Alpha-1 Antitrypsin Deficiency and the Disease Burden


Ryner Lai, MBBS, a medical graduate of Queen Mary, London University, is a physician and writer with a passion to use medical research as a way of improving patients’ lives.

One of Dr. Lai’s recent articles for Rare Disease Advisor begins with a description of his colleagues’ attitude towards their patients while they were working in Borneo.  Dr. Lai describes his colleagues as keeping their patients at arm’s length. Expressing no emotion.

He uses the example of doctors taking blood and hurriedly seeking the most convenient vein while ignoring the discomfort of the patient.

The Other Perspective

And yet Dr. Lei recognizes that in many developing countries, healthcare personnel are overworked and staff at these hospitals are in short supply. The result is extreme fatigue and very little time for doctor-patient conversation.

That leaves a burden on both sides. People do not choose to be ill. Especially when the illness is undiagnosed and even life-threatening.

Understanding Disease Burden

In conjunction with his article on patient-doctor relationships, Dr. Lei wrote about the importance of understanding the alpha-1 antitrypsin deficiency (AATD) ‘disease burden’. Dr. Lei noted that lately the term has been used quite often. He feels that hearing the words ‘disease burden’ does not offer much comfort to the patient who has an undiagnosed but life-threatening illness. He does, however, agree that they are making headway.

Dr. Marc Miravitlles, a specialist in chronic obstructive pulmonary disease (COPD), and his colleagues at the University of Barcelona, Spain performed a literature review of disease burden and its association with AATD. COPD and emphysema are among the most prevalent pathologies.

About Alpha-1 Antitrypsin (AAT)

After being produced in the liver cells, AAT is sent to the lungs via the bloodstream where it protects the lungs. Having low AAT levels makes the lungs vulnerable or may cause damage to the liver.

Although each patient may experience varied clinical outcomes, as the disease begins to develop each clinical case worsens significantly. AATD patients may experience certain manifestations of the disease such as liver fibrosis or the most common type of liver cancer, hepatocellular carcinoma.

Dr. Miravitlles and colleagues received feedback from five studies reporting the effects on parents when caring for their children with AATD. The reports consisted of despair, anxiety, financial burden, and cost of traveling Parents were discouraged by healthcare professionals who were not familiar with the illness and therefore unable to be sympathetic to their child’s requirements.

Another burden is financial. The cost of treatment, including emergency room and outpatient treatment, is significant. The average annual cost for AATD treatment is $16,038 for inpatients and $2,663 for outpatients.

If AATD care receives sufficient funding, patients from low-income families could receive proper care.

Finding a cure for AATD would remove the disease burden. The team of clinicians has prioritized that goal.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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