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Exploring the Genetics of Excessive Sweating
One of the most commonly shared side effects among people living with hyperhidrosis is isolation. Those with excessive sweating often relegate themselves to the fringes of daily interactions to minimize social contact and to hide their excessive sweating.
Paradoxically, the disease's dynamic shows a strong human connection: a hereditary component that can link family members with excessive sweating across generations. We can see the connection, but we have a great deal to learn about the full genetic story behind hyperhidrosis.
The value of understanding this element of hyperhidrosis is that, by identifying the gene or genes responsible for excessive sweating, we may be able to find a way to control or even cure it. Genetic counselor Betsy Vibert and her research team began collecting DNA samples from people who have hyperhidrosis in 2004 in order to explore this genetic connection.
The IHHS works closely with Vibert and her colleagues, educating our community about her ongoing research and recruiting and encouraging our members with excessive sweating to participate in the study.
What do you need to do to donate a DNA sample? First answer a few questions to determine your eligibility. If you are eligible, you'll be asked to fill out a HIPAA form and an informed consent. You'll also complete a medical and family history.
The DNA sample will come from cells in your mouth. Buccal cells are obtained by rinsing the mouth with Scope mouthwash and spitting into a small container. Kits are sent through the mail and a stamped, self addressed envelope is provided for the return of the study materials.
Ideally, volunteers will have another person with excessive sweating in their family, but isolated individuals are also accepted. We encourage all who are interested to volunteer a sample of their DNA to be a part of this historic research.
Perhaps the most challenging aspect of Vibert's research came at the very beginning. Before they could even begin, the research team needed to answer a question we get from our readers everyday: what constitutes hyperhidrosis?
It was always understood that in order to identify the gene or genes responsible for hyperhidrosis, the study design would require a very large pool of patient samples (larger still because the study population would include hyperhidrosis sufferers and their families).
To facilitate access to a larger portion of the hyperhidrosis population, a uniform standard of defining and assessing excessive sweating would be necessary. Thus, designing an assessment questionnaire was a crucial first step in the team's research.
Vibert says that after "rigorous testing, we're very pleased that the questionnaire was extremely reliable." An article about the design and formulation of the study's questionnaire was published in June this year in the journal Clinical Autonomic Research.
Because the questionnaire provides a standard assessment of hyperhidrosis, the research team can collect DNA data from an unlimited geographic pool of volunteers through the mail.
How does your sweating rate? Here are some preliminary questions to establish hyperhidrosis.
Has a doctor ever told you that you have "Hyperhidrosis"?
Do you experience excessive sweating when you are not overheated or in an anxious state?
Do you experience a sudden increase in the amount of sweat from your hands or feet when stressed?
When you walk barefoot, do you leave puddles on the floor?
Do you have any immediate biological relatives who have been diagnosed with hyperhidrosis?
If you answered "yes" to any of these questions (and you live in the US) you are probably eligible to participate in this study.
We recently checked in with Vibert to get an update on some of the study's preliminary findings. She reports that, while a few pieces of the puzzle are falling into place, many more remain.
"We have definitely collected sufficient data to allow us to conclude that hyperhidrosis is a much more complicated disease than previously thought," said Vibert, adding that its effects manifest differently in every person.
Despite this generational variety in the nature of excessive sweating, Vibert points to one emerging trend that does show some uniformity across generations. "In many families, the anatomic area affected by excessive sweating tends to be consistent within a family. For example, some families have mainly palmar/plantar sweating, while others have primarily facial symptoms."
This development has led Vibert and her team to believe that they need to continue to expand recruitment efforts. "It may be necessary to group families by the anatomic region(s) affected by excessive sweating for analytic purposes. So instead of needing 200 families overall, we may require 200 families for each of the anatomical regions affected by hyperhidrosis in order to obtain statistically significant results."
There is still much research ahead, but as of June 1, 2009, the study included 1044 participants who have completed questionnaires and submitted DNA specimens. This includes 709 participants who are affected and 335 unaffected family members of hyperhidrosis sufferers. There are 244 families who currently have at least 2 participating family members in the study.
You can stay current on all of the scientific research in hyperhidrosis by visiting our Research section. Physicians and clinicians: if you are working on trials, this section is a great place to recruit patients! Email us at info@SweatHelp.org if you'd like to learn more about this unique option.
It is a true gift to have people like Betsy Vibert in our corner, using the power of science to make a real difference in people's lives. She even took some time this spring to present her research at one of our continuing medical education seminars, an effort that brought encouragement and inspiration to all attendees.
For the doctors and healthcare providers who are already so committed to improving the lives of their hyperhidrosis patients, it is gratifying to see the scientific community dedicating time and resources to a cause they care about deeply.
We anticipate a lot of answers to the questions we all have about excessive sweating in the coming years. Stay tuned for updates; and, if you qualify, sign up to take part in this research. Future generations (including your children) will thank you!
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