HYPERHIDROSIS AND GENETICS
Neil Shah is a recent graduate who majored in genetics and is putting his studies to great use by raising awareness for the little understood and talked about condition of hyperhidrosis, a condition which he is personally affected by
Imagine being a seven-year-old kid that loved art but ended up ruining his outline, as it would always smudge.
Or running in the scorching heat towards the crease about to pitch a cricket ball, only to see it slip out of your hands and far away from the batsman.
Or being afraid of holding hands with your seventh grade ‘girlfriend’ because what if it is embarrassing and she told everyone that your hands were the physical embodiment of the Niagara Falls?
Yes, I know what you’re thinking dear reader...is this something to do with ‘excessive sweatiness’?
Well, you guessed correctly, and the ‘excessive sweatiness’ is referred to as hyperhidrosis in medical terms.
Sweat is essential to human survival and serves as a coolant in the body. However, in people who have excessive sweating or hyperhidrosis, the sweat glands overreact to stimuli and produce more sweat than is needed by the body.
There are two types of hyperhidrosis: primary focal hyperhidrosis (accounting for 93% of the cases of hyperhidrosis) and secondary generalized hyperhidrosis (accounting for the other 7%). Primary focal hyperhidrosis is influenced by a person’s genetic makeup while secondary generalized hyperhidrosis is not heritable, but is instead caused by medication or an endocrine disease that leads to excessive sweating. As someone that has primary focal hyperhidrosis (i.e. the genetic kind) and is an avid advocate for it on social media and a member of the International Hyperhidrosis Society, I would like to describe the genetics behind primary focal hyperhidrosis along with what it’s like to live with this condition in today’s world.
Primary focal hyperhidrosis usually occurs between the ages of 14-25. Patients with this type of hyperhidrosis experience excessive sweating on certain focal areas of their body. Sweating is mostly experienced on the armpits, hands, feet, and face.
There is evidence that primary focal hyperhidrosis is inherited in an autosomal dominant fashion. In such an inheritance pattern, one parent is unaffected while the other parent carries a dominant gene for hyperhidrosis. The genetics behind this translates to a one in two chance of getting hyperhidrosis.
Hyperhidrosis autosomal dominant inheritance pattern - representing a one in two likelihood of inheriting hyperhidrosis with an affected parent
The specific genetics involved in the development of hyperhidrosis are still not entirely well understood, which is why scientific research in hyperhidrosis is so important today. However, as recently as 2019, it has been reported that there may be a genetic link for hyperhidrosis on chromosome 14. Three family genetic linkage studies on hyperhidrosis have been performed: one in Italy, one in China and one in Japan. While the Japanese linkage studies found families that had linkage to loci on chromosome 14 (14q11.2-q13), the Italian study examined the same loci but found no linkage. Similarly, in the Chinese study, no such association could be found. Nevertheless, all three studies identified an autosomal dominant pattern of inheritance with varying levels of penetrance. Hence, while no ‘true’ genetic causation for hyperhidrosis (related to a particular locus on a particular chromosome) has been established yet, scientists find it very likely that hyperhidrosis is an autosomal dominant condition with variable penetrance.
Some of the treatment methods used for both types of hyperhidrosis include medications and surgical procedures. The medications include prescription antiperspirant, prescription creams, nerve-blocking medications and Botulinum toxic injections (such as Botox). The surgical procedures include sweat gland removal and nerve surgery (sympathectomy).
Living with hyperhidrosis is more often than not a significant burden on the patients. While this disease is not fatal like cancer, it causes a great deal of stress and embarrassment in daily life. It is rather unfortunate that this condition is not taken as seriously by many people who think the condition is completely psychological.
I have often had family members come up to me at family functions, and after an awkward, wet handshake and my ‘customary’ apology for having sweaty hands tell me that I should “stop stressing” about things in life so that my hands don’t sweat. What they fail to understand is that stress is also a symptom of hyperhidrosis because of the discomforting experiences it puts a patient through.
Image source: International Hyperhidrosis Society
It is thought that a higher percentage of people may have a familial link to hyperhidrosis than is currently known because people tend to under report symptoms due to embarrassment and stigma. Nonetheless, the fact that there is so much more hyperhidrosis activism worldwide today than there was ten years ago and that medical research in hyperhidrosis is improving each day makes me proud and optimistic about the future of this condition. I am glad to advocate for the rare genetic disease of hyperhidrosis to the extent that I look forward to continuing my role in advocacy through a career in genetic counseling.
I look forward to the day when young kids worldwide aren’t embarrassed of having hyperhidrosis, unafraid of whether or not societal stigma around the condition persists. After all, us hyperhidrosis folks: we have the disease, the disease doesn’t have us!
And as for me…well, I’m sweaty and I know it!
Written by Neil Shah
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