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Tuesday, June 28, 2016
Bleeding and Clotting Disorders
I have been test for the following bleeding/clotting disorders/mutations and wondered if there are any recent discoveries on treatment, or issues of having multiple problems that should be of concern.
MTHRF homozygous PAI1 VWD type 1
I am a 47 year old female. I have had 3 children (vaginal deliveries at age 21, 24 and 26) with no complications except for my first delivery which I hemmoraged and had to have a blood transfusion. I have had other multiple female issues since including heavy periods, fibroid tumor and ovarian cysts. My gynocologist refused to do a hysterectomy after speaking with my hematologist who said the risk was too great. The hematologist was willing and said he would need to give me some type of clotting medication and be present for the surgery. I have not had the surgery but continue to have problems with pain and heavy bleeding. My gyno currently has me on b/c pills to surpress my periods which are lighter but still occur. My hematologist said it was okay to take them. However, I went to a cholesterol specialist in the 80`s when my mom could not get hers under control and was first diagnosed with MTHFR so I decided to get tested. He put me on the vitamin regimine of B6, B12, folic acid and baby aspirin. I was also on b/c pills then and had heavy bruising. I had to stop taking the aspirin because I kept bleeding really bad (probably due to the VWD I just found out about). He told me never to take them again. I have learned since that they have done further studies and are not certain the vitamin regimine is as successful as previously thought. I still take vitamin B and folic acid supplements just not as much.
In addition, I have had 4 other surgeries: tonsilectomy, appendectomy, wisdom teeth extraction and hernia operation. No complications from any but did hemorrage mildly from the wisdom teeth and had to go be re-packed.
My hematologist told me not to worry about the PAI1 unless I am injured esp. head injury and to avoid contact sports, motorcycles and rollercoasters. As for the VWD he said that is not that serious of a type to worry either. I am concerned about the MTHFR as I get older and go through menopause as I have read that lower estrogen levels can increase your homocysteine levels (which currently are not high) and could cause clotting problems.
Do you have any advise or new information you can refer me to relating to my situation? I feel that as I get older, I am just a time bomb waiting to go off and I`m not sure what to for prevention or even awareness. How will they treat me if I develop clots having VWD?
Thank you so much for your assistance.
It is not possible to make any specific recommendations in a forum such as this, but I will try and help out a bit. What you describe is somewhat of a confusing story, as I cannot distinguish if you have primarily a bleeding or clotting problem by what you describe. You seem to have several surgical procedures, the majority of which were not complicated by bleeding, while some seem to have been.
A mutation of MTHFR is only a problem if it leads to increased homocysteine levels. If homocysteine levels are normal, there is not thought to be an increased risk for venous or arterial thrombosis.
It sounds like someone has tested you for vWD and diagnosed you as a type I. In these cases many are successfully treated with oral contraceptives as you describe you have been treated. The estrogen will increase the production of vWF and may correct the defect. Regarding the PAI-1, it is not clear if you were diagnosed as congenitally deficient, but regardless you have not seem to have clotting problems which could result from a true congenital deficiency.
Given this combination of rare findings, I would encourage you to be seen by a hematologist with expertise in bleeding and clotting disorders to truly figure out exactly what is going on with you, and determine if you are at risk for clotting or bleeding complications. You should be able to find such a specialist at a nearby university.
Spero R Cataland, MD
Associate Professor of Clinical Internal Medicine
College of Medicine
The Ohio State University