Ask Dr. Stephan Moll

These questions have been submitted by folks on the mailing list and answered by Dr. Moll, Director of the Thrombophilia Program at the Carolina Cardiovascular Biology Center, Department of Medicine, Division of Hematology-Oncology, UNC Chapel Hill (North Carolina, USA). Why am I doing this?

69. Various Questions III

Q1: "Do you know if there is a connection between factor V Leiden and spinal problems/arthritis?"

A1: There is no known association.

Q2: "I've recently been diagnosed with both protein C and S disorders. I am also positive with factor V Leiden mutation. I am starting to have severe joint and muscular pain in my legs. Have you ever heard of this being a side effect of these disorders?

A2: No, these are not side effects of protein S and C deficiency. However, if somebody with a thrombophilia, such as protein C or S deficiency or factor V Leiden complains about leg symptoms, one always wonders whether they may be due to a deep vein thrombosis (DVT) of the legs. While severe joint pain is not a typical symptom of DVT, symptoms of DVT in the legs can be quite vague. Lastly, whenever somebody mentions that he or she has combined protein C and S deficiency, I wonder whether these are really solid diagnoses - testing for protein S and C has many pitfalls (see Q/A 49, Thrombophilia laboratory testing). The combination of both deficiencies occurs probably in less than 1 in 1 million people. The combination of protein C and protein S deficiency plus heterozygous factor V Leiden is extremely rare and probably occurs in less than 1 in 40 million people - i.e. only 7 people in the U.S. are expected to have such a combination.

Q3 "I was diagnosed with heterozygous factor V Leiden, as well as with multiple cavernous angiomas in my brain. Last fall I had an incident where suddenly the left side of my face went numb, as well as my neck and left arm, which took several days to resolve. My neurologist said it was most likely a mini-stroke. However, he does not want me to take any blood thinners or aspirin due to the potential for additional bleeding of the angiomas. What type of doctor typically handles this condition? Do you have any insight into the combination of these 2 conditions (factor V Leiden and cavernous hemangiomas)? Do you think this is a serious combination?

A3: Neurologists typically deal with these disorders. There is no association between the 2 disorders - the presence of both of them at the same time is coincidental. The factor V Leiden does not make the presence of hemangiomas more dangerous. Thus, I do not think that the combination is serious. However, one is stuck between a rock and a hard place regarding the management of the "ministroke" in you - one would typically want to give a patient with previous stroke an aspirin per day. However, this may possibly increase the risk of bleeding from hemangiomas. I would rely on the assessment of a good neurologist whether aspirin should be given or not. Finally, heterozygous factor V Leiden is not a risk factor for TIAs, except possibly in young women who smoke or take oral contraceptives.

Q4: "Are factor V Leiden and hemochromatosis related?"

A4: No.

Q5: "This Monday I found out I have heterozygous factor V Leiden. I was tested because my cousin tested positive. I have not had any DVT's and no problems. Because I did not know that I had factor V Leiden, I had been taking Prempro®, 0.625 mg per day, for the last 2 years. My internist said that since I'm on Prempro he wants me to get on Lovenox® right away. Then eventually go on coumadin® and keep the range 2-3. Again I say that I am in good health and have not had any problems before I found out I have FVL. My question is: can't I just go off of Prempro? Is my internist going the right direction?"

A5: Yes, you can just come off Prempro. From what this person reports it appears that the internist is overreacting and that there is no good indication for this patient to be on warfarin.

Q6: "I was recently told by my doctor my blood tests showed I had an abnormality called viper ventime. I have searched the web and can't find a thing on that. Do you have information of viper ventime?"

A6: The "dilute Russell viper venom time" (DRVVT) is a coagulation test used to determine whether a patient has a lupus anticoagulant or not. The test is not infrequently misinterpreted. If the test is abnormal (= DRVVT is prolonged), then the lab needs to determine in a second step what the prolongation is due to - presence of a lupus anticoagulant, or the patient being on coumadin® (=warfarin) or heparin are the most common reasons for a prolonged DRVVT. The above patient should ask his/her physician whether a lupus anticoagulant has been demonstrated in him/her.

Q7: "We have questions about HUS [= hemolytic uremic syndrome] (from E. coli) and factor V Leiden. Our son contracted E. coli last summer and has been on dialysis. We are concerned that the factor V Leiden is holding up his recovery due to clotting inside the kidneys."

A7: I do not think that the fact that the patient has factor V Leiden has an influence on his recovery from renal failure. The hemolytic uremic syndrome (HUS) is an acute illness that can be associated with E. coli infection - patients develop renal failure due to platelet clots in the kidney. Once the acute damage has occurred and the infection is over, there is unlikely persistent ongoing thrombosis. Presence of factor V Leiden thus would not be expected to have a detrimental effect on kidney recovery.

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