Inherited risks

[Nana914]

My mother was diagnosed with COPD after many tests to find out the reasons for her chronic shortness of breath. No other reasons or explanations were given until she was diagnosed with emphysema a few years later. It was like a catch all term for any questionable lung disorder.
My worry is that I seem to be developing the same problems as my mother. I have been diagnosed with asthma and allergies and am taking medications for these . I am taking Alvesco and Uniphyl for my asthma and am in my second year of injections for my allergies [ pollen,trees,grass,ragweed and cats]. I have started a fitness program and a weight training program to help build up my cardio and aerobic strength. In spite of all this my Dr. keeps telling me that my asthma is not under control ,and refuses to change my medication.
What really worries me is that ,like my mother, I seem to have the worst time in the morning. By the time I get out of bed and to the bathroom to wash up and brush my teeth,I am already out of breath and unable to do much else except concentrate on my breathing. I am like this for a good hour,a little more, and then things seem to get better.
I have read about an inherited disorder that some people with COPD have in which the body lacks a certain protein in the blood and lungs which deals with the absorption of oxygen. My mother was never diagnosed with this and was never even tested for it. I just wonder if this is something I should insist upon when I see my Dr. next? Thank you.

[National Jewish Health]

You indicate that you “have been diagnosed with asthma”.  At a minimum the testing should have included pulmonary function tests (PFTs), done before and after inhaling a bronchodilator.  Such testing and a good history, along with an inhalation challenge test called a methacholine challenge, often enables a doctor to distinguish between chronic obstructive pulmonary disease (COPD) and asthma, but not always.

Alvesco® (ciclesonide) and Uniphyl® (theophylline) are good asthma medicines, but since your doctor insists that your asthma is not under control and your experience of continuing shortness of breath supports that conclusion, your doctor should consider 2 things:  1) the addition of a long-acting inhaled bronchodilator to your regimen, such as Serevent® Inhalation Aerosol (salmeterol xinafoate) or Foradil® Aerolizer™ (formoterol fumarate inhalation powder); and 2) check your blood oxygen level.

The other possibility is that your shortness of breath is not caused by COPD or asthma but by another lung problem, such as clots to the lung, or from heart disease.  You should ask your doctor how he came to the conclusion that COPD/asthma was the problem and if he/she has considered any other causes of shortness of breath.

You are quite right to suspect the inherited form of COPD/emphysema, called alpha-1 antitrypsin deficiency.  The concern would be even more relevant if both of you should have COPD and not have smoked cigarettes.  You should both be tested – it is a simple blood test and you should insist upon it.

Do not hesitate to be assertive with your requests for information and testing.

Good luck.

[Nana914]

Thank you for answering my questions,I certainly will be asking my doctor to schedule me for further tests.
My mother passed away two years ago at the age of 75 . I am 51 and have not smoked in 27 years. My brother is 54 and he too stopped smoking many years ago. He suffers from allergies and it comes out in the form of asthma,he is only taking antihistimines and Ventolin as needed. We all suffer from this shortness of breath [without any physical activity] and this is what started me thinking about inherited risks.
I will keep you posted once I have had additional testing. Once again thank you!