Does anyone have Birt-Hogg-Dubé syndrome (BHD), genetic lung disease?

Hi @mike500, I moved your question about Birt-Hogg-Dubé syndrome to this existing discussion.

- Does anyone have Birt-Hogg-Dubé syndrome (BHD), genetic lung disease? https://connect.mayoclinic.org/discussion/bhd/

I did this so you can read previous posts and connect easily with @dc1950 @cathleenc and others who can share more about their experiences.

Mike, I look forward to learning more about you. What symptoms led to your being tested for BHD? What questions do you have?

Hi Mike. I have BHD as well as my daughter and grandson. We assume my mother as well since she had same symptoms. I wasn’t diagnosed until almost 10 years ago. It was hard finding a doctor who had knowledge. I’m happy to answer any questions you have. Take care, Donna

Thank you very much for your immediate response. I am 49 years old an i live in Athens ,Greece. I am looking for a doctor who is experienced in BHD .I only have symptoms in my lungs. I have multiple cysts and i have had multipleepisodes of pneumothorax in both lungs.
I was operated in my right lung 20 years ago and had a pleurodesis ,but now i have an issue with my left lung and there is a debate whether i should have a pleurodesis or not.
Furthermore, and that is the critical question, i would like to know what is the prognosis of the disease ,and what is the possibility of lung transplant.

I was tested for Birt Hogg Dube syndrome this past year as I have had a small area on a kidney that was ablated after mastectomy, chemo and radiation ended. Biopsy before ablation was inconclusive. Follow up for 3 years and the area bubbled up so concern has grown. I have other autoimmune issues with no firm diagnosis of anything specific so the kidney mass suggested Birt Hogg Dube could be present. It wasn't for me and the genetics testing didn't how anything either. But I do remember that there is a strong relationship between kidney cancer (a slow growing treatable type if I remember correctly) and Birt Hogg Due. HTH.

I'm tagging @dc1950 to make sure she sees your questions about what the future might look like and lung transplant options.

Hi Donna, I was diagnosed with BHD about 12 years ago. I’ve had several small pneumothorax's in my left lung. The most recent was this winter which has healed. I’ve had consistent problems with phlegm, and tight lungs. My pulmonologist has put me on multiple rounds of antibiotics and steroids. I’m wondering what kind of respiratory symptom's you’ve experienced

I thought you could fine BHD syndrome through a simple blood test. I know it is tied to the kind of cancer I had...Chromophobe Renal Cell Carcinoma. My doctor has never mentioned this to me. Like my tumor, I found out about this rare syndrome accidentally.

I have been thinking about this as the date for my next set of scans is right around the corner. I think I might have it.... I never thought it was a lung disease. I thought it was a kidney syndrome, but only connected with CHrcc. I must ask my doctor about this! They all tell me that the internet is a dangerous place for medical information...and that Dr. Google is a reall quack!

Cindy C
CHrcc