Please is there anyone diagnosed with chronic granulomatous disease?

Posted by samuedion @samuedion2665, Sep 25, 2023

Is there anyone diagnosed with chronic granulomatous disease? Associated with severe pain,. inflammation, and fistula in ano...

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Profile picture for Colleen Young, Connect Director @colleenyoung

Welcome, @sherocko. You may also be interested in this related discussion:
- Chronic granulomatous disease (CGD): How to build the immune system?
https://connect.mayoclinic.org/discussion/granulomatous-disease/
It sounds like you had a long road to getting a diagnosis. What suggestions or treatment has your medical team offered for infection management? What steps do you take to prevent bacterial and fungal infections before they start?

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Hi Colleen, thank you for checking in. I have no information, no plan, no idea what I am dealing with at this point. I have a specialist appointment in March. Kind of left to my own thoughts for the time being. I appreciate the article and I will look at that.
Thank you again for reaching out.
Gayle

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Hi, I have recently been diagnosed with this disease (chronic granulomatous disease) and would like to find out more. I have no symptoms other than a rash which has broken out on the top of my legs and continued up my body and my underarms. Do you have this as well?
Nola

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Profile picture for nolablance @nolablance

Hi, I have recently been diagnosed with this disease (chronic granulomatous disease) and would like to find out more. I have no symptoms other than a rash which has broken out on the top of my legs and continued up my body and my underarms. Do you have this as well?
Nola

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@nolablance Hi Nola, According to the Mayo Clinic website (and other credible sources) Chronic Granulomatous disease is genetic condition in which certain infection-fighting white blood cells don't work properly. That can result in frequent infections, including rashes.

Here is the article from Mayo: (there are 3 pages)
https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817
What tests used to diagnose your condition? Are you currently taking any treatments for your rash such as antibiotics?

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Profile picture for nolablance @nolablance

Hi, I have recently been diagnosed with this disease (chronic granulomatous disease) and would like to find out more. I have no symptoms other than a rash which has broken out on the top of my legs and continued up my body and my underarms. Do you have this as well?
Nola

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@nolablance This is an interesting find! I do have Granuloma Anulare on my forearms and elbows periodically as well as Essential Thrombocythemia with JAK2mutation; I have had a complete thyroidectomy (colloid adenoma) and hysterectomy due to large fibroids present. I do believe this is all related! The only relief for my GA itchy rash is an occasional prednisone. It will flare up and come and go but remains just visible under my skin.
Good luck to you in getting some help and relief. I do believe it cycles and at the present time, mine is dormant while I fight ET.

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CGD has several genetic mutation basis, with the most common type carried on the X chromosome which makes males more commonly affected. When I was a fellow in pulmonary diseases at Tulane in the 70s, we had 2 or 3 patients with the condition. At the time they were the test cases for our biochemistry department to come up with the nitro blue tetrazolium test for the condition. Since then, flow cytometry is more commonly used. There's no genetic therapy that I know. Due to the lack of oxydative burst, neutrophils can't kill certain organisms, likely bacterial and fungal. These pesty bugs survive inside the neutrophils which form small tumors called granulomas. In order to kill these bugs we use intracellular antibiotics and antifungals, some times for months or years, to prevent tissue damage and primarily lung destruction. These include Bactrim, and imidazoles. I believe stem cell transplantation is effective in curing the disease.

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