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Genetics (Expert Forum)
Balanced Translocation and pulmonary emboli
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Balanced Translocation and pulmonary emboli
by Elle38, Dec 30, 2007 02:38PM
I am 38 years old. I was diagnosed with a balanced translocation (7,10) several years ago due to 4 consecutive miscarriages. On Dec 20th/07, I went to the emergency due to chest pain. I was diagnosed with 2 tiny clots in the left lung (pulmonary emboli). I do not smoke, do not take the birth control pill and have no other health problems, I am also quite slender and active. Could this be related to my genetic problem of the balanced translocation? I have been quite anxious about this diagnosis and the fact that coumadin thereapy will continue for 6 months and follow up CT scan and blood tests to look into the cause if any. I would really appreciate any feedback.
Thank you,
Elle
Thank you,
Elle
Doctor's Answer
by Lisa Kessler, MS, CGC, Jan 07, 2008 09:38AM
, Jan 07, 2008 09:38AM
It sounds like you have gone through a lot. It does not seem likely that the pulmonary embolism is related to the balanced translocation. However, you may benefit from testing for inherited thrombophilia’s (such as factor V Leiden, prothrombin genetic mutation, protein C and S deficiency, MTHFR and plasma homocysteine, antithrombin III). These are inherited conditions that can increase the risk for developing blood clots, and testing for these is indicated for people who develop a blood clot before the age of 50 years old.
If you have not already seen a genetic counselor, it may help you because he/she will thoroughly review your family history to determine if there are others in your family who has developed blood clots, and provide detailed information about inherited thrombophilia. You can find a genetic counselor through the National Society of Genetic Counselors or through companies like mine.
If you are taking coumadin, you may also want to consider genetic testing to learn if you have genetic variants that may affect how your body responds to coumadin. Information from this test can help your doctor determine the safest and most effective dose of the medication for you. Best wishes to you.
If you have not already seen a genetic counselor, it may help you because he/she will thoroughly review your family history to determine if there are others in your family who has developed blood clots, and provide detailed information about inherited thrombophilia. You can find a genetic counselor through the National Society of Genetic Counselors or through companies like mine.
If you are taking coumadin, you may also want to consider genetic testing to learn if you have genetic variants that may affect how your body responds to coumadin. Information from this test can help your doctor determine the safest and most effective dose of the medication for you. Best wishes to you.
Regards,
Elle