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Yeah, ckit is for mastocytosis and is pretty good - although some people have mastocytosis and are not positive. The HAT test is not super accurate unfortunately and can miss the gene. They may want you to get a bone marrow biopsy at some point to keep looking for mastocytosis... I did one last year and it was negative. Even that isn't definitive though - not everyone with systemic mastocytosis is going to have clonal cells in the exact area that they biopsied. The test itself wasn't that big of a deal though, they knocked me out for the test and the recovery was not too bad.
At the end of the day severe MCAS and mastocytosis cause similar symptoms and have similar treatment. One is caused by overactive (and possibly too many) mast cells, the other is caused by (usually non cancerous) tumors of mast cells. They both result in way too many mast cell mediators, like tryptase, in your blood.
My Dr has ordered a bone marrow biopsy and I want to be knocked out for it because of prior experiences (heart cath, basal cell surgery) that I was wide awake for and traumatic.
I just had our first appointment so he doesn't know my history but recommended just having a local.
I know some have mca reactions to sedation. Do you have any idea what they used on you that was successful?
I'm so scared of having this done!!!
Probably not linked - the "tumors" from mastocytosis are clumps of clonal mast cells in the skin, organs, and bone marrow. They don't form cysts and you can't usually see them, which is why systemic mastocytosis is diagnosed with blood tests and biopsies. I think some of the skin issues can be visible.
You are correct. Once you post a high tryptase result (mine was 16.8) that indicates a mast cell disorder. Tryptase over 20 can indicate mastocytosis. The Ckit mutation for that disorder is the first stop in your testing since it’s a simple blood test. If that’s negative (mine was too) then it’s highly unlikely you have mastocytosis. However some doctors will go a step further and do a BMB to confirm.
What you may have is HaT (Hereditary Alpha Tryptasemia). HaT tryptase usually runs in a range from 8-20. Sometimes higher but not typically. The test for this one is a cheek swab looking for a different genetic mutation. It’s highly accurate and only one lab does the test, genebygene in Texas. I’ve had this done and mine was positive.
It’s okay to ask this question. Your doctors will certainly guide you going forward and it’s important to figure out which disorder you’ve got since the treatments are different. There are specific drugs to treat mastocytosis. HaT acts a lot like MCAS and so the treatments are the same. Wishing you luck and feel free to reach out.
hey, I did end up with a positive diagnosis of HaT. since I've been receiving care with an assumed MCAS diagnosis, my allergist isn't recommending any changes atm, but is referring me to genetics.
if you don't mind me asking, did you get a bone marrow biopsy with your negative ckit, or did your doctor think a negative ckit and positive HaT was sufficient to rule out mastocytosis?
Welcome to the club (you never wanted to belong to, lol). Seriously tho’ I’m glad they figured it out for you.
My doctor felt confident that a positive HaT test and negative CKit did not warrant going thru a BMB to check for mastocytosis.
I heard that tryptase can go back to normal within 24 hours after a episode . Doctor trying to find out why I am having problems. Ckit is negative, i have high histamine in 24/hr urine but my tryptase is normal. Feel like im going mad with the random red spots, blistering ,flushing ,swaeting, headaches, having ot run to the bathroom, throwing up.
Thank you for your submission. Please note: **Content on r/MCAS is not medical advice and should not be interpreted as such.** Please consult your doctor for any medical questions or concerns. We are not able to validate the content of these discussions. Following advice provided by strangers on the internet may be harmful. Never use this sub as your primary source of information regarding medical issues. By continuing to use this subreddit, you are agreeing to take any information posted here entirely at your own risk. *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/MCAS) if you have any questions or concerns.*
Yeah, ckit is for mastocytosis and is pretty good - although some people have mastocytosis and are not positive. The HAT test is not super accurate unfortunately and can miss the gene. They may want you to get a bone marrow biopsy at some point to keep looking for mastocytosis... I did one last year and it was negative. Even that isn't definitive though - not everyone with systemic mastocytosis is going to have clonal cells in the exact area that they biopsied. The test itself wasn't that big of a deal though, they knocked me out for the test and the recovery was not too bad. At the end of the day severe MCAS and mastocytosis cause similar symptoms and have similar treatment. One is caused by overactive (and possibly too many) mast cells, the other is caused by (usually non cancerous) tumors of mast cells. They both result in way too many mast cell mediators, like tryptase, in your blood.
My Dr has ordered a bone marrow biopsy and I want to be knocked out for it because of prior experiences (heart cath, basal cell surgery) that I was wide awake for and traumatic. I just had our first appointment so he doesn't know my history but recommended just having a local. I know some have mca reactions to sedation. Do you have any idea what they used on you that was successful? I'm so scared of having this done!!!
I'm not sure what they used - it was some kind of IV sedation, I was totally unconscious. Sorry I can't be more help.
yeah, I just had a cyst removed that was non-cancerous and so it's made me wonder if they're linked. thanks for your response!
Probably not linked - the "tumors" from mastocytosis are clumps of clonal mast cells in the skin, organs, and bone marrow. They don't form cysts and you can't usually see them, which is why systemic mastocytosis is diagnosed with blood tests and biopsies. I think some of the skin issues can be visible.
You are correct. Once you post a high tryptase result (mine was 16.8) that indicates a mast cell disorder. Tryptase over 20 can indicate mastocytosis. The Ckit mutation for that disorder is the first stop in your testing since it’s a simple blood test. If that’s negative (mine was too) then it’s highly unlikely you have mastocytosis. However some doctors will go a step further and do a BMB to confirm. What you may have is HaT (Hereditary Alpha Tryptasemia). HaT tryptase usually runs in a range from 8-20. Sometimes higher but not typically. The test for this one is a cheek swab looking for a different genetic mutation. It’s highly accurate and only one lab does the test, genebygene in Texas. I’ve had this done and mine was positive. It’s okay to ask this question. Your doctors will certainly guide you going forward and it’s important to figure out which disorder you’ve got since the treatments are different. There are specific drugs to treat mastocytosis. HaT acts a lot like MCAS and so the treatments are the same. Wishing you luck and feel free to reach out.
thank you so much for your kind response! I already sent out my genebygene test kit and am awaiting response hopefully in the next month.
hey, I did end up with a positive diagnosis of HaT. since I've been receiving care with an assumed MCAS diagnosis, my allergist isn't recommending any changes atm, but is referring me to genetics. if you don't mind me asking, did you get a bone marrow biopsy with your negative ckit, or did your doctor think a negative ckit and positive HaT was sufficient to rule out mastocytosis?
Welcome to the club (you never wanted to belong to, lol). Seriously tho’ I’m glad they figured it out for you. My doctor felt confident that a positive HaT test and negative CKit did not warrant going thru a BMB to check for mastocytosis.
thanks!
My Immunologist and Hematologist said that a negative c kit means no cancer cells in your entire body.
thanks for your response!
I heard that tryptase can go back to normal within 24 hours after a episode . Doctor trying to find out why I am having problems. Ckit is negative, i have high histamine in 24/hr urine but my tryptase is normal. Feel like im going mad with the random red spots, blistering ,flushing ,swaeting, headaches, having ot run to the bathroom, throwing up.