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Genetics  (Expert Forum)
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Homozygous MTHFR & Heterozygous Factor V Leiden
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Homozygous MTHFR & Heterozygous Factor V Leiden

by applelvr61, Jun 27, 2009 07:50PM
My 50 yr old husband was recently diagnosed Heterozygous Factor V Leiden following a visit to the emergency room for Atrial Fibrillation which lasted for 2 1/2 hours until treated with medication.  He was started on 325mg aspirin, Digoxin and Lisinopril. He was not started on blood thinning medication such as Coumadin.  Each memeber of his medical team had a different opinion regarding the need.  (The Factor V test was done because 2 yrs ago, his sister (at age 55) was found to have Homozygous Factor V Leiden following the development of a clot behind her knee due to a broken bone in her foot.)  His hemo doctor tested him for MTHFR Mutation C677T & A1298C and a homocysteine level  These results found him to have Homozygous Mutation C677T and negative for MTHFR Mutation A1298C.  In addition, his homocysteine level was of 10.    Does the fact that we know that he is homozygous MTHFR C667T warrant the need for this **************?  His medical team consists of his PCP, Cardio doc & Hemo doc, how can we get them to agree on his course of treatment?  Thank you.    

by Jordanna Joaquina, MS, CGC, Jul 08, 2009 01:44PM
To: applelvr61
It can be very frustrating when doctors and health professionals have differing opinions on the most effective way to treat or prevent disease. In some cases, disagreement occurs as there is no official recommendation or medical consensus on "right/best way" to treat a condition.

It may be helpful to get all of the physicians to discuss their reasons for recommending a particular treatment. For example - are they basing their recommendations on scientific evidence, anecdotal evidence or a combination of both. It is also helpful to discuss the benefits of treatment versus the costs and limitations of treatment. Hopefully, after gathering all of the appropriate information you and your spouse can make a more informed decision regarding treatment.
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