- This topic has 5 replies, 4 voices, and was last updated 2 years, 3 months ago by Ferret. This post has been viewed 1118 times
- January 28, 2019 at 7:33 am #8942Sleepy RBDParticipant
I found this information this weekend and thought that some of you might find it interesting. The association of HLA DQB1 0602 to NT1 has been known for years, but here are some updates.
“Almost all patients with NT1 carry the specific human leukocyte antigen (HLA) allele HLA-DQB1*06:02. Genome-wide association studies have uncovered >10 genomic variations associated with NT1….” “Genetics of Narcolepsy”
“Correlation between HLA-DQB1*06:02 and narcolepsy with and without cataplexy: approving a safe and sensitive genetic test in four major ethnic groups. A systematic meta-analysis…” (Science Direct Sleep Medicine Volume 52, December 2018, Pages 150-157) / “CONCLUSIONS: Our data support the preponderant role of HLA-DQB1*06:02 in susceptibility to NT1/NT2 across all ethnicities. HLA-DQB1*06:02 negativity should make clinicians cautious in excluding other diagnoses.” (link to abstract / source)
I have previously posted this link, “Narcolepsy Linked To Genetic Variant: The Sleeping Disorder And Genes Are Linked In Nearly 100% Of Cases”, but thought it might also be relevant to post it here.
Hopefully, some of you will find this information helpful on your journey to find answers.March 16, 2019 at 9:58 am #9476Sleepy RBDParticipant
I came across the link below and wanted to share it along with a few thoughts.
“About 98% of patients with narcolepsy who have an orexin deficiency express the human leukocyte antigen (HLA) molecule DQ0602, whereas only 18%–25% of the general population expresses the molecule.”
“Meanwhile, twin studies suggest that the environment is a factor in narcolepsy, as there is only 25%–33% identical twin concordance in the condition.”
First, my disclaimers…
I am not a medical professional…
In addition, I recognize there are a certain number of people who have the HLA DQB1 0602 marker who do not have narcolepsy and also the information concerning identical twins. With that being said, let’s balance that for a moment with the other information from the link and post above.
“CONCLUSIONS: Our data support the preponderant role of HLA-DQB1*06:02 in susceptibility to NT1/NT2 across all ethnicities. HLA-DQB1*06:02 negativity should make clinicians cautious in excluding other diagnoses.”
I try to post the Science and research and let others draw their own conclusions, so please take the comments below as strictly my thoughts and opinions.
For those who might have come upon this post who are unfamiliar with my story, here’s a brief background. I have symptoms of NT1 and RBD. For me, cataplexy is the symptom that presents my greatest challenge in living with these sleep disorders. Without cataplexy and the fact that it increased in frequency and severity over the years, I probably would have remained undiagnosed. I have acted out my dreams and shown other symptoms of sleep disorders since childhood. My paternal grandmother, father, and uncle had similar sleep issues. Fast forward decades…
As a parent and grandparent, of course, I hope my children and grandchildren never develop this disease; however, if any of them were to show signs or symptoms, the genetic test for HLA DQB1 0602 would be the first test I would suggest to them. I feel strongly about this due to our family history of sleep disorders and also after reading countless other stories of misdiagnoses and years of unanswered questions for so many people. Perhaps I have read too many accounts from others, but I would never want anyone to go through being wrongly diagnosed with ADHD, anxiety, depression, or …(feel free to add to the list).
I am concerned by the wait for additional tests and the potential cost factor that may result due to impending patents and the involvement / interest of large pharmaceutical companies. Based on what is already known, I am left asking…
If one suspects narcolepsy, especially in reference to NT1, what would be the harm in taking a simple genetic test (already available and affordable) which could detect the HLA DQB1 0602 marker? It could potentially help answer a lot of questions one way or the other.March 16, 2019 at 5:44 pm #9496NatdocParticipant
There is absolutely no harm in checking for HLA DQB1 0602 in fact we routinely check in those we suspect of having narcolepsy. We do also check CSF fluid if there is any doubt.
Everyone uses, or should be using the PSG/MSLT for help with the diagnosis, with the understanding that frequently they are unreliable and not reproduceable. If REM episodes do not show up on MSLT the patient is dismissed as negative for narcolepsy, and this may not be the case at all.
I still think that history and careful questioning along with the blood tests we now have available is our best option.
Diagnosing narcolepsy requires a high degree of suspicion on the providers part and insistence on the part of the patient for a proper diagnosis.
In the instance of Narcolepsy with Cataplexy we suggest recording of episodes if possible 9everyone has a cell phone nowadays). What better evidence could be presented?
Thanks for the post and linkMarch 20, 2019 at 8:29 pm #9539NatdocParticipant
Ran across this article recently and thought it provides good food for thought.
http://www.sleepreviewmag.com/2019/03/narcolepsy-2/March 21, 2019 at 8:22 pm #9551JasonKeymaster
@natdoc I wish my immune system would do something useful and kill this damn cold already!
Thank you for the post!March 22, 2019 at 7:57 am #9566FerretModerator
I just went through three weeks of hell with the worst respiratory infection that I’ve had in thirty years. Damn Snowbirds.
I rarely go to a Doctor but this sent me packing. He gave me a shot of Gammaglobulin in the butt to boost my immune system.
I’m all better now.
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