The Hemophilia and Thrombosis Center of Nevada

2020 W. Palomino Lane Suite 110

Las Vegas, Nevada 89106

702-385-2702

since May 5, 2008

Last updated May 5, 2008

webmaster RIS

What Is It??    HOMOCYSTEINE

Homocysteine is an amino acid important in metabolism.  In the past, a markedly elevated homocysteine level has been associated with a higher risk of forming blood clots and vascular disease.  However, it is only recent that mild hyperhomocysteinemia has been associated with these complications.

As compared to the general population, persons with hyperhomocysteinemia have a 6.8 time greater risk of peripheral arterial disease, 2.5 time greater risk of stroke, and 2 time greater risk of heart disease.  The risk of mild hyperhomocysteinemia may be as important as the risk associated with increased cholesterol or smoking history.

How Do You Get It??

Mild elevations of homocysteine in the body can be inherited.  This commonly occurs in up to 50% of persons from North America.  However, elevated homocysteine may also be related to a diet low in Vitamin B12 or Folic Acid.  The combination of an inherited syndrome and the dietary deficiency may significantly increase the risk of developing blood clots or vascular disease.

Who Knows If They Have It??

People with recurrent blood clots or problems with vascular disease that have no other explanation may be tested for the presence of hyperhomocysteinemia.   A genetic test for one of the inherited defects, an abnormal MTHFR, is  available.

A recent study was published evaluating whether the gene defect alone is a risk factor for recurrent blood clots.  This very large well done study demonstrated that the presence of this gene abnormality alone does NOT increase the risk of recurrent blood clots.  Therefore testing is controversial and guidelines will probably be revised in the future.

What Should You Do About It??

To treat hyperhomocysteinemia, vitamin supplements are given in order to try to lower the level.  This can be done by taking a combination of Vitamin B6, B12, and Folic Acid.

However, recent data demonstrate that although you can lower the homocysteine level with B supplements, in one study this did not decrease the risk of recurrent blood clots. 

 Therefore, treatment with blood thinners is often needed. 

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Last modified: March 02, 2008