Are mast cell disease and POTS related to wheezing?

Hello doctor,

I have been diagnosed with mast cell disorder, as well as hyperadrenergic postural orthostatic tachycardia syndrome (POTS). My symptoms are relatively well controlled with medication. But I have not been very well past this month. I have gone to the emergency room (ER) three times in a row and spent four days at the hospital. My current medications are Clonidine, Modafinil, Advair, Atrovent, Xolair, Rupatadine, Famotidine, and Esomeprazole. I am audibly wheezing, despite the peak flow being normal. No one seems to know what is going on with me. I have some laboratory values and was wondering if you could take a look and tell me what is happening. All values here are venous unless otherwise specified: pH: 7.52. pCO2: 27.1 mm Hg. pO2: 57 mm Hg. HCO3: 21.7 mmol/L. Oxygen saturation: 93. I also had had a D-dimer of about 1000 ng/mL for the past month, but pulmonary embolism (PE) was ruled out with contrast computed tomography (CT). What confuses me is the elevated VO2 and the elevated partial pressure. I just had total CO2 done two weeks after the venous samples were taken, and it is still low at 20 mEq/L. I have noticed another symptom recently, as of yesterday. My left hand is very warm, and my right hand is freezing. That has never happened before. Not sure if there is a connection to everything else going on. Would you please give me your opinion on this? Thank you.

Hello doctor,

Thank you for your response. I did lung function tests twice in the past ten years and both times they were normal. I do have a home spirometer and the values still seem to be within normal limits. That being said, I have been using Advair and Atrovent and it has helped a bit, but I cannot tolerate Salbutamol as it aggravates my heart rate issues. And I still feel like I am suffocating as soon as I stand up. If I do any kind of vigorous activity, my SpO2 drops to eighty and then stabilizes. If I take a deep breath, I feel like there is something in there and it makes me cough. And I feel like I also need to breathe harder. My heart rate increases significantly upon standing because of my postural orthostatic tachycardia syndrome (POTS), so it is like I am exercising all the time. My main question is, obviously my venous blood gas results when at the hospital suggested respiratory alkalosis. They assessed and it was due to hyperventilation. However, I did the total CO2 test a few days ago, and the total CO2 was still quite low. Does that mean it is still respiratory alkalosis? And if so, how long can a person remain with that? I am still feeling very sick. My chest hurts from all that breathing, my heart rate still goes very fast, to very slow. I have constant headaches, I can barely eat due to nausea. I have lost ten pounds these past three weeks. And to add in, I have never smoked. Lastly, my fingernails are looking grayish blue. And I still have 99-100 SpO2. I am wondering if this is a hemoglobin problem? I am attaching the results of the bloodwork from the hospital from three weeks as well as two days ago. Thank you.

Hello doctor,

Thank you for your response. My hemoglobin was 15.10 g/dL, and RBC was 5.1 million/mm3, both slightly elevated. WBC: 13.6 x 10 x9/L , lymphocytes 0.8 x 10 x9/L, neutrophils 8.7x 10 x9/L, and eosinophils are 0. Immature granulocytes are 0.1 10E3/µL. Total IgE 4kU/L. D-dimer is over 1000 ng mL. I am using Advair twice a day and Atrovent four times a day right now. The inhalers help with the tightness feeling, and I feel like I can take a deeper breath than before. But I am still coughing a lot and wheezing. How is this even possible? I am very paranoid. Since I have you as an expert here, can I also ask you what the difference is between airway hyperresponsiveness and asthma? Can you have one without the other? How would that work in mast cell disease? Thank you.

Hello doctor,

Thank you for your response. It took many years for the diagnosis. However, after my postural orthostatic tachycardia syndrome (POTS) diagnosis, I finally accessed a specialist, who figured out what it must be since my minimal change disease (MCD) symptoms have worsened these past two years with chronic urticaria or pruritus, migraines, breathing issues, nausea, cramping, and digestive issues. My tryptase is only slightly elevated, but I had the genetic test done to confirm hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS) syndrome. I had Prednisone a few months ago because of this. Other than the standard pulmonary function tests, nothing has been done with testing. My home spirometer showed forced expiratory volume (FEV1) to be 2.6 percent and FVC 3.4 percent in comparison with the forced expiratory flow (FEF) values. If I remember correctly, the FEF was 75 percent. It has increased, though, with the addition of all these medications. As I said earlier, I may not know how accurate this is since it is a home spirometer. I am not aware of what the other values were from the hospital test. But I do know that my breathing issues have worsened this past year. It seems my family doctor might try to send me to see a pulmonologist, so I will make sure they consider these tests. Thank you for the test suggestions.

Hello doctor,

Thank you for all your responses. May you have a great day! Regards.

Thank you doctor,

I hope you can see the earlier consult we had for reference on the background of this query. Since last writing, I got a horrible cough which was relatively dry, but with some clear sputum that comes up. It is a very frustrating cough because I can feel something in my lungs when I cough like the phlegm is moving around. But most of the time, it will not come up. I ended up getting a semi-urgent lung function test done, and to my great surprise, it showed some things. I am happy about it because it validated what I felt and told my doctors. However, my cough is not improving. My doctor just switched me to Trelegy Elliptica, hoping it would make a difference. I have lost 15 lbs in the past six weeks from nausea, initially, and now near-constant coughing. Unfortunately, my consult with the respirologist may not be there for another one month or two. I would like you to review the results and report, and tell me what you think. I will also attach a previous computed tomography (CT) report to rule out pulmonary embolism (PE), which noted a few things but were dismissed as positional. I wonder if they might not be part of this 'cough' story. Also, I am unsure if it is relevant, and I do not have previous numbers to compare. But I have noticed my Spo2 (I have a pulse oximeter to monitor my postural orthostatic tachycardia syndrome (POTS)) dropping between 92 and 95 when I am sitting or lying in bed, watching television, and staying that way until I lie down for sleep or get up. I have been referred to get a high-resolution chest CT done, but this could also take months. Part of my question to you is what was on that regular CT? could it be a part of this story? And if a high-resolution CT would show something more? I am worried that the HRCT will not show anything for some reason, and then the respirologist will write me off and not want to help me. Is it possible that an HRCT does not show anything even if there is a problem? I had a lung function test done precisely two years back, and it said my forced expiratory volume (FEV1) was 96%, and lung volumes and diffusion capacity were 'normal' (although I do not have access to those values).

Thank you doctor,

I am not worried. But I wonder what is causing all this (diagnosis). I know that I am coughing and wheezing, and my values used to be a lot higher. Honestly, I am more worried about them telling me nothing is wrong (I was told for 20 years, nothing was wrong with me, only to find out, they finally did the right test that it was not actually all in my head and that what I had been saying I was feeling all along was correct). I know that I am coughing all day long, losing weight, and feeling like I am being smothered. Yes, the values are still within normal limits, but they are not normal for me. If they say everything is normal or not 'worrisome,' then they could very well let me keep coughing and suffering for another twenty years. And I will not survive till that. So I will re-ask my original question (sorry if it was unclear). What could it be? And will a high-resolution CT (HRCT) scan with actual inspiratory and expiratory views (which the original one did not do) show anything more? You are saying the lying-down drop in Spo2 might be cardiac in nature. Would that cause daytime coughing and wheezing? Or are they likely separate issues? I will summarize. I am coughing and wheezing a lot. I have lost tons of weight as a result. I am miserable as a result of these unrelenting symptoms. My oxygen saturation (Spo2) drops while lying down go down to the 70s with exercise and not instrument error as my hands were navy blue. I understand my values are within normal limits, but they have significantly decreased in two years, which must mean something since that decrease is strongly correlated to all these signs and symptoms. The question is, what could it be? Could it be, for example, early fibrosis? I know something is wrong. I had to argue with doctors for twenty years who told me nothing was wrong, and it turns out I was right. I now know when to argue: when I know, something is wrong, despite tests coming back 'within normal range.' It just means the correct tests have not been done yet.