I was Diagnosed with Factor V Leiden heterogeneous about a year after I was diagnosed with Avascular Necrosis/Osteonecrosis to check for any possible underlying clot issues, and sure enough I can add yet another health concern to the suck column. Because many have a disorder and don’t really know it , I am a big believer in getter checked out.
I will post some info on various blood disorders associated with AVN. It still boggles my mind how there isn’t better treatment options for AVN (Avascular Necrosis/Osteonecrosis). I mean there are so many ways to get it from blood disorders to steroids Corticosteroids, Glucocorticoid, Anabolic, Cortisone Shots, to Alcohol abuse, To divers who get the bends to trauma to bone or joint to autoimmune disease and more….Today I will focus on Blood Disorders
Homocysteine is an amino acid produced by the body.
Elevated homocysteine levels are linked to high concentrations of endothelial asymmetric dimethylarginine (ADMA); a chemical found in blood plasma. ADMA interferes with the synthesization of Nitric Oxide from L-Arginine. Nitric Oxide is important in our bodies because it increases blood flow.
It is important for Osteonecrosis (Avascular Necrosis) sufferers to have their homocysteine levels checked because high homocysteine levels cause narrowing of the arteries and can lead to excessive blood clotting.
Vitamins B6, B12 and Folic acid are commonly taken to lower homocysteine
Factor V Leiden
Factor V Leiden is an inherited blood clotting disorder. It is a specific gene mutation that can result in thrombophilia (an abnormality of blood coagulation that increases the risks of blood clots forming in blood vessels).
People who are heterozygous (carry one gene mutation) or homozygous (carry two gene mutations) are at higher risk of developing a DVT (deep vein thrombosis).
Factor V Leiden is the most common clotting disorder. 3-8% of Caucasians in North America carry the gene mutation.
Factor V Leiden can cause miscarriages. Pregnant women with Factor V are considered high risk and need to be on a course of low molecular heparin or it’s derivative, Enoxaparin Sodium (generic name is Lovenox), during pregnancy.
WHAT ISN’T WIDELY DISCUSSED/KNOWN
Factor V Leiden along with other blood clotting disorders has been DIRECTLY linked to Osteonecrosis/Avascular Necrosis. There are several clinical papers I will post here on this blog concerning this fact.
If you have Factor V you should NEVER take steroids. Even a 20 day use of high dose Prednisone can cause ON/AVN.
If you have Factor V NEVER take drugs with estrogen, ie, the Pill.
If you have Factor V NEVER eat products that advertise themselves as containing phytoestrogen.
Note: The above are recommendations given to me during a conversation with Dr. Charles Glueck and are supported by his research. This is not medical advice for you this is based on the diagnosis of my Factor V Leiden.
What is the eNOS (Endothelial Nitric Oxide Synthase) gene T786C mutation
When someone has a mutation in their eNOS gene it means that their body doesn’t produce an amino acid called L-Arginine (also refered to as Arginaid). Arginine is important because it leads to the formation of Nitric Oxide in the body.
Nitric Oxide widens blood vessels and increases blood flow within the body.
If you have the eNOS mutation your body doesn’t manufacture enough Arginine, therefore, it doesn’t produce Nitric Oxide which leads to vascular problems, i.e. clotting.
Considering that Osteonecrosis (Avascular Necrosis) is caused by a lack of blood supply to the bone, it is imperative that ON (AVN) sufferers be tested for the eNOS T786C gene mutation.
Most people with the T786C mutation are instructed to take Arginine, in powder form, under the guidance of a medical professional.
More in-depth explanation of the eNOS mutation
Nitric Oxide is a free radical gas made in the endothelial cells from the amino acid, L-Arginine, by Nitric Oxide Synthase (eNOS). Nitric Oxide Synthases are a family of enzymes; biological molecules that make chemical reactions happen.
Nitric Oxide plays a major role in vasodilatation. Nitric Oxide widens the blood vessels, and maintains vascular tone in the body.
If there is the presence of the T786C mutation in the eNOS gene there is decreased synthesization of Nitric Oxide. This decreased synthesization leads to vascular problems including: coronary spasm and thrombophilia.
The human body usually manufactures Arginine, in the case of people with the eNOS mutation their bodies do not sufficiently produce enough Arginine, therefore, their bodies cannot support Nitric Oxide Synthesization.
MTHFR ( no im not swearing and yes MTHFR really is a thing )
What is MTHFR? Contrary to how it looks, “MTHFR” is not an abbreviation for a curse word, but a shortened form of methylenetetrahydrofolate reductase… Aren’t you glad it is abbreviated?
MTHFR is an enzyme that adds a methyl group to folic acid to make it usable by the body. The MTHFR gene produces this enzyme that is necessary for properly using vitamin B9. This enzyme is also important for converting homocysteine into methionine, which the body needs for proper metabolism and muscle growth and which is needed for glutathione creation . The process of methylation also involves the enzyme from the MTHFR gene, so those with a mutation may have trouble effectively eliminating toxins from the body.
Sickle cell anemia (SCD) facts
Sickle cell trait, which is the inheritance of one sickle gene, almost never causes problems.
Virtually all of the major symptoms of sickle cell anemia are the direct result of the abnormally shaped sickled red blood cells blocking the flow of blood.
The current treatment of sickle cell anemia is directed primarily toward managing the individual features of the illness as they occur.
Plasminogen activator inhibitor-1 (PAI-1) deficiency is a rare inherited autosomal recessive bleeding disorder characterized by excessive clot lysis leading to a moderate lifelong bleeding diathesis. PAI-1 is an essential protein critical in down-regulation of the fibrinolytic pathway.
Factor V Leiden http://local.cincinnati.com/share/story/226682
Sickle Cell. http://www.nejm.org/doi/full/10.1056/NEJM199111213252104
Remember this is not medical advice just information NEVER do anything without consulting your primary care doctor!!