Emphysema: Diagnosis

00:01 we were able to bolster your education and really be able to integrate things.

00:01 Let’s continue. So, signs and symptoms of emphysema. We have pulmonary function test.

00:06 Well we know its’ less than 80, we’re at COPD. Chest X-ray hyperinflation. Hyperlucency, what does that mean to you? Increased black. Normally on your chest X-ray you should find a little bit of vasculature, a little bit of opacity is good for you, too much is pathology.

00:26 Tell me about this hyperlucency both sides or unilateral? Good, both sides. Unilateral you think more on the lines of pneumothorax, maybe spontaneous. What else may happen? Well, if there is damage to your lung, eventually at some point because of that increased pulmonary resistance you’re going to have right-sided damage and what’s the first physiologic adaptation that the right ventricle is going to undergo? It’s called right ventricular hypertrophy.

00:58 Now, let’s go and try to diagnose our patient. First point, now if you didn’t hear or if you’re a little lost with what I was referring to with that oxygen dissociation and carbon dioxide dissociation curve then this won’t make much sense or maybe perhaps you would just breeze through it and you would have memorized it, don’t do that.

01:23 Hypoxemia with or without hypercapnia. There you go. So, is it possible that you might have a patient with emphysema in which he or she has hypoxemia but doesn’t have hypercapnia? Sure, why? Well you go back to that point about hyperventilation in pathology such as emphysema in which you will never compensate for the hypoxemia but you might be able to compensate for the increase in carbon dioxide and blow some off. So therefore, there might be normocapnia or perhaps hypocapnia, pretty big deal actually.

01:57 What else might you be thinking about in all cases, especially if your Caucasian patient? But, it doesn’t matter, just in general. When you have emphysema, you just want to make sure that you check for alpha-1 antitrypsin. AAT stands for alpha-1 antitrypsin evaluation.

02:14 Just to make sure. What’s the name of that normal gene, the one that you want to know? PI, for every "z" that you pick up, you have less or deficient amounts of alpha-1 antitrypsin.

02:25 You pick up two "z" I’m just being funny here, okay? At times, have to be careful because I say something if I rushed through it like for example you might want to think of it as being “pizzing out” your alpha-1 antitrypsin but by saying that it doesn’t mean that you’re going to find alpha-1 antitrypsin in the urine, is that clear? So, if you get it, you get it. If you don’t then please somehow just understand the concept of homozygous, you’re not making any, period. Okay, now what do you find in your hepatocyte though? You might find a protein globule. Protein globule. Where? In hepatocyte endoplasmic reticulum.

03:02 Continue. Alright, now, let’s quickly walk through the dynamics of alpha-1 antitrypsin, please. We know it’s panacinar emphysema and what is this? It’s an enzyme synthesized in the liver that what does it do? It inhibits our proteolytic enzymes that’s coming from your neutrophil, example elastase we call that protease. Next, it’s an inherited in autosomal recessive fashion. So therefore, homozygous means picking up two "z" and this is huge point.

03:30 As it is your patient with emphysema is young, 45 is young, trust me. I’m getting really close to it. But, let’s say that I was a smoker and had alpha-1 antitrypsin deficiency then this patient is going to have a hastened pathogenesis or a hastened type of journey and by that maybe your patient has emphysema at the age of 35. That’s unfortunate. Not only would the patient have such an issue but most likely has issues within the liver as well.

03:59 Diagnosis. Well, absence of alpha-1 globulin on protein electrophoresis can measure a, well, alpha-1 antitrypsin level, correct? So, on protein electrophoresis if you don’t even find the alpha-1 globulin please understand your patient does not have alpha-1 antitrypsin, is that clear? You’re doing a protein electrophoresis, you’re trying to identify the protein of your alpha-1 antitrypsin but it isn’t there.

04:26 Basal emphysema on chest X-ray as opposed to apical in typical COPD, okay? So, once again, when you talk about COPD and you think about emphysema and smokers’ interlobular, where is their damage? More likely apex, in the middle lobe. Perhaps when you start finding issues within the basal portion of your lung you should be suspecting much more so alpha-1 antitrypsin. Now, you need to keep this in mind current day practice you know you're doctor fine, you want to administer every medication that you want but you cannot because of, perhaps cost. Extremely expensive. So, please. You go through the diagnosis portion of alpha-1 antitrypsin deficiency. Why is this important? Extremely common in your Caucasian population, one of the major genetic mutations, and make sure that you confirm your diagnosis before you think about giving recombinant alpha-1 antitrypsin because it is major bucks.

05:28 Management, obviously please try to cut down the smoking, oxygen therapy, lung volume reduction it’s hyperinflation isn’t it? Straightforward.