The first visit with your healthcare provider after a diagnosis of Alpha-1-related COPD is an important one. This visit is a first step toward stopping your lung disease from getting worse. Your provider will ask you a lot of questions. You’ll have a physical exam, and you may have tests, too. This way, your provider will have a baseline to compare to in the future. You may also talk about Alpha-1 therapies. Read on to learn more about what to expect from your first visit.

Adults with stable lung disease due to Alpha-1 should be seen at least annually by their “Alpha-1 Aware” healthcare provider. Often, an individual with Alpha-1-COPD is followed by a primary care physician for “day-to-day” problems, and a pulmonary consultant on a less frequent basis for their Alpha-1-related problems.

In general, the initial evaluation of an individual with Alpha-1-COPD is similar to that for any newly diagnosed patient with chronic obstructive pulmonary disease. The differences are that an added emphasis will be placed on:

  • Obtaining an accurate and complete medical and family history
  • Genetics and consideration of genetic counseling
  • Obtaining sufficient baseline data so an accurate assessment of disease progression can be made
  • Consideration of specific therapies for Alpha-1

The initial visit with an “Alpha-1 Aware” physician can be the starting point for slowing the progression of lung disease and making sure everything that can be done is done.

Getting to know you

In order to accurately assess and care for you following your diagnosis of Alpha-1-COPD, it is important for your healthcare provider to obtain a broad array of baseline information. By “baseline,” we mean information that can be compared with future evaluations to assess changes and to evaluate whether therapies and other interventions are having a beneficial effect. This information will likely include a medical history, physical examination, and diagnostic testing. Much of this information may have been collected before the final or confirmed diagnosis of Alpha-1 was made. Sometimes it may require more than one visit to obtain and evaluate all of this baseline information.

Your physician will combine this baseline subjective and objective information into an assessment of your medical status, make or confirm a diagnosis, and develop both short- and long-term treatment plans for managing your condition.

Before your initial visit with your healthcare provider, consider:

  • Gathering any relevant information about your health history: AlphaNet’s Big Fat Reference Guide (BFRG) offers patient health information worksheets that you may find helpful to complete before visiting your healthcare provider. When you have done this, you will have much of the information your physician will need readily available. Completing the worksheets also can serve to remind you of the questions you want to ask your healthcare provider that you might otherwise forget about when you are at the doctor’s office.
  • Bringing a healthcare advocate with you: You might find it helpful to invite a spouse, family member, or close friend to come with you to your doctor’s appointment. While some aspects of the visit may not be appropriate for participation by a visitor, for much of the visit, having an extra set of eyes and ears can be beneficial.
  • Recording your visit: Some physicians will permit you to record your visit using a tape recorder or your mobile phone so you can review it after leaving the physician’s office. If you are interested in doing this, it’s a good idea to check with your physician’s office before your appointment to make sure there won’t be any issues.

In this day of rapidly changing health insurance coverage, frequent changes in employment, and massive paperwork requirements, it is important to remember that your medical records belong to YOU. Always ask for copies of important test results or, if you prefer, keep copies of your entire medical record. This will help you understand your care, direct any questions you might have about your care, and allow any new healthcare provider to rapidly learn about your medical condition. Many individuals keep a journal of their medical visits, medications, and illnesses. The more information you and your healthcare provider have about your condition, the better your care will be. Although electronic medical records (EMR) might be accessible via a portal, not all systems work together and healthcare providers have been known to change EMR systems, leaving most historical records behind. If available, download your medical records to your computer on a regular basis.

Medical history

During the interview portion of the initial visit, the physician will want to gather specific historical information. A detailed discussion of your past medical history and any concurrent illnesses you may have is usually obtained or updated if your previous medical records are already available. Your healthcare provider will want to know all of the surgeries you have had in the past; for each, be prepared to describe when it was, how you tolerated the surgery, and whether the problem was corrected. A thorough accounting of all past medical problems can help your healthcare provider evaluate interactions with your Alpha-1. Similarly, it is important to list all medications and supplements you are currently taking, as well as those recently stopped, because they may interact with medications for Alpha-1.

Other topics of discussion will include:

  • Smoking history: including the age when you started smoking, quantity of cigarettes or other tobacco products you typically smoked per day (usually number of packs), whether or not you are still smoking, and, if not, the date you stopped. It is also important to note the type of tobacco you smoked (filtered or unfiltered cigarettes, cigars, pipe, other). Also mention any use of marijuana or e-cigarettes.
  • Review of bodily systems: Your healthcare provider will review each system of your body with you to be sure you haven’t forgotten any important information. Because heart problems can masquerade as lung problems, a careful cardiac history is usually taken. Your healthcare provider will want to know if you have ever experienced certain types of heart disease that can lead to fluid in the lungs or reduce your exercise capacity.
  • Family history: A detailed family history is a cost-effective tool for evaluating any potential risks that may exist for other family members, as well as helping you understand what the future may hold for current and future offspring. In addition to the family history of Alpha-1 and lung disease, it is important to assess the family history for liver, skin, rheumatologic, and inflammatory conditions as well.

Many physicians’ offices will ask you to complete a medical history form prior to seeing your healthcare provider. This form will probably resemble the sample worksheets we described above, and may ask you to describe your current medical status, any medications you might be taking, as well as any changes that might have taken place since your last visit to a healthcare provider. It is always important to be sure your healthcare provider is aware of any allergies you might have, especially to medications. For people diagnosed with Alpha-1-COPD, certain elements of your medical history are unique and/or may take on added importance.

Your usual signs and symptoms

Of great importance is an evaluation of your current and/or usual signs and symptoms of lung disease. For example, your healthcare provider will want to know how frequently you cough and if your cough is “productive,” that is, do you frequently cough-up sputum or phlegm. If you have a productive cough, it is also important to note the characteristics of your sputum, such as its texture and color (clear, yellow, green, brown, or bloody).

Be prepared to discuss:

  • Whether you can hear wheezing in your chest.
  • Frequent lung infections, and the symptoms that alert you to a lung infection.
  • If you have breathlessness or wheezing.
  • If you use medications such as an inhaler, and does this typically improve your breathing.
  • Do you have breathlessness all the time, or does it only occur with exertion?
  • If you experience breathlessness with exertion.
  • How far can you walk or climb the stairs before you have trouble?
  • How long does it take you to recover?
  • Do you use supplemental oxygen?
  • Do you have sleep problems — insomnia, frequent awakenings, snoring, or stopping of breathing for periods during sleep (sleep apnea)?
  • Whether or not you are more short of breath at higher altitudes, such as when you are visiting the mountains or traveling by airplane.

You may want to take this opportunity to discuss with your physician other concerns you may have, such as issues related to alcohol intake, sexual dysfunction, non-prescription or illicit drug usage, or other questions of a personal nature. Your healthcare provider may ask many other questions of you as well. You should understand that all of these questions are designed to promote a better understanding of your total medical status and the lifestyle issues that could have an impact on your health.

Alpha-1 Diagnosis and Genetics

Your healthcare provider will want to know the history of your Alpha-1 diagnosis: when the diagnosis was made, the type of testing done (Alpha-1 antitrypsin (AAT) blood level, pi-typing, and/or genotyping), and your exact Pi-type/genotype. For AAT blood levels, it is important to note the units in which the level was reported (mg/dL or micromoles) and the “normal range” for the particular laboratory that performed the test. In addition, let your healthcare provider know the Alpha-1 status of any relatives who have been tested.

Although many physicians may look for the “classic history of Alpha-1,” you may or may not exhibit any of these “classic” signs or symptoms:

  • Premature onset of COPD (emphysema, chronic bronchitis, or unremitting asthma), with moderate or severe impairment before age 50, or lung disease that is out of proportion to the smoking history
  • A predominance of emphysema at the bases of the lung visible on an X-ray
  • A family history of Alpha-1 or COPD onset before age 50
  • Bronchiectasis, especially in the absence of clear risk factors for the disease
  • Cirrhosis of the liver without apparent risk factors

Genetic counseling

Alpha-1 is a genetic condition, so your doctor may discuss what this means for you and any future children you may have. We know that if you have a severe alpha-1 deficiency, it is likely you have two deficient genes for Alpha-1. If that is the case, you will pass along one of these genes to your child. If you have one deficient gene for Alpha-1, there is a 50 percent chance your baby will inherit that gene. If the other parent also carries one or two Alpha-1 genes, your child has a higher risk of inheriting this disorder and having alpha-1 antitrypsin deficiency.

There is genetic counseling available through the Alpha-1 Foundation free of charge. The genetic counselor can explain the chances of passing on Alpha-1 to a child based on the parents’ Pi-types. The genetic counselor can also explain the implications for parents of a baby affected by Alpha-1 liver disease.

Obtaining Baseline Information

After the physical examination and obtaining the results of any tests, your doctor will have a more complete picture of your health and this information will serve as a baseline to compare future results to.

Physical Exam

The physical examination usually starts with noting vital signs (blood pressure, pulse rate, respiratory rate, and temperature). Many lung physicians consider performing a routine spirometry (simple breathing test) and an oximetry (measuring the oxygen level in the blood) to be part of the vital signs as well. Some physicians may do a complete physical exam, checking you from head-to-toe. Or they may elect to do a limited exam, concentrating on only the important aspects of your body, for example, the ones related to the problem you are currently experiencing. For an Alpha with lung disease, a limited exam might include: the skin; ears, nose, and throat; neck; lungs and heart; abdomen; and extremities.

Physical exam key points:

  • The lung exam: By observing the chest during breathing, a physician can make sure the chest moves as it is supposed to. Normally, breathing involves the unconscious use of the diaphragm and the intercostal muscles between each rib. Observing the chest during breathing can also reveal the use of accessory muscles of respiration. When an individual has chronic breathing difficulties, especially with flattening of the diaphragm and obstruction to the flow of air, the body starts to recruit additional muscles to help out, such as the muscles of the neck, and the use of these can be observed during an examination.
  • The heart exam: When physicians listen to the heart, they usually listen to four main areas: two areas higher on the front of the chest on either side of the top of your breastbone or sternum, an area just to the left of the mid portion of your sternum, and an area below the left nipple. These areas represent places where the sound of the various heart valves open and close, or other areas where the sounds of abnormal blood flow may be heard. If there are unusual sounds noted, or if the physician is listening for certain heart abnormalities, they may listen to other areas as well, or ask you to change position or hold your breath. Sounds made by abnormal blood flow through the valves of the heart are called murmurs. Not all murmurs mean the heart is abnormal. Because the heart and lungs depend on one another to oxygenate and circulate blood, some changes in heart sounds can actually indicate the presence of lung disease.
  • Examining the abdomen: Also important when evaluating Alphas is an examination of the abdomen to detect such things as liver enlargement or signs of liver disease. As with most areas of examination, the physician may visually observe the abdomen, listen to the abdomen, palpate or push and explore the abdomen with both hands, and percuss the abdomen, especially if fluid or organ enlargement is suspected. The size of the liver and spleen, in the right and left upper abdomen respectively, are of particular interest in assessing liver disease.
  • Examining the extremities: An examination of the extremities (the arms, hands, legs, and feet) can sometimes reveal signs of fluid build-up, or edema, which could signify the presence of lung, liver, or heart problems. In addition, lung problems leading to low oxygen can sometimes lead to blueness of the fingers, called cyanosis, and certain lung diseases can lead to abnormally shaped nails and fingertips, known as clubbing.

Testing

In order to obtain more information and better monitor your Alpha-1 health, your doctor may conduct or order the following tests:

  • Pulmonary function tests
    • Spirometry
    • Lung volumes (especially Total Lung Capacity [TLC] and Residual Volume [RV])
    • Pulse oximetry: A pulse oximeter is a device used to estimate the saturation of oxygen in the blood (SaO2). Pulse oximetry results are not as accurate as obtaining the arterial blood gas saturation and is best used as a guide for oxygen levels. Normal values range from 93-100%.
  • Arterial blood gases: Arterial blood gases (ABGs) give your physician even more information on your lung health. ABGs determine how well your lungs are getting oxygen into your blood and carbon dioxide out of your blood. A sample of blood is drawn from an artery, most often near the wrist. The most important measurements in the blood gas sample are acid base balance (pH), carbon dioxide level (PaCO2), oxygen level (PaO2), and oxygen saturation (SaO2).
  • Chest X-ray and CT evaluations
  • Liver function tests
  • Other laboratory/blood tests: The basic test used to measure the blood cell components is called the Complete Blood Count or the CBC. These tests are usually performed on anticoagulated whole blood.

Medications and therapies

As discussed above, your physician will want to know about all of the medications you are currently taking. You should make a list of all of your medications that includes why the medication was originally prescribed and when you started taking it. You will also want to discuss whether or not you feel that your medications are working, and if you feel you might be experiencing any side effects.

After completing the interview and gathering all the relevant historical information, your healthcare provider will begin to gather information via the physical examination and evaluating laboratory and other diagnostic tests. Recommended therapies are generally based on the worst of these test results.

If you are determined to be a candidate for alpha-1 antitrypsin augmentation therapy infusions, your doctor should let you know how to begin that process. Augmentation therapy infusions are intended to supplement or augment the amount of Alpha-1 antitrypsin (AAT) floating in the blood and bathing the tissues of the body in individuals with Alpha-1 Antitrypsin Deficiency- (Alpha-1-) related lung disease. Although some individuals report that they notice improvements in their health when on augmentation therapy, and there is some evidence for a decrease in the number of lung infections in individuals receiving augmentation therapy, the primary aim of this therapy is to reduce the rate of decline of lung function towards normal and, therefore, improve the long-term quality of life and even the lifespan of individuals with Alpha-1.

Depending on your symptoms other medications and therapies used to treat Alpha-1 COPD may include:

  • Bronchodilators, including beta-agonists or anticholinergics
  • Phosphodiesterase (PDE) inhibitors
  • Corticosteroid pills
  • Leukotriene antagonists

Please discuss questions with your healthcare provider.

For even more information about how to navigate doctor’s visits as an Alpha, check out “How to Discuss Alpha-1 with Your Doctor” under the Our Alpha-1 Community Stories category of AlphaNet’s Subscriber Portal.

Sources:

  • https://bfrg.alphanet.org/s/article/6-2-3-the-initial-visit-following-diagnosis
  • https://bfrg.alphanet.org/s/article/6-2-4-the-physical-examination-from-head-to-toe
  • https://bfrg.alphanet.org/s/article/6-2-5-diagnostic-tests
  • https://bfrg.alphanet.org/s/article/9-5-6-common-blood-tests
  • https://bfrg.alphanet.org/s/article/6-2-6-liver-function-tests
  • https://bfrg.alphanet.org/s/article/6-2-8-general-treatment-recommendations
  • https://bfrg.alphanet.org/s/article/14-2-2-What-is-the-primary-purpose-of-augmentation-therapy