While many Alphas are fortunate to have a doctor with experience in treating Alpha-1 patients, some others find themselves having to educate their own doctor on this condition. One great resource for those who find themselves in the latter group is AlphaNet’s Big Fat Reference Guide to Alpha-1 (BFRG) which was written and compiled by doctors, nurses, healthcare professionals, and fellow Alphas well-versed in all things Alpha-1. It is your physician’s responsibility to do their best to understand and monitor your condition, but your health as an Alpha should be a collaborative effort. Read on to find some tips straight from the BFRG on how to discuss your condition with your doctor and help keep your Alpha-1 health in check.

Arrive Prepared

When it comes to doctor’s appointments, knowledge is power. The more you know, the better you can communicate with your healthcare provider. This helps you build a solid relationship. Your healthcare provider will ask you for a lot of information during your visit. You can prepare yourself by writing down your questions and bringing your health history with you. Keep a notebook or folder with all of your notes and relevant documentation handy so you don’t forget anything important. Get in the habit of documenting when certain symptoms begin or end so you can build an accurate timeline of your condition and monitor the effects of your current treatment plan.

Understand the Process and Be Honest

When you visit your physician, they will generally use a standard problem-solving method for collecting information that will allow them to make an assessment and treatment recommendations. Many different methods and formats are used; however, all of them have key elements in common. In general, the problem-solving system your healthcare provider will use can be categorized into four parts: subjective data, objective data, assessment, and treatment planning.

While objective data includes measurements like blood pressure that can be taken in-office, the subjective category includes information that you or your family members will be reporting to the physician. This type of information is often referred to as a “medical history.” By tradition and experience, this is often organized into the following categories:

  • Chief complaint: What is the primary problem or the reason for the visit? Be as honest as possible and don’t hold back when describing your symptoms or pain levels.
  • History related to Alpha-1: 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 is 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
  • Past medical history (PMH): This information involves your overall medical history, including childhood illnesses, immunizations, surgeries, resolved medical problems, previous hospitalizations, etc. Your physician will also 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.
  • Family history of illness: 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.
  • Social history: This will include information about your occupational history, alcohol and tobacco consumption, marital status, living situation, lifestyle, etc. 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. This information will help your physician better understand your total medical status and the lifestyle issues that could be impacting your health. A key area of importance is your smoking history, including the age you started smoking, the number 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 quit. It is also important to note the type of tobacco you smoked (filtered or unfiltered cigarettes, cigars, pipe, etc). Also, mention any use of marijuana or e-cigarettes.
  • Review of Symptoms: A discussion of various systems of your body to look for other conditions that might be affected by your Alpha-1 or might contribute to any medical problems. 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, 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 shorter of breath at higher altitudes, such as when you are visiting the mountains or traveling by airplane.

The detail and type of information obtained can vary from visit to visit. An initial visit often goes into much greater detail than subsequent visits, when you are just being asked to fill in the details that may have changed. Specialists may concentrate only on questions in their area of expertise. During an acute problem, all information gathered may focus on solving that problem, rather than developing a general treatment plan for overall health maintenance.

Get Involved in The Development of Your Treatment Plan

Once the data is gathered and the assessment is made, you and your physician will develop a plan for dealing with any problems. Some plans are referred to as “short-term treatment plans.” These are intended to deal only with the specific problems identified during that specific visit with your healthcare provider. Any treatment plan, but particularly a long-term plan for Alpha-1, is not something that your healthcare provider can simply give to you. Instead, the treatment plan most likely to be successful will require the collaborative efforts of both you and your healthcare provider.

While there are elements of every treatment plan that may be common for Alphas, there is no “one-size-fits-all” Alpha-1 treatment plan. Alpha-1 antitrypsin deficiency is not a simple disorder. In some Alphas, disease never develops, and they live a normal and healthy life. In others, diseases of the lung, liver, and other body systems develop and vary significantly in how they affect the individual. Some Alphas develop severe debilitating diseases, while others develop only mild symptoms of those same diseases.

Regardless of where you are on the health spectrum, from healthy to severely ill, the importance of treatment planning in Alpha-1 remains unchanged.

If you’re a healthy Alpha, treatment plans may be as simple as avoiding risk factors, obtaining genetic counseling for family testing, and scheduling routine follow-up visits with your healthcare provider. Alphas with severe symptoms of disease may have complex and frequently changing treatment plans. In any case, treatment planning is a central tenant of all healthcare and provides the tools for you and your healthcare provider to manage this complex life-long disorder.

Getting good healthcare and maintaining your health is not a passive activity. You must actively participate in the system to make it work for you. Successfully managing your Alpha-1 involves a partnership between you and your healthcare providers. Participating in the development of your treatment plan and adhering to that treatment plan, are perhaps two of the most important ways in which Alphas can control the course of their health and well-being.

Health Management Plan for Lung Disease

Health Management Plan for Liver Disease

Utilize the Resources Available to You

If you and your doctor are just starting to learn about alpha-1 antitrypsin deficiency, remember that as an AlphaNet subscriber there are plenty of great resources available to you to help you better understand this condition. As mentioned above, the Big Fat Reference Guide to Alpha-1 was written and compiled by healthcare experts and has a great wealth of knowledge concerning nearly every aspect of alpha-1 antitrypsin deficiency. You can find information on Alpha-1 genetics, risk factors, treatment options, and much more. And, if you or your doctor have specific Alpha-1 related questions that you can’t find the answers to in the BFRG, you can always reach out to your AlphaNet Coordinator or our AlphaNet Medical Team who are always happy to help educate and guide you.