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Altitude sickness and genetic testing

5:50 p.m. on June 12, 2012 (EDT)
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Saw this a while back and don't think I posted about it. Apparently there has been successful genetic testing that have isolated 6 genes that predispose individuals to becoming sick at high altitudes.

The study initially may have been funded and inspired by the military, who wants to make sure that soldiers they train won't become sick in mountainous regions.

The study states that they have been able to predict susceptibility to AMS, HAPE, and HACE with 90% accuracy based on the 6 genes they isolated. Also, the technology and testing may be available to the public in the next couple of years. This could save some people a lot of money if they know from the test that they will easily get sick.

http://www.scientificamerican.com/article.cfm?id=genetic-tests-for-altitude-sickness

10:31 a.m. on June 13, 2012 (EDT)
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I have never had trouble at altitudes up to 12k feet but I think I might get this test if it is affordable.  It could save me a lot of money trying to do something I might be genetically predisposed not to do. 

9:26 p.m. on June 13, 2012 (EDT)
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I was a guinea pig in two studies of this a few years back, and turn out to be one of the lucky ones with the 6 "magic genes". I have never gotten AMS or its more severe forms (HAPE and HACE) at altitudes up to 20,320 (Denali) or the other high peaks I have been on (Vinson, at 16,050, but with the latitude effect, equivalent to about 19,000 at the equator, and close to the Equator on Kilimanjaro at 19341, and more recently, Vallanaraju at 18,760). On last summer's trip to the Cordillera Blanca, our expedition doctor took frequent blood pressure and blood oxygen saturation at various altitudes for all expedition members. I was consistently one of the two highest SpO2 (high 90% range at each test) in the group (as the Doc put it, better than most of the young pups). The expedition did have several members who got AMS, including a couple I know of who got HAPE.

Now, a caution - what this means is that I acclimatize more rapidly and more readily than most of the population. It does not mean you could helicopter me to the summit of Everest and land me there without prior acclimatization or supplemental oxygen. I still have to follow the "climb high, sleep low" regimen and move my sleeping altitude up gradually (though faster than the "standard" average of 1000 ft a day above 10,000 ft). And at my advanced age, I probably would not be able to summit Everest without supplemental oxygen (probably too slow anyway).

Be aware that a small percentage of the population has a difficult (or maybe impossible) time acclimatizing above 9000 or 10,000 ft. I know several people who have this problem, including one who used to be active on Trailspace and my Primary Care Physician. Some people benefit from using Diamox prophylacticaly or as a treatment when they start getting AMS. Also, two of the ED drugs benefit some AMS sufferers, and according to a recent study, ibuprofen alleviates the some of the symptoms of AMS (but not the more severe forms).

10:07 p.m. on June 13, 2012 (EDT)
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I didn't have any lung or head problems up to 17,500. I had the other issue of not being able to eat....at all.....really....but no headaches or other symptoms that prompted some to use Diamox.

7:40 a.m. on June 14, 2012 (EDT)
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giftogab said:

I had the other issue of not being able to eat....at all.....really...

Odd.  Do you mean lost appetite or eating lead to unpleasant consequences?  I once had a bout that lead me to puke, but was fine afterward.  Might have been what I ate, and not AMS.
Ed

8:34 a.m. on June 14, 2012 (EDT)
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No, it was what OGBO referred to as Altitude Induced Anorexia. I would try to eat but no bueno. Later, a doctor told me more about the physiology of it. I was consuming about 500 calories a day and burning about that much an hour resulting in absolute exhaustion and a heli evacuation from 17,500 feet at Base Camp. There are other effects after return to lowlands....a thing called dumping syndrome. I wont say more about that. But between Bill and the doc, it was clearly explained and understood.

10:48 a.m. on June 14, 2012 (EDT)
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Altitude Induced Anorexia

Might do me some good. 

I'm sure though, having been through it in person Gab you'd disagree.   

3:41 p.m. on June 14, 2012 (EDT)
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a practice banned or frowned upon in competitive sporting events, blood doping or the use of EPO, can be a helpful process in acclimating before even stepping on the mountain. There are of course, dangers, to increasing the number of red blood cells flowing through your body, but when EPO is being used, they can keep a pretty accurate measure of where your body is at and keep it from becoming dangerous.

Then when you step on the mountain you are effectively already acclimatized, but while still proceeding with caution will find less of the negative side effects one usually encounters while climbing high and sleeping low.

12:07 a.m. on June 15, 2012 (EDT)
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iClimb said:

a practice banned or frowned upon in competitive sporting events, blood doping or the use of EPO, can be a helpful process in acclimating before even stepping on the mountain. There are of course, dangers, to increasing the number of red blood cells flowing through your body, but when EPO is being used, they can keep a pretty accurate measure of where your body is at and keep it from becoming dangerous.

Then when you step on the mountain you are effectively already acclimatized, but while still proceeding with caution will find less of the negative side effects one usually encounters while climbing high and sleeping low.

I respectfully disagree that to start taking the Diamox before going to altitude will effectively acclimatize you. Virtually all of the information given up "there" was do not start taking it until you are at altitude and only of there are symptoms that taking the drug would assist in reducing. We were told over and over that it would help us if sleep better at altitude and build some needed reds, but was no replacement for time at altitude.

3:04 a.m. on June 15, 2012 (EDT)
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Re: Altitude Induced Anorexia: On a 2009 climbing trip to the Alps i effectively went from my house to 3500m in something like 36 hours, via a flight to Geneva, a stay overnight in Annecy, a drive through Chamonix and the Mont Blanc tunnel to Italy and up a valley near Monte Rosa, and then a hard afternoon hike from about 1700 m to a hut at 3500.  I really had to force feed myself that night, and still couldn't finish my pasta. But when we got up at 4 AM for our alpine start I was able to eat more normally and felt pretty much OK when we started climbing. So even though 3500 isn't all that high, I'd say the rapid ascent definitely got to me, at least in the short run.

Way back in 1980, I also suffered some combination of altitude sickness and hypothermia after camping at somewhere near 5000 m near the Thorong La, the main pass on the trekkers route around the Annapurna Massif in Nepal. I went into a sort of semi-hallucinatory state but was aware enough to shuffle at about half speed back down the long trail to Manang that I had come up the day before. I was in good shape and had pushed the recommended acclimatization schedule, thinking maybe I was an "altitude natural" like the OGBO -- but I'm not. I went over the pass no problem a few days later with a group of people I met in Manang, but we all pitched in to hire a couple of porters to lighten our loads on the way up.

6:22 a.m. on June 15, 2012 (EDT)
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giftogab said:

..Virtually all of the information given up "there" was do not start taking it until you are at altitude and only of there are symptoms that taking the drug would assist in reducing...

I believe these were the same conclusions reached by Charles Huston in research he conducted during his Denali high altitude research projects conducted decades ago.

Ed

2:33 p.m. on June 15, 2012 (EDT)
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whomeworry said:

giftogab said:

..Virtually all of the information given up "there" was do not start taking it until you are at altitude and only of there are symptoms that taking the drug would assist in reducing...

I believe these were the same conclusions reached by Charles Huston in research he conducted during his Denali high altitude research projects conducted decades ago.

Ed

 That's Charles Houston. When I finally met him in the 1980s after reading a lot of his books, I found out he pronounced it "house -ton" like the major street in Atlanta, GA, not "hews - ton" like the city in Texas (and the way Sam Houston pronounced it). Houston's major book on altitude is "Going Higher", with a recent update by one of his collaborators.

The other major high altitude studies were carried out (and continue to be carried out) by Peter Hackett. Hackett has several very readable books on altitude, including a nice pocket-sized summary "Mountain Sickness - Prevention, Recognition and Treatment", published by the American Alpine Club.

"The Altitude Experience" by Farris is also good, as are the sections on altitude in Paul Auerbach (and collaborators) 11-pound "Wilderness Medicine" (also available as an app for your iPad, including links to all the original articles in the medical literature) and his shorter "Field Guide to Wilderness Medicine".

By the way, note that I said that I am in the lucky group that adjusts more rapidly to altitude, not that I am an "altitude natural". Some of us adjust rapidly, and some don't seem to adjust above 10,000 feet at all. As mentioned Diamox and other meds are not "magic" - they do have side effects. As Ed probably knows, in the Andes, where the coca tree is native, people chew coca leaves and drink coca tea to stave off altitude effects. Some claim to get great benefit. Our expedition doctor last summer did a lot of searching through the literature and found no support for coca aiding acclimatization - climb high sleep low and move your sleeping altitude up an average of 1000 ft/day still works best for most people.

3:49 p.m. on June 15, 2012 (EDT)
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gift - not diamox. EPO. It does the same thing to your blood that acclimatizing does. Produces more red blood cells to carry more oxygen, which is the same thing atheletes previously did by working out hard at high elevations, giving themselves a blood transfusion at lower altitudes, and then they have a higher cardio endurance.

 

Basically EPO is a protein that naturally occurs in your body already, but by taking these shots you signal your bone marrow to create greater number of red blood cells. More RBC means more oxygen in your blood because RBC carry the oxygen.

6:01 p.m. on June 15, 2012 (EDT)
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iClimb...thanks for the distinction/clarification. Glad I undserstood teh Diamox and glad I learned something new at the same time!

9:14 p.m. on June 15, 2012 (EDT)
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yes you understood Diamox quite well, as you said it only treats symptoms after they have started and helps reduce them.

6:28 a.m. on June 16, 2012 (EDT)
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Bill S said:

That's Charles Houston...
.. As Ed probably knows, in the Andes, where the coca tree is native, people chew coca leaves and drink coca tea to stave off altitude effects. Some claim to get great benefit...

Don’t know how I let that name spelling error pass. Thanks for correcting me, I knew better.  I heard Houston speak once, and remember the pronunciation of his name when he was introduced.

About coca leaves:  I am married to a Peruvian, giving me the opportunity to learn quite a bit about this topic.  It is mostly an indigenous people’s libation, but some city folks drink coca leaf tea, claiming benefits similar to green tea.  Coca leaf chewing in Peru predates the Spanish conquest.  None of the Peruvians I talked to mentioned they used it for alleviating symptoms related altitude sickness, though they said they it is alledged to have that property.  When you think about it, such application doesn’t make much sense anyway, since the overwhelming majority of the population has no interest in high altitude travel.  Those who live high up are already acclimated; and most people don’t traverse in and out of the higher elevations an a regular basis.  The four things they say coca leaves did were serving as a mild euphoric, relieving headaches, and deadened hunger pangs and sensations of being cold.  I tried chewing leaves, and found it made my mouth feel like nicotine to a nonsmoker, was slightly stimulating like a cup of coffee, and it deadened my appetite, but I did not notice any other significant sensations.  In case the curious aren’t aware, the alkaloids that give cocaine its narcotic effects are present in too low of concentration in the leaves for one to obtain a high or get addicted chewing the leaves.  Hence coca leaves are sold over the counter in Peru, but cocaine is a controlled substance.

Ed

8:20 a.m. on June 16, 2012 (EDT)
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well let's see, cocaine comes from the coca leaf...

cocaine is a TRI a triple reuptake inhibitor which is why it's so addictive and intoxicating. Put plainly, it makes people feel good, at least until they become addicts, abusers, and dependent on it. But in a non-concentrated form, coming directly from the leaf itself, without chemical additives, I'm sure it has an effect on how someone feels. I know cocaine is also a topical analgesic. 

All of these effects must be effecting people, especially if they are at altitude, and maybe it lessens some of the symptoms or ill-feelings??

I feel compelled to say, as someone who provides counseling to people daily who have struggled with substance abuse, that I'm not promoting the use of cocaine or trying to say that drug use is beneficial.

3:19 p.m. on June 16, 2012 (EDT)
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I would be real interested in this test.  I always wonder how I would do at altitude.  I have been to about 11,000 feet in Colorado, and other then being dog tired and sometimes getting a headache I have had not other issues.  But from what I understand it's from there up that the stuff really starts to happen. 

I have two minor hart conditions that I was born with, they have never really effected me unless I do something really stupid like get massively dehydrated, but then that effects most people in some way. 

Bill S, and any others, how would I go about testing if altitude is a issue for me?  I really want to do the JMT next summer, or maybe this summer and I would have to cross 12,000 foot passes and then to the top of the trail at, what 14,600 or something?  Not really asking for medical advice, just wanting to know if their is a way to "try it out" before I actually do it. 

Wolfman

4:32 p.m. on June 16, 2012 (EDT)
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Wolf. It is really just a JUST DO IT thing. Stop and go back if it is too uncomfortable. Bring Diamox if you think it would help with the milder issues and assist in sleeping at altitude, but I think you really just go. Consult a physician with regard to the specific heart issues you have. I would find one familiar with the rigors of altitude, not just one that knows the concepts.

10:39 p.m. on June 16, 2012 (EDT)
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wolfman - I have seen advertisements for companies that (at a cost) provide you with an altitude experience in a laboratory setting. I believe it is simply a hyperbaric chamber. I'd try doing an internet search for something in your area.

here's one nationally recognized company that I found with a quick search that has been contracted by the Navy to train pilots and soldiers. The company claims that their chambers can simulate as high as 30,000'.

http://altitudetraining.com/

11:47 a.m. on June 18, 2012 (EDT)
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Missionary friends of mine who spent time in Peru said that cocoa leaf tea really helped them adjust and function at the insane altitudes there.  Chewing the leaves straight, they told me, was kinda nasty. 

If I went there I am sure I'd try thre tea.

6:28 p.m. on June 18, 2012 (EDT)
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Cafeine helps with headaches in general. Perhaps that is what is happening.

11:16 p.m. on June 18, 2012 (EDT)
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FromSagetoSnow said:

Missionary friends of mine who spent time in Peru said that cocoa leaf tea really helped them adjust and function at the insane altitudes there.  Chewing the leaves straight, they told me, was kinda nasty. 

If I went there I am sure I'd try thre tea.

 

Simply hanging out at altitude tremendously helps almost everyone better tolerate living high up, especially at the (<14K') altitudes where civilization inhabits.  Unless your friends were mountaineers that climbed on their days off AND set up controlled experiments that compared the effects of altitude with/without coca leaves, I cannot imagine how they could determine if their welfare was the result of coca leaves, better hydration, or accumulated time spent adjusting to the height.

Ed

April 21, 2014
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