Alpha-1 Antitrypsin Deficiency: Bridging Care
Transcript: Pulmonologist perspectives on lung health in AATD
Jorge E. Lascano, MD
All transcripts are created from interview footage and directly reflect the content of the interview at the time. The content is that of the speaker and is not adjusted by Medthority.
When talking about alpha-1 antitrypsin deficiency and coordinating case between pulmonary physicians and liver physicians, I think it's very important to start from the understanding that the disease affect both organs.
Now, patients don't always present with evidence of disease in both organs. Most patients in reality presents with or are found more than present or are diagnosed, at the time of diagnosis, most of the time, they have lung disease. Now, that doesn't imply that they don't have liver disease. It just maybe hasn't been identified or no one has looked for it. So, I think it's very important for the physicians taking care of patients with alpha-1 antitrypsin deficiency. If you're seeing the patient as a pulmonologist because the patient has pulmonary manifestations of the disease, it's important to think about the liver, order some tests of the liver. And if there's something abnormal, functionality test of the liver, imaging test of the liver, And if something abnormal that you find, of course, refer the patient or consult with a liver doctor.
So management of the patient can be seen as a, in a global way, meaning you are taking care of the patient from the pulmonary standpoint of view and the liver doctor is kind of assessing the patient from the liver point of view to make sure we're giving the best care for the patient. So, I think the most important things, when you identify a patient with alpha-1 antitrypsin deficiency, first, you need to decide if your patient has severe deficiency or mild deficiency.
The way we decide that is based on the genotype, and of course on the level of alpha-1 antitrypsin. There are certain genotypes like ZZ, ZS, or no genotypes that cover the group of patients with severe deficiency. And there are other patients with MC, for example, who have mild deficiency. Once you identify that part, then you have to identify the clinical picture of the patient, basically how affected the patient is or the patient's organs are secondary to the deficiency. And for that, we look into, when we look in the lungs, we look at pulmonary function test to assess, to evaluate the what is called the force expiratory volume in one second, FEV1, and see what percentage of functionality of lung function the patient has. And we also look at CT scans or images of the chest and the lungs to se e the evidence of emphysematous changes. That's kind of from the lung stand point of view.
If you're seeing the patient and you wanna assess the liver, doing liver enzymes, AST, ALT will be a good way to start to evaluate the liver. But probably a more important test will be to do some images of the liver too. An ultrasound is something that we used to do and doesn't give us much information when we think about an ulcer of the liver. But now, we can do something called FibroScan where we can see or evaluate the stiffness of the liver and can give you, give us a better idea of how much involvement that liver organ has secondary to alpha-1 antitrypsin deficiency. Once we identified, you know, the degree of disease and the severity of the case, then we have to decide how we're gonna approach this patient.
Currently, we don't have any specific treatment for the liver. So, avoiding things that can continue to injure the liver is probably the best recommendation. But for the lung, particularly the patient has obstructive lung disease based on the pulmonary function test or have an emphysematous changes, then we start thinking about specific treatments for the lung disease. The best option that we have these days is what we call augmentation, which is replacement of the deficient protein. We also treat these patients and we treat all the patients with COPD, with bronchodilators, long-acting bronchodilators, long-acting be agonists, long-acting anticholinergic.
Some of them might require inhaled steroids. So, we cover our basis in terms of the obstructive lung disease and we give them replacement therapy for the, to replace the deficient protein. For the liver part, there's really not a specific therapy that we have at this point. So when liver therapy is advanced, or sorry, when liver disease is advanced, then you know the option of referral for liver transplant starts becoming the only option. So if the patients are developing cirrhosis and you know, chronic liver disease, then they're really the only option becomes hepatology or a liver doctor to start working him up or referring the patient to a liver transplant center. For the lung disease, as I said before, we approach them based on the evidence of involvement of the lungs. So either by lung function, so when the lung function is not in the extreme. So if you have a normal lung function, you might not necessarily benefit from augmentation therapy. If you have a very low lung function, again, the benefit from augmentation therapy might be limited. So, it's those patients who will have moderate decreasing lung function who probably will benefit the most.
The same thing with those patients with emphysematous changes. We know these days that augmentation therapy decrease the declining in lung destruction, decrease the changes in the lung structure or the progression of the emphysematous changes. So patients with those features probably are the patients who can benefit the most of treatment. At the same time, you know, I will say simple things even though they're not simple, but basic things like smoking cessation, avoiding any type of inhalation injury, inhalation exposures are very important also for these patients. This is a very important point because patients, a lot of times patients show up, as I said before, with respiratory symptoms. And when you start talking to them about liver, then they don't understand that part. So, I think it's important to be able to explain to the patients, you know, kind of the pathophysiology of the disease, kind of how it works. The lung part, I think they understand a little bit better. Oh, I don't produce this protein, this protein protects my lungs.
So, I don't have the protein and that's why I get sick from the lungs. But the part that they might not understand is or we might need to do better explaining is how this protein is produced in the liver, how, because of the mutation, the protein is misfolded in the liver, accumulating in the liver. And by accumulating in the liver, produced the liver damage. So I think education for patients is very important, particularly in these days where newer therapies might start coming down the pipeline for the treatment of the disease. So I think educating the patients, making sure they understand that even though they might not have liver manifestations today, liver manifestations can come, can appear later, or vice versa, if they come in with liver manifestations and no lung manifestations for them to understand that lung manifestations might come down, might appear later in life. I think the biggest challenge is find people find the level of expertise to care for these patients. Not everybody is very familiar with the care for these patients.
So, I think it's important to, if you're seeing these patients, if you're identifying these patients, if you follow these patients to find partners who might not have the expertise, but at least have the interest and wants to get the expertise or wants to develop that, a level of expertise, understanding the disease and understanding how to treat and how to manage these patients. I think that's the biggest challenge. In multiple areas, patients have to travel significant distances, for example, to be able to see someone with a level of expertise caring for these patients. So sometimes, you just have to develop those connections between groups, between physicians to try to create a network of physicians who can care for these patients. But for sure, it is a challenge to find, for patients to find that level of expertise that sometimes is required for these patients. I think in terms of innovations, I think the fact that there's a lot of interest in developing newer therapies will get more physicians engaged with the idea of these patients not only with the idea of developing an expertise and treating these patients, but also with the idea of diagnosing these patients. One of the biggest challenges that we have in the care of patients with alpha-1 antitrypsin deficiency is that we just don't diagnose or we haven't diagnosed most of the patients. Some people talks about alpha-1 antitrypsin, about a rare, about a like a rare disease.
I don't necessarily believe it's a rare disease, I think is an underdiagnosed disease. So I think one of the challenges that or one of the innovations that can come, can progress in the next few years is as newer therapies are developed, more involvement from physicians to make the attempt to diagnose, to make the attempt of testing patients for this disease, finding the patients of course, and then developing a level of expertise and a level of confidence to treat these patients. I think the application of the guidelines is what has been challenged for years. Guidelines have been out there for multiple, multiple years. But the uptake of the guidelines by physicians who care for patients who might have alpha-1 antitrypsin deficiency is what is lacking. So when I think about the gaps or what can we do better, I think we need to inform physicians, educate physicians. You know, make them aware that, you know, this disease exists, that patient that they are, they might be seeing patients with it that they don't recognize because it's just not a clinical recognition. You see a patient with COPD and your patient was a smoker or is still a smoker right now, and you say, "Okay, you have COPD because you smoke." But the majority of patients with alpha-1 antitrypsin deficiency actually have smoke at some point in their life. So if you make that connection COPD and smoking and you don't think about testing, you're gonna miss the case.
So, I think it's very important continue to raise awareness that the disease is prevalent and that we need to continue to make all efforts, as much efforts as we can, to test patients who are appropriate to testing patients with COPD in terms of lung disease, patients with bronchiectasis of unclear theology in terms of lung disease, and patients with liver disease of unclear etiology. All these patients should be tested for alpha-1 antitrypsin deficiency. And if we make that approach beyond the guidelines, then we will be able to diagnose more patients and to recognize more patients who are dealing with this disease and treat them appropriately. I wanna encourage everybody who is looking at this video to think about the disease, not to think that this is a rare disease, to think about this disease as an underdiagnosed disease, to find ways to test your patients.
Ideally, you wanna get a level, and a genotype or a level of phenotype, that will be the ideal situation, but sometimes some of these tests might not be available. So if you just get a level that's kind of a good start point and if it's low, you can continue to explore more. But be curious. Investigate your patient and you'll find out that your COPD patients, your bronchiectasis patients, your chronic liver disease patients might actually have alpha-1 antitrypsin deficiency and you'll be doing a great service for them by making this diagnosis.
Developed by EPG Health. This content has been developed independently of the sponsor, Takeda, which has had no editorial input into the content. EPG Health received funding from the sponsor to help provide healthcare professional members with access to the highest quality medical and scientific information, education and associated relevant content. This content is intended for healthcare professionals only.
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