Kate's Comment

Thoughts on British ICT, energy & environment, cloud computing and security from Memset's MD

I’m not dying! (again) – factor V, DVT/PE & asthma

Sadly we (Izzy and I) have yet again failed in resolution not to end up in hospital during our holiday. :/ On the plus side, I did manage to wear a humorously (in)appropriate T-shirt for the occasion (see right)! :p

I am starting to think I should stop telling doctors about my clotting factor V mutation (see inset) whenever I see a doctor and am having slight breathing problems! I have a genetic/inherited increased risk of deep vein thrombosis (DVT) leading to pulmonary embolus (PE) by a factor of 4.6x the norm. As an aside, I know this because I got my genome scanned by 23andMe. This, combined with the fact that I’m on homone replacement therapy (HRT – big doses of oestrogen) and the aforementioned breathlessness makes doctors extremely twitchy!

Factor V is a protien which is the last step in the blood clotting pathway – the creation of thrombin, which is the stuff which converts fibrinogen to fibrin to form the meshwork of a clot. Clotting is normally kept in check by a homeostatic feedback loop; once enough thrombin is made it binds to a protein called “protein C” which in turn binds to factor V and deactivates it.

I have what is called a single nucleotide polymorphism in the genes that code for my factor V protien (ie. one of the “letters” in the portion of my DNA which encodes that protien is different to most people’s). This mutation does not stop factor V from doing its main job of converting prothrombin into thrombin, but it does subtley change factor V’s shape in such a way that protein C cannot bind to it to turn it off. My blood can therefore get into a run-away clotting cascade.

When my Scottish ancestors were beating each other with claymores this would probably have been quite quite a handy mutation; faster clotting means less blood loss, and most of them would not have lived long enough to die of a DVT/PE anyway. Unfortunately for me, having a 35% lifetime chance of such a potentially fatal event is not really a good compensation for the opposite of haemophilia!

I actually went to see the doctor to get some medication I forgot to bring with me, but thought I should mention in passing that I had been extremely short of breath since arriving in Lake Louise (Canada).

I did tell him that I had mild asthma and a bit of a cold, and he said there was nothing wrong with my breathing sounds, but worryingly my blood pressure (BP) was a lot higher than normal (~160/115). Thus ensued my fourth trip to a hospital with worries about a DVT/PE, despite there being none of the usual signs like swollen lower legs.

Admittedly, this time it was perhaps more warranted than in the past; I really have been having significant shortness of breath when doing the slightest exercise, and the BP was a worry. Regardless, I did still feel a bit of a twit going to hospital and sure enough, once again I am not dying (yay!). At least this time they did not accidentally diagnose me with a bilateral PE and put me on rat poison (warfarin – a blood thinner) for two days before the consultant reviewed the X-rays and told me I was fine and should go home (ah, the joys of the NHS in Surrey)!

On the plus side though, the very helpful and delightfully Scottish doctor in Banff (roughly a third of the working residents we have met here are ex-pats of one nation of another!) told me that the breathing issues were a combination of altitude, low humidity, coldness, having a cold and my asthma. He has told me to use my inhalers lots more and has also put me on steroids for the duration of my stay (so I can keep skiing) which is quite exciting!

So, this is me, signing off; not dying but skiing – on steroids! :p

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