Showing posts with label rare. Show all posts
Showing posts with label rare. Show all posts

Sunday, 23 December 2012

Sprouts: A Festive Warning

Regular readers - and anyone who's ever had a roast dinner with me - will be aware of my aversion to Brussels sprouts. I might go so far as to call it a hatred of them.

And finally I have conclusive proof that eating sprouts is bad to for you (albeit only under highly specific conditions): a man was hospitalised last Christmas after eating too many Brussels sprouts. Sprouts contain a very high level of vitamin K, which promotes blood clotting and as a result of the sheer amount of sprouts the poor man had eaten, the high levels of vitamin K served to counteract the effect of the anticoagulants he was taking due to heart failure.

Docftors were baffled as to why the medication wasn't working until, presumably, one of them smelled him.

DANGER! DANGER!

Wednesday, 29 August 2012

The Sound of Striped Hooves

Around a year or so ago, an interesting thing happened to me. I was in the car with my mother, we were driving down the motorway, and there was a car pulling a horsebox in front of us. We were going rather faster than the horsebox, and as we passed it, I looked inside and saw… a zebra. It was only a glimpse and it confused the hell out of me for a moment, but I am still sure it was a zebra, not a horse, inside that horsebox.* At first I was slightly worried I might be going mad, but my mother pointed out that there are plenty of zoos and animal parks around the place and presumably they must transport their zebras somehow.

Folk of a medical persuasion will probably see where I am going with this, but I promise it is an entirely true story, the proof of which is that it took months and months for it to occur to me that I could use it on this blog. What can I say? I am slow.

Healthy people are probably wondering why I am blathering about hoofed african mammals instead of my usual cheery chat about tumours, but fret not. All shall be revealed.

A zebra is, as Wikipedia (and, I believe, Scrubs) so nobly tells us, the medical term for a surprising diagnosis, which rather begs the question of what we should call those stripey ponies running around in nature documentaries. It comes from the aphorism that when you hear hoofbeats behind you, you don't expect to see a zebra. This is a wise observation which is totally inapplicable to anyone who lives in the African plains, but as it was coined by an American doctor in the 1940s, this oversight may perhaps be forgiven. The point is that when a doctor is presented with a set of symptoms which may be caused by a common illness or an uncommon one, the logical assumption should be that the patient most likely has the more common illness - even though there may be a temptation to go with the more dramatic diagnosis.

I have noticed this idea of being a medical zebra popping up in a few blogs by other people with rare pituitary tumours, particularly in those with Cushing's disease - possibly this is related to the fact that one of the symptoms of Cushing's is the development of dramatic stretchmarks of a stripey and thus zebra-like nature. A few further examples - here, here and here.

A group of Cushing's sufferers at a recent conference.
I guess I count as a medical zebra myself; my symptoms of hyperthyroidism such as tachycardia, hair loss and frenzied blogging** would normally be considered as indicating Graves disease or something - and even when the more common thyroid malfunctions were ruled out, it was considered more likely that I had a condition called Resistance to Thyroid Hormone than thyrotropinoma. But no, my body had picked the most unusual way it could think of to break down, and I was neither a horse, nor a pony, deer, mule, donkey, nor any one of a number of hoofed creatures which are more common in the UK than zebras.

Neighbours of Lord Rothschild may not only have expected to see zebras when they heard the sound of hoofbeats, but also had to leap out of their way.
Medical zebras are a tricky subject, on the whole, and there's obviously a balance to be struck. While it can be frustrating for those of us with unusual conditions to think that we waited a long time for a diagnosis, it would be far worse if doctors went around ignoring common diagnoses in favour of the weird ones. Equally though, doctors should be aware that just because something's weird and unusual doesn't mean it's not sitting in front of you - as anyone who's come face-to-face with Boris Johnson could tell you.

It's enough to make you wonder how rare your condition would have to be before you were considered a medical okapi...

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*Unless someone had painted a horse to look like a zebra. Which would be a pretty weird thing to do.

**Hint: one of these is not actually a symptom.

Monday, 25 June 2012

IMFW: The (Un)Lucky Yasser Lopez

Incredible news recently of an American teenager who was shot straight through the head by a speargun and survived. After a three hour operation to remove the three foot long harpoon from his brain, he has been up and talking. The 16-year old was shot when his friend was loading a spear gun and accidentally fired it in the process. In an incredible stroke of luck, it missed almost all the major blood vessels in his head and pierced only the right side of his brain, meaning that his speech was unaffected.

Yasser Lopez was conscious and speaking when he arrived at the ER -a good sign, although he later had to be sedated; doctors also had to cut off part of the protruding spear before he could fit into the hospital's CT scanner (the scan images are incredible, by the way - I highly recommend following one of the links to take a look).

The story is reminiscent of the famous tale of Phineas Gage, much beloved of neurologists - and it should be remembered that even when people survive such accidents, they are highly likely to be left with some form of impairment, and follow-ups are critical.

Friday, 15 June 2012

IMFW: The King's Evil

Recently, the UK celebrated the Queen's Diamond Jubilee, marking sixty years of her right regal reign. At some point over the weekend, I made a joke about scrofula - that most historical of diseases - and no-one got it. Now, people often don't get my jokes, and I'm sorry to report that approximately 70% of the time this is because they are Not That Funny. However, the other 30% of the time they are absolutely hilarious, and this was one of those times. Consequently I was forced to the conclusion that either 1.) my friends are, to a man, ardent royalists who refuse to laugh at an old lady purely because she has an unusually heavy and unfashionably metallic hat, or 2.) they didn't know what scrofula was.

And so, in the interests of education, this week's extremely overdue Interesting Medical Fact of the Week will focus on scrofula, a.k.a. the King's Evil, a.k.a. tuberculous cervical lymphadenitis - and how's that for a rapper name?

Scrofula is effectively tuberculosis of the neck, resulting in swollen lymph nodes. In children it is often caused by infections other than mycobacterium tuberculosis, but when tuberculosis is the underlying cause, there are also associated symptoms of fever, weight loss, and malaise. It's a very unsightly illness; the swelling of the neck can become so large that the skin around it ruptures, leaving open wounds.

With the huge decline in tuberculosis rates over the past sixty years, scrofula has become a rare disease, except among the immunocompromised, but historically it was much more common. For hundreds of years in England and France it was commonly believed that scrofula could be cured by the touch of a king,* and indeed monarchs would hold huge events in which they touched hundreds of scrofula patients. From 1633, the Anglican Book of Common Prayer even included a special service for the ceremony, and it was traditional for the monarch to give the affected person a coin. Kings and queens varied in how far they were prepared to go with this tradition, however; although Queen Anne (r. 1702 - 1714) was fond of helping the scrofulous and even touched a young Samuel Johnson, who suffered from the illness, her successor King George I (r. 1714 - 1727) abandoned the practise as being "too Catholic" and also, presumably, too gross.
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*Queens were an acceptable alternative for the scrofula sufferer on a budget.

Monday, 19 March 2012

IMFW: Nodding Disease

For today's Interesting Medical Fact of the Week, we're going to get a little bit Agatha Christie. I love Agatha Christie, because a) I love mysteries and b) I'm an old granny at heart. But in terms of mysterious illnesses, this one takes the biscuit.

So-called nodding disease (or nodding syndrome) was first described in the mountains of Tanzania in the 1960s. Since then, it's spread to areas in south Sudan and northern Uganda. It's an extremely serious progressive disease which only affects children, and it's almost always fatal. There is no cure. And no-one is even sure what causes the illness.

The symptoms of nodding disease include complete and permanent stunting of growth, including development in the brain, which leads to mental retardation. The name of the illness comes from the characteristic seizures suffered by affected individuals, which cause their heads to nod rapidly; the only treatment currently available for nodding syndrome is epilepsy drugs which can help to control these seizures. Extra weird is the fact that these seizures seem to happen most commonly when the child begins eating or feels cold. Children become severely malnourished because they are frequently rendered unable to eat. Many children with nodding disease actually die from falls or accidents like drowning or burning, which they're at higher risk of because of their mental impairment.

At the moment, the hypothesis that seems most likely to explain this disease suggests that it may be linked to river blindness (onchocerciasis), an illness caused by a kind of parasitic worm which is transmitted to humans through the bite of the black fly. Cases of nodding disease are concentrated in areas where there are high levels of infection with the river blindness parasite and it seems there may be a link, although no-one's yet worked out what it is. There may also be a link with low serum concentration of the blood.

There is a little bit of good news. The mysterious illness has attracted some international attention, and this week Uganda opened its first treatment centres specifically for children with nodding disease. At the moment, though, the best they can aim for is to control the illness's symptoms.

Monday, 12 March 2012

IMFW: Don't Be So Prosthetic

After last week's Interesting Medical Fact of the week focused on glass eyes, I decided to stick with a winning theme and move on to a post about prostheses of all shapes and sizes.

BBC News have this jolly picture book of prosthetic limbs throughout the ages, which is well worth a look; my favourite is probably the Ancient Egyptian prosthetic toe; found on a mummy and dating back to at least 750 BC, it's the oldest functioning prosthetic ever discovered. Earlier prosthesis exist which appear to have been crafted to replace missing body parts after death - so that the person could enter the afterlife whole. But the bottom of this wooden toe shows wear and tear, indicating that it was used during the Egyptian woman's lifetime. Big toes support about 40% of the weight on each foot, meaning that losing one can upset your balance and slow you down. Plus, although it's quite possible to walk and move around without a toe, a prosthesis can protect the foot where the amputation occured and may be more aesthetically pleasing. Apparently Egyptologists have been seeking volunteers who've had their big toe amputated to try on replicas of the ancient prosthesis to see if it's effective at aiding balance and walking.

And this wooden toe was so well crafted that it's still attached to its owner's foot, 2750 years later.

Warning: prosthetic toe may not be detachable


Monday, 27 February 2012

Rare Disease Day 2012

It's Rare Disease Day 2012 on Wednesday 29th February, and I am almost as excited as I was for National Pituitary Awareness Month in October. The Pituitary Foundation is supporting Rare Disease UK, and you can find out more about the events on offer and how to get involved by clicking here.


Also, check out this list of 21 rare diseases compiled by the Huffington Post to mark last year's Rare Disease Day. Ok, so some of the conditions they list are really symptoms rather than illnesses in and of themselves, but clearly they've gone for the most sensationalist conditions out there, and more power to them. First illness on the list? Acromegaly/gigantism. Whoop whoop!