age of 60. Initial symptoms are often innocuous, such as dizziness, headache, fatigue and flushed or itchy skin. However, as the disease progresses, the proliferation of red blood cells triggers overproduction of white blood cells and platelets as well. This chain reaction causes the blood to thicken uncontrollably, which can lead to thrombosis (blood clots), heart attack and stroke. In some PV patients, the liver and the spleen enlarge as a result of the increased blood volume in the body. In addition, PV patients are at an increased risk of developing Acute Myelogenous Leukemia (AML) if abnormal bone marrow cell growth is not controlled.
Treating and Managing Polycythemia Vera
Patients with PV are often treated with a combination of strategies to thin the blood, ensure proper organ function and suppress the proliferation of abnormal blood and bone marrow cells. The primary treatment is phlebotomy – the removal of blood from the system – which is performed at regular intervals until a normal blood volume is reached. In addition, patients may be treated with chemotherapy and/or interferon in order to reduce the number of malignant bone marrow cells and encourage normal blood cell development. Finally, some patients are treated with a medication to lower platelet counts. PV patients whose disease is properly treated and managed survive an average of 15-20 years.
“The cause of PV is largely unknown, but now that we have identified a genetic ‘signal’ that the disease is present, the battle is half-won,” Dr. Pawar says. “This is good news for patients because we can diagnose and manage the disease more effectively, but it is also good news scientifically, because we can now study why this gene mutation occurs, and hopefully determine the causes of this disorder,” she adds. The JAK2 mutation is also found in approximately half of all patients who are diagnosed with other similar myeloproliferative disorders, such as Essential Thrombocythemia (ET) and Idiopathic Myelofibrosis (IMF), and this new test may prove helpful for diagnosis and management of these disorders as more research is done.
Acupath Laboratories recently received approval from the NY State Dept. of Health to offer the JAK2 testing to patients who believe they may have PV.
About Dr. Shashi Pawar, PhD, DABMG
With over twenty years of varied experience in molecular genetics and molecular pathology, Dr. Shashi Pawar serves as the director of Genetics at the Acupath Laboratories, Inc. She is American board of medical genetics certified in clinical Molecular genetics and clinical Cytogenetics. Additionally, she has published in dozens of highly acclaimed medical journals and publications, including the Proceedings of National Academy of Science and the Journal of Biological Chemistry. At Acupath laboratories Inc. Dr. Pawar implements cutting edge technology in molecular diagnostics to bring clinical diagnostics tests within easy reach of the Physicians and patients.
Acupath Laboratories, Inc. is an innovative national specialty medical laboratory located twenty miles east of Manhattan in Plainview NY. Acupath’s reputation is built on the foundation of our nationally recognized board certified pathologists, molecular geneticists, and cytogeneticists leaders in their fields; many have sub-specialty certification. Acupath performs only pathology, molecular and cytogenetic exams; ensuring the highest standards in the industry. www.acupath.com