Polycythemia Vera and Lou Gehrig’s Disease
Polycythemia Vera (PV)
PV is in basic terms “a stem cell disorder characterized by proliferation of a clone of hematopoietic precursors, nearly all of which arise from a mutation in the JAK2 (janus kinase 2) gene” (Hines & Marschall, 2012, p.417). Being a bone marrow disease, PV leads to what MedicinePlus (2013), a U.S. National Library of Medicine service, refers to as an unusual increase in primary red blood cell numbers.
Symptoms and Causes
Some of the symptoms of this PV include but they are not limited to fatigue and shortness of breath, reddened and itchy skin, dizziness and unexplained headaches, and breathing difficulties (MedicinePlus, 2013). Other symptoms in this case could include unexplained weight loss and general body weakness.
PV essentially comes about when there is a problem with the production of blood cells as a result of a mutation in the affected individual’s bone marrow cell. The exact cause of the said mutation is not known (MedicinePlus, 2013).
Hyperviscosity could lead to “thrombosis of small vessels, with ruddy cyanosis of the nose and clubbing (stunting) of the digits (Mills, 2005). PV could also trigger blood clots as it is known to thicken blood. The said blood clots could increase an individual’s risk of suffering a heart attack or stroke. Other complications associated with PV include myelofibrosis and gout (MedicinePlus, 2013).
Treatment of PV according to MedicinePlus (2013) largely concerns itself with reducing blood thickness so as to reduce chances of clotting. Yet another goal of treatment in this case is the reduction of the amount of blood cells. This could be done via the administration of chemotherapy (MedicinePlus, 2013).
Lou Gehrig’s Disease
Also referred to as amyotrophic lateral sclerosis (ALS), Lou Gehrig’s disease according to the ALS Association (2010) “is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord.”
Symptoms and Causes
The earliest and perhaps most common symptoms of ALS include chewing and/or swallowing difficulties, slurred speech, general weakness of the muscles — particularly arm and leg muscles, stiffness of muscles, occasional cramps, etc. (National Institute of Neurological Disorders and Stroke — NINDS, 2013). As NINDS further points out, in later stages of the disease, individuals affected could in addition to experiencing difficulties in breathing also have an increased risk of pneumonia.
The exact cause of ALS according to the ALS Association (2010) is yet to be fully understood. There is however ongoing scientific research with bodies like NINDS conducting further biomedical studies on ALS.
In addition to triggering or bringing about breathing problems, ALS has also been associated with dementia. With regard to breathing, ALS causes paralysis of some breathing muscles. The condition could also affect an individual’s swallowing control muscles.
According to ALS Association (2010), currently, there are no drugs or medical procedures that have the ability to either completely halt or reverse ALS. However, riluzole which according to the association is an FDA approved drug has been shown to slow ALS progression. Some symptoms and complications of the disease can be managed via the utilization of specialized medical devices.
ALS Association. (2010). What is ALS? Retrieved from http://www.alsa.org/about-als/what-is-als.html
Hines, R.L. & Marschall, K.E. (2012). Stoelting’s Anesthesia and Co-existing Disease (6th ed.). Philadelphia, PA: Elsevier Health Sciences.
MedicinePlus. (2013). Polycythemia Vera. Retrieved from http://www.nlm.nih.gov/medlineplus/ency/article/000589.htm
Mills, E.J. (2005). Handbook of Medical-Surgical Nursing (4th ed.). Ambler, PA: Lippincott Williams & Wilkins.
National Institute of Neurological Disorders and Stroke — NINDS. (2013). Amyotrophic Lateral Sclerosis (ALS) Fact Sheet. Retrieved from http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm
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