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Painful areas in legs, stomach pains, nausea. diagnosed with ME CFS. family history of thrombotic thrombocytopenic. Chances of inheriting disease ?

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General & Family Physician
Practicing since : 2007
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My daughter's paternal aunt died from thrombotic thrombocytopenic at the age of 33. My daughter is 19 and appears to be suffering from Thrombotic Thrombocytopenic Purpura. She has developed painful areas on her leg that have been diagnosed as 'stretch marks' and 'thrombotic phlebitis' - neither diagnosis appears to fit. My daughter was diagnosed with ME (CFS) 5 years ago. What is the likelihood that she has inheritted her aunt's condition? She has constant problems with stomach pains and nausea (she had her appendix removed when she was 13) and is generally unwell most of the time.
Posted Fri, 4 May 2012 in Blood Cancer(Leukemia)
Answered by Dr. Mohammed Tauseef 56 minutes later

Thank you for the Query.

I would like to know few more things which would help me in suggesting you better:

1.) Apart from above mentioned complaints, does she have blood in stools or urine?
2.) Is her menstrual flow heavy?

I would like to let you know that she has Inherited TTP(Thrombotic thrombocytopenic purpura) from her father and not her aunt and there is 50% chance that she inherits it. The CFS(Chronic Fatigue Syndrome) which she has, has many causes for which she would require thorough health check up, one of the causes could be TTP which causes Anemia.

Her spleen, which is a small organ about the size of a person's fist located just below the rib cage on the left side of the abdomen,may harbor more platelets causing their reduced number in circulation. This enlarges it which is called Splenomegaly, causing Abdominal Pain and Nausea and other related symptoms. The platelets also get trapped within the veins forming clumps, which causes their Inflammation, leading to Thrombotic phlebitis.

Let her get examined by a Platelet transfusions. Her treating Doctor will know better.

Let her follow these lifestyle modifications:

1.) Avoid stress, practice relaxation techniques like yoga and meditation.
2.) Eat healthy nutritious balanced diet which should include fresh fruits and XXXXXXX leafy vegetables.
3.) Sleep for a minimum of 8 hours daily.
4.) Avoid injuries.
5.) Avoid smoking and alcohol if at all she uses them.
6.) Stick to her treatment plan and go for regular follow up.

Hope I have answered your Query, I will be available to answer your follow up Queries.

Wish her Good Health.

Take Care.

Dr. Mohammed Tauseef.
Above answer was peer-reviewed by
Follow-up: Painful areas in legs, stomach pains, nausea. diagnosed with ME CFS. family history of thrombotic thrombocytopenic. Chances of inheriting disease ? 1 hour later
Yes, my daughter does have heavy periods - even while taking the contraceptive pill. In fact her doctor has suggested that she takes pill continuously for 3-6 months to avoid bleeding altogether.
She had a blood test some time ago and the doctor said that she had anaemia - he described it in simple terms that she had 'fewer platelets and the ones that she had weren't red enough'.

I do not think that she has blood in stools or urine.

She is vegetarian, eats a very healthy diet. doesn't drink or smoke. She would sleep at least 8 hours a night if she could but is presently sleeping very badly.

Would you please clarify. Did you say that she would have inherited the TTP from her father? Could he have it and not be aware (be a 'carrier)? as I do not think that he has any of the symptoms.
If there is a 50% chance that she HAS inherited it I am very disappointed that this has not been thoroughly investigated by our family doctor. Is there a specific test that will tell us one way or another if this is what she has?

Many thanks

Answered by Dr. Mohammed Tauseef 20 minutes later

Thank you for Writing Back to me.

Your Doctor is absolutely right, as in this condition, the platelet count will be very less causing abnormal bleeding. For this reason, in case of heavy menstrual flow Hormonal Pills will be of less help as platelet count will continue to be less, unless transfused. Regular abnormal bleeding causes anemia, weakness and fatigue.

Take her for regular Blood Work to check her platelet count, your Doctor will let you know the frequency of the tests required.

There are different types of TTP(Thrombotic thrombocytopenic purpura) like,

1.) Inherited TTP.
2.) Acquired TTP.
3.) Triggers for TTP such as in pregnancy, cancer, HIV, infection or lupus.

In Inherited TTP, there is a faulty gene which affects the enzyme's function and this doesn't help the enzyme make normal platelets and this faulty gene is inherited from parents. One of the parent will have one copy of the altered gene, but have no signs or symptoms of the disorder.

There is a Test called "ADAMTS13 Assay", a lack of activity in this enzyme causes TTP.

Hope now I have made my point clear to you.

Wishing you good health.
All the Best.

Dr. Mohammed Tauseef.
Above answer was peer-reviewed by
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