Discussions By Condition: I cannot get a diagnosis.

Thermoregulatory disorder?

Posted In: I cannot get a diagnosis. 8 Replies
  • Posted By: Makris
  • February 14, 2009
  • 01:13 AM

Hello, I have a condition that looks like a thermoregulatory disorder, but it currently has defied diagnosis.

In cold environments such as airplanes, excessively air-conditioned rooms or outside in cold weather I sometimes get what appears to be (mild) hypothermia. The symptoms are that I feel my body temperature dropping, and if I don't or can't respond quickly I am swept by waves of shaking (not shivering).

This shaking is hard to explain, as it doesn't prevent me from physically moving, but every movement generates another wave and it is the most unpleasant thing I've every experienced (and I've passed kidney stones before, if you need a benchmark!). I'm effectively incapacitated during this time, and it takes several hours to pass. My body begins to reheat itself slowly (I'm pilled under a ton of blankets, still clothed with heaters and electric blankets on at this point), then I begin to overheat and sweat, but I still can't move because of the shaking. So, a bit like a fever, I'm cold and hot at the same time. A friend of mine who witnessed a whole episode once said it reminded her of a diabetic "hypo" (but I've been tested for diabetes, so it isn't that).

Other symptoms are that I don't shiver when I get cold, and friends tell me my hands are hot at the beginning of an episode. My hands very rarely ever get cold, even when I feel very cold. This makes me think that my vascular constriction and shiver mechanisms are not working properly. I'm now 45, and this condition has got a lot worse in the last 10 years: I had a much milder version of it when I was younger (when I used to shiver and my hands got cold). My father also has the same condiiton, although he has the mild version.

I live in London (UK), and have seen a number of specialists about this, but they can't work out what is going on, although they do agree that it appears to be a thermoregulatory issue (rather than, e.g. some mostly dormant exotic disease).

Any help would be greatly appreciated.

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8 Replies:

  • I couldn't work out how to edit my post, so I thought I'd just add that I am male, and of Greek ethnicity, as this might be relevant.
    Makris 5 Replies
    • February 15, 2009
    • 10:26 AM
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  • Okay, this phenomenon is known as Shapiro syndrome and occurs due to an abnormality at the preoptic anterior hypothalmic region. The reason that you demonstrate a more florid presentation than your father is due to a genetic predisposition known as anticipation. Anticipation in basic terms represents an amplification of any genetic flaws demonstrated in the offspring from the parents possessing the same abnormality. Treatment with anticonvulsants such as Lamictal have demonstrated some success, as well as muscarinic antagonists like Oxybutynin. My suggestion is to speak with your doctor and discuss the alternatives available to you but a low-dose trial of Lamictal or other anticonvulsant would be a good starting point. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • February 15, 2009
    • 01:58 PM
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  • Thanks very much for the response. Do you have a reliable list somewhere of the symptoms of Shapiro syndrome? The reason I ask is that I thought the syndrome involved spontaneous hypothermia, but mine is definitely only brought on by cold environmental temperatures. I just want to get the facts straight before I go back to the doctor. P.S. I've seen two general physicians, a professor of endocrinology and a professor of neurophysiology about this in the last few years, plus had a broad array of tests including a brain NMR scan.
    Makris 5 Replies
    • February 15, 2009
    • 03:18 PM
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  • I also just wanted to clarify the relationship between the feeling cold and the sweating (I can't seem to edit my previous post so I have to post this separately). An episode starts off as feeling cold, very cold, and this continues on for some time without any sweating. Eventually I get myself into some reheating situation, like in bed as I described. Even though I can reheat to a point where I am sweating profusely, after an hour or so, any kind of movement still brings on the shakes (which I equate with feeling cold, but strictly speaking it is not I suppose, although I feel the shakes to my core) and this odd situation can maintain for a few hours, although it slowly normalises over that time. One other symptom that is probably worth mentioning is that my heart begins to race at the same time I feel my temperature initially dropping.
    Makris 5 Replies
    • February 15, 2009
    • 05:12 PM
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  • (Curse this 15 minute post editing rule!) Also, in a previous post, when I say it is only brought on by cold environments I should clarify this by saying that cold environments below a certain temperature (the specific temperature varying only relative to the warmth of my clothes) are both a necessary and a sufficient condition for an episode: that is, I always feel at risk in environments below a certain temperature, and I never feel at risk in environments above that temperature.
    Makris 5 Replies
    • February 15, 2009
    • 05:37 PM
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  • Thanks for your reply blaze, and I'm sorry to hear about your condition. Cold environments are a sufficient and necessary condition for my episodes as far as I can tell. For that not to be the case there would have to be some other variable that I did not notice that was always present just when it happened to be cold, and absent when it was not. EM radiation does not seem to fit this. I live in central London, and am continually bathed in a sea of EM, both when it is warm and when it is cold. I've also been to what I imagine are low EM environments, such as out in the middle of the country, and felt at risk. This is my experience every day for more than 10 years, so I feel that it is robust. So, EM would be very unlikely to be a cause. P.S. Electric blankets are my best friends!
    Makris 5 Replies
    • February 17, 2009
    • 07:12 PM
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  • My wife has a different type of this disorder. She suffers from recurrent, unpredictable, bouts of fever, up to 39.8 degrees centigrade. She is now 61, has had this problem for three decades, but the frquency has increased to 2-3 times a week. No associations, such as weather conditions, ambient temperature, physical activity, but only in the daytime. She then needs to lie down, defervesces spontaneously within a couple of hours and feels very weak for another 3 or 4 hours; which, of course, severely disrupts our plans and daily activities. Her medicines are Acetaminophen with Codeine #3, for frequent headaches, Salmeterol and Zafirlukast for asthma, Hydrochlorozide 25 mg for mild hypertension, Simvastatin and occasional Diazepam 10 mg. A brain MRI and an abdominal CT were normal.
    Anonymous 42789 Replies
    • February 17, 2009
    • 07:49 PM
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  • Good afternoon, I have a son with 10 years who suffers from spontaneous periodic hipotermia (syndrome of shapiro) 8, the temperatures already had arrived to lower 32,8º, the doctors no matter how much they have attemped do not find nothing that can help it, at least in Portugal will be here that they can help my son. It only wants to be a normal child. Debtor
    Anonymous 42789 Replies Flag this Response
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