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Joan Crawford
Joan Crawford of Ringwood, N.J., bundles up against winter to prevent triggering her allergy to cold. Disease experts say they've found new clues to the genetic basis of cold allergy and related disorders in three families.
The first time the hives hit Joan Crawford, a 76-year-old administrator from Ringwood, N.J., she was heading to a party in New York City with her husband.
"I remember we were walking west for about three blocks and it was very cold and the wind was hitting my face," she says. "And by the time I got to the function, my entire face was swollen. It took about 20 minutes of warm compresses to bring the swelling down."
The next day, her doctor informed her she had cold urticaria -- hives brought on by cold temperatures -- a condition Crawford had never heard of.
"I told him, 'I think you just made this up," she says. "Whoever heard of being allergic to the cold?"
While the condition is a puzzler, a handful of investigators at the National Institutes of Health recently conducted a study on three families suffering from the condition. The scientists were able to identify a genetic mutation that causes not only their cold urticaria, but also other symptoms including immune deficiency and autoimmunity and inflammatory skin disorders.
"The people in these families had cold urticaria from birth and cold environments could trigger hives as would evaporation," says Dr. Joshua Milner of the Laboratory of Allergic Diseases at the National Institute of Allergy and Infectious Diseases (NIAID).
"If they had wet skin and air blew past it, that would really trigger the cold symptoms. If they hopped in a cold swimming pool, they'd have a big problem. There was even a baby who at two weeks was put into a baby swing and the breeze from the baby swing made the baby break out in hives."
In addition to cold urticaria, the 27 people Milner and his disease detective colleagues studied suffered from a host of other conditions including food allergies, asthma, infections, rashes and granulomas, or small pockets of inflammation.
"Because it was running in families, we were able to map the gene and then the region that it mapped to and, lo and behold, when we sequenced the gene, we found that a small, small, small piece of DNA was missing," says Milner.
As a consequence of this missing DNA, the gene in question (known as PLCG2) was "turned on" all the time, causing antibodies to respond in an abnormal fashion.
Researchers dubbed the genetic mutation PLAID, for PLCG2-associated antibody deficiency and immune dysregulation.
"We called it PLAID because it's a complex pattern of symptoms, just like plaid," says Milner.
Not all people who suffer from cold urticaria have PLAID. Crawford, for instance, isn't sure whether she does because she's never been tested. But Milner says those who do have it may one day be able to get help for their condition.
"There are inhibitors out there to inhibit this gene," he says. "So potentially, we could treat these patients after further research is done."
In the meantime, Milner says people with cold urticaria may want to talk to other family members to see if they suffer from any of the related conditions that are part of the PLAID "fabric".
"The reason we found this was because these were big families and they realized within their nuclear families that they had the same thing," he says. "They held the key, but they didn't realize what everybody else had. They didn't know what was going on with their cousins. It wasn't until we got all the elements of history aside from the cold urticaria -- the business with the rashes and the infections -- that we realized other people had it.
"It was the cold urticaria that allowed us to do the linkage analysis, but we wouldn't have been able to identify the gene in that location without knowing about all these other issues going on."
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Leave a Comment:
I always suspected that it was the cold winters that always make me sick because i only get sick when the weather is cold for more than a month. But i thought that was because the cold inhibited the functions of my immune system, it never occured to me that genes could be the cause.
My theory is we where programed thousand of years ago to these screwed up genes so we can live on this planet. If you read the bible they lived 300 to 400 years old the world there would be way to many people on earth so someone took some of those genes out to make us only live so long and to be able to die off , that way we could keep the earth from over following with humans. Now we got to look at this in another way we need to get back to 300 to 400 years or more or we will never be able to leave this planet and explore new places to live , because the rate we are going we will need a new planet . Joe
Nice fantasy BS, Joann, but try reading an 8th grade biology textbook sometime. If that's not beyond your reading level.
I have this. I only have skin allergies. I only get it in a pool...or getting out of a pool. It goes away when I warm up....typically with a sweatshirt and jeans in the summer if a place is air conditioned. I get big red welts all over and a very runny nose.
This gene mutation has FINALLY getting some attention...the disease is called CAPS. My daughter & I were just diagnosed this past fall and are now taking shots every 8 weeks of ILLARIS. Believe me, if you suffer with any of these symtoms discibed in this article, it's worth looking into. It is not all in your head!
My Grandma was actually diagnosed with this. She is now 79 and the symptoms aren't quite as bad as they used to be, but we live in the midwest and Grandpa always has to warm the car up in the winter before they can go anywhere. It makes her into a hermit in the winter.
I have the opposite problem. I have horrible symptoms in the heat. I had cholinergic urticaria (caused by heat instead of cold). The doctor put me on heavy antihistamines, which eventually cured the urticaria, but now in the summer, my joints ache, my food allergies are more severe, and I don't have a period. It's strange, but no one can figure anything out. Maybe I need to be a pilot study for NIH.
I suffered from a mild form of this as a preteen and teenager. My pediatrician didn't know what it was, and I couldn't reliably recreate the symptoms to have him examine me. The swelling and itching - usually on extremities such as my toes, fingers and earlobes, but sometimes on my legs if they got cold enough - was excruciating for about 20 minutes. It took us awhile to figure out that WARM compresses provided relief. Eventually, I outgrew it and didn't give it much thought until my mother developed a more severe case of cold uticaria after dealing with some post-surgery health issues. She too has lost her sensitivity, but now this article makes me wonder if our allergy is related to something genetic.
Both my mother and Daughter have this. My sister is allergic to the sun. Wierd family.
My mother-in-law has this. It is interesting because a lot of people in the family have sesitive skin and excema, including my step-daughter. There is also a high breast cancer rate in the family. I wonder if there is a link there?
While living in Wisconsin, I would break out in severe hives when I got cold. It would also happen during the summer, while swimming in the lake. I have since moved to Co. and have never had a problem. I've always wondered why the difference?
I don't think this could truly be considered an actual allergy. Allergies are reactions brought about by immune cells targeting and attacking any debris they deem foreign. Pollen, certain proteins in food, pet dander, etc. are true allergies because the immune system is functioning.
Temperature is not something that causes your immune cells to react. There is no foreign material in temperature, nor is there a foreign material in sunlight. It is in fact not possible for someone to be "allergic" to sunlight or to cold weather.
Actually the body is responding with immune cells targeting the body due to the cold. The gene that is missing the dna is always on, and the body responds by sending antibodies (immune cells) to the skin, and the hives or other symptoms appear
. The immune system is involved.
I have been diagnosed with cold angiodema. I go into allergic shock from cold water, especially if I get it on my head. I have a lot of allergies as well.
My husband also has this disorder, it having come up while he served in the military, and was exposed continuously to cold and wet ground and weather. Even coming out of the shower he has the problem, or coming in from outside, even if the temperatures are moderate. If there is a temperature difference between inside and outside, it occurs every time. It's nice to know that perhaps there is an answer to the issue.
I was diagnosed with cholinergic urticaria, which is sensitivity to sudden temperature changes (i.e...hot to cold, cold to hot) and it drives my skin crazy. I also have Aquagenic Pruritus, which is a sensitivity to water. Not just plain water....when my body sweats (thank the Lord I sweat very little due to medication) it becomes terribly irritated. The humidity will also set it off and I live in South Texas where it is almost always humid. But moving anywhere is not an answer for me because as most of us, I have so many other allergies.
I do use a lot of Sarna and a few other lotions but Sarna was suggested and it really works best for me. But the end result is, just learning to accept it and live with it. I'm fortunate that there are days when I don't have to leave the house if I choose not to (due to bad weather). Sometimes this is the best way to go. Close the windows and keep the bad weather out! Most of the time, I take a shower every other day. The body doesn't need to be showered daily. After many years of living with these things, one must learn ways of doing things differently. Just start thinking "outside the box" and you can figure it out.
Good luck everybody!